In contrast to many clinical terminologies, the HPO was purpose-built to
diff --git a/client/src/app/static/home/home.component.scss b/client/src/app/static/home/home.component.scss
index 8e01d72e..e4929fdc 100644
--- a/client/src/app/static/home/home.component.scss
+++ b/client/src/app/static/home/home.component.scss
@@ -148,6 +148,8 @@ a.mat-btn {
font-size: 40px;
margin: 10px 0;
float: left;
+ height: 40px;
+ width: 40px;
}
diff --git a/server/build.gradle b/server/build.gradle
index 1384e233..a0b3b4a6 100644
--- a/server/build.gradle
+++ b/server/build.gradle
@@ -16,7 +16,7 @@ buildscript {
}
}
-version "1.17.21"
+version "1.17.22"
group "hpo.api"
apply plugin: "idea"
diff --git a/server/src/main/resources/maxo.json b/server/src/main/resources/maxo.json
index 46ee377f..94fe73de 100644
--- a/server/src/main/resources/maxo.json
+++ b/server/src/main/resources/maxo.json
@@ -3,6 +3,9 @@
"id" : "http://purl.obolibrary.org/obo/maxo.json",
"meta" : {
"basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000700",
+ "val" : "http://purl.obolibrary.org/obo/MAXO_0000001"
+ }, {
"pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "Leigh Carmody"
}, {
@@ -19,9 +22,9 @@
"val" : "https://creativecommons.org/licenses/by/4.0/"
}, {
"pred" : "http://www.w3.org/2002/07/owl#versionInfo",
- "val" : "2023-03-09"
+ "val" : "2023-05-17"
} ],
- "version" : "http://purl.obolibrary.org/obo/maxo/releases/2023-03-09/maxo.json"
+ "version" : "http://purl.obolibrary.org/obo/maxo/releases/2023-05-17/maxo.json"
},
"nodes" : [ {
"id" : "http://purl.obolibrary.org/obo/BFO_0000001",
@@ -2638,6 +2641,49 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_139589",
+ "lbl" : "retinoid anion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoate",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoates",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoid anions",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoid carboxylate anion",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoid carboxylate anions",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoid carboxylic acid anion",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "retinoid carboxylic acid anions",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_139592",
"lbl" : "tertiary alpha-hydroxy ketone",
@@ -2913,6 +2959,33 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_145810",
+ "lbl" : "insulin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A peptide hormone which consists of two polypeptide chains, A- and B- chains which are linked together by disulfide bonds. The amino acid sequence of insulin varies across species and certain segments of the molecule are highly conserved. In most species, the A chain consists of 21 amino acids and the B chain consists of 30 amino acids. In mammals, insulin is synthesised in the pancreas within the beta cells whereas in certain species of fish, the insulin-producing tissue is uniquely located in separate structures called Brockmann bodies."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "xrefs" : [ {
+ "val" : "PMID:12137720"
+ }, {
+ "val" : "PMID:19251032"
+ }, {
+ "val" : "PMID:25848166"
+ }, {
+ "val" : "PMID:5941964"
+ }, {
+ "val" : "PMID:6069707"
+ }, {
+ "val" : "Wikipedia:Insulin"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_145947",
"lbl" : "antiatherosclerotic agent",
@@ -17500,6 +17573,38 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_23449",
+ "lbl" : "cyclic peptide",
+ "type" : "CLASS",
+ "meta" : {
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "Cyclopeptid",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "Zyklopeptid",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "cyclic peptides",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "peptide cyclique",
+ "xrefs" : [ "IUPAC" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "peptido ciclico",
+ "xrefs" : [ "IUPAC" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_23509",
"lbl" : "cysteine derivative",
@@ -18050,6 +18155,38 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_24533",
+ "lbl" : "heterodetic cyclic peptide",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A heterodetic cyclic peptide is a peptide consisting only of amino-acid residues, but in which the linkages forming the ring are not solely peptide bonds; one or more is an isopeptide, disulfide, ester, or other bond."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "synonymType" : "http://purl.obolibrary.org/obo/chebi#IUPAC_NAME",
+ "pred" : "hasExactSynonym",
+ "val" : "heterodetic cyclic peptide",
+ "xrefs" : [ "IUPAC" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "heterodetic cyclic peptides",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "peptide cyclique heterodetique",
+ "xrefs" : [ "IUPAC" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "peptido ciclico heterodetico",
+ "xrefs" : [ "IUPAC" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_24621",
"lbl" : "hormone",
@@ -20045,6 +20182,29 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_25905",
+ "lbl" : "peptide hormone",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any peptide with hormonal activity in animals, whether endocrine, neuroendocrine, or paracrine."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "peptide hormones",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "polypeptide hormone",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_26020",
"lbl" : "phosphate",
@@ -20763,6 +20923,28 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_26523",
+ "lbl" : "reactive oxygen species",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "ROS",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "xrefs" : [ {
+ "val" : "Wikipedia:Reactive_oxygen_species"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_26537",
"lbl" : "retinoid",
@@ -35121,7 +35303,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amnio group of serine."
+ "val" : "An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of serine."
},
"subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
"synonyms" : [ {
@@ -46204,6 +46386,37 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_50176",
+ "lbl" : "keratolytic drug",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "desquamating agent",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "keratolytic agent",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "keratolytic drugs",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "skin-peeling agent",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_50177",
"lbl" : "dermatologic drug",
@@ -46314,6 +46527,52 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_50264",
+ "lbl" : "thiazide",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Heterocyclic compound with sulfur and nitrogen in the ring."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "Thiazides",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "tiazidas",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_50265",
+ "lbl" : "benzothiadiazine",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Heterocyclic compound of a ring with sulfur and two nitrogen atoms fused to a benzene ring. Members inhibit sodium-potassium-chloride symporters and are used as diuretics."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "Benzothiadiazines",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "benzothiadiazines",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_50266",
"lbl" : "prodrug",
@@ -50486,6 +50745,25 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_60311",
+ "lbl" : "thyroid hormone",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any hormone produced by the thyroid gland"
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "thyroid hormones",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_60345",
"lbl" : "organic phosphoramidate anion",
@@ -51909,6 +52187,84 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_64133",
+ "lbl" : "EC 2.5.1.58 (protein farnesyltransferase) inhibitor",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An EC 2.5.1.* (non-methyl-alkyl or aryl transferase) inhibitor that interferes with the action of protein farnesyltransferase (EC 2.5.1.58), one of the three enzymes in the prenyltransferase group."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.58 (protein farnesyltransferase) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.58 inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.58 inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "FTase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "FTase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyl transferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyl transferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyl-diphosphate:protein-cysteine farnesyltransferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyl-diphosphate:protein-cysteine farnesyltransferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyltransferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "farnesyltransferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "protein farnesyltransferase (EC 2.5.1.58) inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "protein farnesyltransferase (EC 2.5.1.58) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "protein farnesyltransferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "protein farnesyltransferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "xrefs" : [ {
+ "val" : "Wikipedia:Farnesyltransferase"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_64558",
"lbl" : "methionine zwitterion",
@@ -54492,6 +54848,65 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_76663",
+ "lbl" : "EC 2.5.1.* (non-methyl-alkyl or aryl transferase) inhibitor",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A transferase inhibitor that inhibits the transfer of an alkyl (other than methyl) or aryl group (EC 2.5.1.*)."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.* (non-methyl-alkyl or aryl transferase) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.* inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.1.* inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "alkyl/aryl (non-methyl) transferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "alkyl/aryl (non-methyl) transferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl alkyl/aryl transferase (EC 2.5.1.*) inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl alkyl/aryl transferase (EC 2.5.1.*) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl alkyl/aryl transferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl alkyl/aryl transferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl-alkyl or aryl transferase inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl-alkyl or aryl transferase inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_76665",
"lbl" : "EC 2.6.* (nitrogenous group transferase) inhibitor",
@@ -55355,6 +55770,41 @@
"val" : "chebi_ontology"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CHEBI_76834",
+ "lbl" : "EC 2.5.* (non-methyl-alkyl or aryl transferase) inhibitor",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An EC 2.5.* (transferase) inhibitor that inhibits the action of any transferase that transfers an alkyl (other than methyl) or aryl group (EC 2.5.*)."
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/chebi#3_STAR" ],
+ "synonyms" : [ {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.* (non-methyl-alkyl or aryl transferase) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.* inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "EC 2.5.* inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl-alkyl or aryl transferase (EC 2.5.*) inhibitor",
+ "xrefs" : [ "ChEBI" ]
+ }, {
+ "pred" : "hasRelatedSynonym",
+ "val" : "non-methyl-alkyl or aryl transferase (EC 2.5.*) inhibitors",
+ "xrefs" : [ "ChEBI" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "chebi_ontology"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CHEBI_76835",
"lbl" : "EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor",
@@ -58063,6 +58513,10 @@
"lbl" : "germ line stem cell",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "A stem cell that is the precursor of gametes.",
+ "xrefs" : [ "doi:10.1016/j.stem.2012.05.016" ]
+ },
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "germline stem cell"
@@ -58223,6 +58677,10 @@
"lbl" : "female germ line stem cell",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "A stem cell that is the precursor of female gametes.",
+ "xrefs" : [ "doi:10.1016/j.stem.2012.05.016" ]
+ },
"xrefs" : [ {
"val" : "FBbt:00004873"
} ]
@@ -58304,10 +58762,6 @@
"val" : "BTO:0000930"
}, {
"val" : "FMA:70563"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000337"
} ]
}
}, {
@@ -58380,7 +58834,7 @@
"xrefs" : [ "GOC:add", "GOC:dsd", "GOC:tfm", "PMID:19022770", "http://en.wikipedia.org/wiki/Hematopoietic_stem_cell" ]
},
"comments" : [ "Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "HSC"
@@ -58421,6 +58875,7 @@
"val" : "A progenitor cell committed to the erythroid lineage.",
"xrefs" : [ "GOC:add", "ISBN:0721601464" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "BFU-E"
@@ -58642,9 +59097,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000044"
} ]
}
}, {
@@ -58772,13 +59224,6 @@
"val" : "BTO:0001663"
}, {
"val" : "FMA:70576"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000053"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000139"
} ]
}
}, {
@@ -59050,12 +59495,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000804"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000812"
} ]
}
}, {
@@ -59106,7 +59545,7 @@
"xrefs" : [ "GOC:add", "GOC:dsd", "GOC:tfm", "ISBN:068340007X", "MESH:D008407", "PMCID:PMC1312421", "PMCID:PMC2855166", "PMID:15153310", "PMID:16455980", "PMID:19671378", "PMID:212366338", "PMID:9354811" ]
},
"comments" : [ "Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "histaminocyte"
@@ -59234,6 +59673,27 @@
"val" : "FMA:80121"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_0000108",
+ "lbl" : "cholinergic neuron",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A neuron that uses acetylcholine as a vesicular neurotransmitter.",
+ "xrefs" : [ "GOC:tfm" ]
+ },
+ "xrefs" : [ {
+ "val" : "BTO:0004902"
+ }, {
+ "val" : "FBbt:00007173"
+ }, {
+ "val" : "FMA:84796"
+ }, {
+ "val" : "MESH:D059329"
+ }, {
+ "val" : "WBbt:0006840"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CL_0000114",
"lbl" : "surface ectodermal cell",
@@ -59388,9 +59848,6 @@
"val" : "FMA:70546"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002452"
- }, {
"pred" : "http://www.w3.org/2000/01/rdf-schema#seeAlso",
"val" : "https://github.com/obophenotype/cell-ontology/issues/474"
} ]
@@ -59422,9 +59879,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000450"
} ]
}
}, {
@@ -59458,6 +59912,7 @@
"xrefs" : [ "GOC:add", "ISBN:0781735149" ]
},
"comments" : [ "Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "APC"
@@ -59522,9 +59977,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000572"
} ]
}
}, {
@@ -59742,9 +60194,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000381"
} ]
}
}, {
@@ -60063,9 +60512,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000191"
} ]
}
}, {
@@ -60373,7 +60819,7 @@
"val" : "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.",
"xrefs" : [ "GOC:tfm", "MESH:D004912" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "RBC"
@@ -60403,7 +60849,7 @@
"xrefs" : [ "GOC:add", "GOC:dsd", "GOC:tfm", "MESH:D001792", "PMID:11110672", "PMID:16987572", "PMID:17204662", "PMID:17479180", "PMID:20414831", "http://en.wikipedia.org/wiki/Platelet" ]
},
"comments" : [ "Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "anucleate thrombocyte"
@@ -60453,7 +60899,7 @@
"xrefs" : [ "GOC:add", "GOC:tfm", "GO_REF:0000031", "PMID:16213494", "PMID:1919437" ]
},
"comments" : [ "Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "histiocyte"
@@ -60483,7 +60929,7 @@
"val" : "A lymphocyte of B lineage that is capable of B cell mediated immunity.",
"xrefs" : [ "GOC:add", "GOC:tfm", "GO_REF:0000031", "ISBN:0781735149" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "B lymphocyte"
@@ -60592,10 +61038,6 @@
}, {
"pred" : "hasExactSynonym",
"val" : "somatotrophin secreting cell"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000471"
} ]
}
}, {
@@ -60650,10 +61092,6 @@
"val" : "FBbt:00005038"
}, {
"val" : "FMA:74793"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000474"
} ]
}
}, {
@@ -60688,9 +61126,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002185"
} ]
}
}, {
@@ -60807,10 +61242,6 @@
} ],
"xrefs" : [ {
"val" : "FMA:69262"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000422"
} ]
}
}, {
@@ -60972,10 +61403,6 @@
"val" : "FMA:62411"
}, {
"val" : "MESH:D000078404"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000396"
} ]
}
}, {
@@ -61314,10 +61741,6 @@
"pred" : "hasExactSynonym",
"val" : "corticotropin secreting cell",
"xrefs" : [ "GO:0051458" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000640"
} ]
}
}, {
@@ -61485,10 +61908,6 @@
} ],
"xrefs" : [ {
"val" : "FMA:84797"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000714"
} ]
}
}, {
@@ -61690,6 +62109,7 @@
"val" : "An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.",
"xrefs" : [ "ISBN:0721601464", "MESH:A11.118.290.350.200", "PMID:1638021" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "rubriblast",
@@ -61883,11 +62303,11 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.",
- "xrefs" : [ "ISBN:0721601464", "MESH:D008533", "http://en.wikipedia.org/wiki/Megakaryocyte" ]
+ "val" : "A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release.",
+ "xrefs" : [ "ISBN:0721601464", "MESH:D008533", "PMID:31043076", "http://en.wikipedia.org/wiki/Megakaryocyte" ]
},
"comments" : [ "Megakaryocytes are reportedly CD181-positive and CD182-positive." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "megacaryocyte"
@@ -61962,6 +62382,7 @@
"val" : "An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.",
"xrefs" : [ "GOC:add", "GOC:tfm", "PMID:15946868", "PMID:2037622" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"xrefs" : [ {
"val" : "BTO:0001173"
}, {
@@ -62137,9 +62558,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000431"
} ]
}
}, {
@@ -62152,7 +62570,7 @@
"xrefs" : [ "GO_REF:0000031", "MESH:D009000" ]
},
"comments" : [ "Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"xrefs" : [ {
"val" : "BTO:0000876"
}, {
@@ -62735,7 +63153,8 @@
"val" : "A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates.",
"xrefs" : [ "GOC:add", "GOC:tfm", "PMID:16360205" ]
},
- "comments" : [ "Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals." ]
+ "comments" : [ "Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/CL_0000763",
@@ -62784,9 +63203,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002156"
} ]
}
}, {
@@ -62798,6 +63214,7 @@
"val" : "A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.",
"xrefs" : [ "GOC:add", "ISBN:0721601464", "PMID:18174176" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "normoblast"
@@ -62832,7 +63249,7 @@
"xrefs" : [ "GOC:add", "GOC:amm", "GOC:dsd", "GOC:tfm", "ISBN:0721601464", "MESH:D001491", "PMCID:PMC2626675", "PMID:11927641", "PMID:19741522", "PMID:21236338", "PMID:9933081" ]
},
"comments" : [ "Matures in the bone marrow and account for <1% of leukocytes in the peripheral blood, spleen, and bone marrow. Basophils are described as being CD11a-positive, CD11b-positive, CD13-positive, CD15-positive, CD18-positive, CD21-positive, CD25-positive, CD29-positive, CD35-positive, CD40-positive, CD40L-positive, CD44-positive, CD45R-negative, CD46-positive, CD49a-positive, CD49b-positive, CD49d-positive, CD55-positive, CD59-positive, CD62L-positive, CD63-positive, CD69-positive, CD90-negative, CD116-positive, CD117-negative, CD124-positive, CD125-positive, CD131-positive, CD161-positive, CD184-positive, CD191-positive, CD192-positive, CD197-positive, CD200R3-positive, CD218-positive, CD282-positive, CD284-positive, CD289-positive, CD290-positive, CD294-positive, natural killer cell receptor 2B4-positive, smad1-positive, CD3-negative, CD4-negative, CD7-negative, CD8-negative, CD14-negative, CD15-negative, CD16-negative, CD19-negative, CD20-negative, CD34-negative, CD36-negative, CD45R-negative, CD56-negative, CD57-negative, CD235a-negative, and GR1-negative. Transcription factors- GATA1-positive, PU.1-positive." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "polymorphonuclear leucocyte"
@@ -62868,7 +63285,7 @@
"xrefs" : [ "GOC:add", "GOC:amm", "GOC:dsd", "GOC:tfm", "ISBN:0721601464", "PMCID:PMC2626675", "PMID:10914487", "PMID:1662676" ]
},
"comments" : [ "Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "polymorphonuclear leucocyte"
@@ -62911,7 +63328,7 @@
"val" : "Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.",
"xrefs" : [ "GOC:add", "GOC:amm", "GOC:tfm", "ISBN:0721601464" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "PMN"
@@ -63021,7 +63438,7 @@
"xrefs" : [ "GOC:add", "GOC:dsd", "GO_REF:0000031", "ISBN:0721601464", "ISBN:0781735149", "PMID:19447676", "PMID:20081059", "PMID:20839338", "PMID:20951740", "http://en.wikipedia.org/wiki/Plasma_cell" ]
},
"comments" : [ "Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "plasma B cell"
@@ -63111,7 +63528,7 @@
"xrefs" : [ "GOC:add", "GOC:dsd", "GOC:rhs", "GOC:tfm", "GO_REF:0000031", "ISBN:0781735149", "PMID:20081059", "PMID:20839338" ]
},
"comments" : [ "Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "immature B lymphocyte"
@@ -63545,7 +63962,7 @@
"xrefs" : [ "GOC:add", "GOC:tfm", "PMID:19022770" ]
},
"comments" : [ "Markers differ between mouse and human." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "MPP"
@@ -63616,6 +64033,7 @@
"val" : "A leukocyte with a single non-segmented nucleus in the mature form.",
"xrefs" : [ "GOC:add" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "mononuclear leukocyte"
@@ -63704,7 +64122,8 @@
"val" : "An immature myeloid leukocyte of heterogeneous phenotype found particularly in cancer and sepsis patients that is capable of suppressing activity of T cells in ex vivo assays. This cell type is CD45-positive, CD11b-positive.",
"xrefs" : [ "GOC:add", "GOC:ana", "GO_REF:0000031", "PMID:16168663", "PMID:17016554", "PMID:17016559" ]
},
- "comments" : [ "Markers: Mouse: CD11b+GR1+CD31+; Human: CD34+ CD33+CD15-CD13+. (According to some reports in humans these cells are iNOS+ARG1+IL13+IFNg+); location: In cancerous tissue; in the blood and lymphoid organs in sepsis." ]
+ "comments" : [ "Markers: Mouse: CD11b+GR1+CD31+; Human: CD34+ CD33+CD15-CD13+. (According to some reports in humans these cells are iNOS+ARG1+IL13+IFNg+); location: In cancerous tissue; in the blood and lymphoid organs in sepsis." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/CL_0000893",
@@ -63988,7 +64407,7 @@
"xrefs" : [ "GOC:amm", "GO_REF:0000031", "PMID:17850486" ]
},
"comments" : [ "Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "interdigitating cell"
@@ -64267,7 +64686,7 @@
"val" : "A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses.",
"xrefs" : [ "GOC:add", "GOC:dsd", "PMID:23292121", "PMID:23348417" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim", "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
@@ -64755,6 +65174,7 @@
"val" : "A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells.",
"xrefs" : [ "GOC:tfm", "PMID:19022770" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/terms/contributor",
"val" : "https://orcid.org/0000-0003-1980-3228"
@@ -64773,6 +65193,7 @@
"xrefs" : [ "GOC:tfm", "PMID:19022770", "https://orcid.org/0000-0001-5208-3432" ]
},
"comments" : [ "This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060)." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/terms/contributor",
"val" : "https://orcid.org/0000-0003-1980-3228"
@@ -65301,6 +65722,7 @@
"val" : "A leukocyte that lacks granules.",
"xrefs" : [ "GOC:tfm" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "agranular leukocyte"
@@ -65489,9 +65911,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-24T02:05:28Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000421"
} ]
}
}, {
@@ -65550,9 +65969,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-24T09:27:52Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002587"
} ]
}
}, {
@@ -65647,9 +66063,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-24T10:45:54Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000294"
} ]
}
}, {
@@ -65802,9 +66215,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-25T03:22:08Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000399"
} ]
}
}, {
@@ -65825,9 +66235,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-25T03:38:51Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000404"
} ]
}
}, {
@@ -65848,9 +66255,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-25T03:57:08Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000400"
} ]
}
}, {
@@ -65871,9 +66275,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-26T03:12:49Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000439"
} ]
}
}, {
@@ -66058,9 +66459,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-02T02:09:14Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000407"
} ]
}
}, {
@@ -66175,12 +66573,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-07T01:49:29Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000295"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000408"
} ]
}
}, {
@@ -66206,9 +66598,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-07T01:55:51Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000462"
} ]
}
}, {
@@ -66229,9 +66618,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-07T01:59:12Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000463"
} ]
}
}, {
@@ -66391,9 +66777,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-08T09:28:20Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000402"
} ]
}
}, {
@@ -66420,9 +66803,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-08T09:28:22Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000292"
} ]
}
}, {
@@ -66443,9 +66823,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-08T09:41:46Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000293"
} ]
}
}, {
@@ -66502,9 +66879,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-08T01:46:51Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000297"
} ]
}
}, {
@@ -66559,9 +66933,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-08T02:29:38Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000429"
} ]
}
}, {
@@ -66582,9 +66953,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-14T10:40:12Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000446"
} ]
}
}, {
@@ -66609,9 +66977,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-14T10:57:26Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000403"
} ]
}
}, {
@@ -66813,9 +67178,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-13T02:34:22Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000459"
} ]
}
}, {
@@ -67008,9 +67370,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-15T03:01:54Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000406"
} ]
}
}, {
@@ -67279,9 +67638,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-21T04:33:05Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000475"
} ]
}
}, {
@@ -67539,9 +67895,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-24T01:13:01Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000369"
} ]
}
}, {
@@ -67580,6 +67933,7 @@
"val" : "A T cell that has not completed T cell selection.",
"xrefs" : [ "GOC:tfm" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "immature T-cell"
@@ -68251,9 +68605,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-28T03:48:11Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:1000393"
} ]
}
}, {
@@ -68574,9 +68925,10 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function.",
- "xrefs" : [ "GOC:tfm" ]
+ "val" : "A glial cell that myelinates or ensheathes axons in the peripheral nervous system.",
+ "xrefs" : [ "GOC:tfm", "PMID:16807057" ]
},
+ "comments" : [ "A myelinating Schwann cell wraps around a single axon. Myelination occurs in larger diameter axons, while a process called ensheathment occurs on smaller diameter axons in which a single cell wraps around multiple small, unmyelinated axons separating them with a thin layer of cytoplasm. The structure formed is called a Remak bundle." ],
"subsets" : [ "http://purl.obolibrary.org/obo/uberon/core#human_reference_atlas" ],
"xrefs" : [ {
"val" : "BTO:0001220"
@@ -69391,6 +69743,20 @@
"val" : "2012-01-12T05:21:09Z"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_0005024",
+ "lbl" : "somatomotor neuron",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A motor neuron that innervates a skeletal muscle. These motor neurons are all excitatory and cholinergic.",
+ "xrefs" : [ "ZFIN:CVS" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "somatic motor neuron"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CL_0005026",
"lbl" : "hepatoblast",
@@ -69553,7 +69919,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A muscle cell that is part of some visceral muscle",
+ "val" : "A muscle cell that is part of some visceral muscle.",
"xrefs" : [ "GOC:dos" ]
},
"xrefs" : [ {
@@ -70692,9 +71058,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/terms/contributor",
"val" : "https://orcid.org/0000-0001-7258-9596"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002609"
}, {
"pred" : "http://www.w3.org/2000/01/rdf-schema#seeAlso",
"val" : "https://github.com/obophenotype/cell-ontology/issues/1359"
@@ -70928,23 +71291,6 @@
"val" : "colonic epithelial cell"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/CL_0011111",
- "lbl" : "gonadotropin releasing neuron",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction.",
- "xrefs" : [ "GOC:NV", "PMID:21828096" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "GnRH neuron"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "GnRH-secreting neuron"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/CL_0011115",
"lbl" : "precursor cell",
@@ -72265,9 +72611,6 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/RO_0002175",
"val" : "http://purl.obolibrary.org/obo/NCBITaxon_9606"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0002542"
} ]
}
}, {
@@ -74381,9 +74724,6 @@
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-25T02:28:17Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "CL:0000111"
} ]
}
}, {
@@ -75334,6 +75674,7 @@
"val" : "A lymphocyte located in blood.",
"xrefs" : [ "https://orcid.org/0000-0001-9990-8331" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/cl#blood_and_immune_upper_slim" ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/terms/contributor",
"val" : "https://orcid.org/0000-0002-1773-2692"
@@ -75483,6 +75824,30 @@
"val" : "2023-02-09T11:25:14Z"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4030044",
+ "lbl" : "has_not_completed",
+ "type" : "PROPERTY"
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4030045",
+ "lbl" : "lacks_part",
+ "type" : "PROPERTY",
+ "meta" : {
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000424",
+ "val" : "http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4030046",
+ "lbl" : "lacks_plasma_membrane_part",
+ "type" : "PROPERTY",
+ "meta" : {
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000424",
+ "val" : "http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/CL_4033000",
"lbl" : "endothelial cell of venule of lymph node",
@@ -75556,6 +75921,102 @@
"val" : "2023-02-02T11:17:04Z"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4033017",
+ "lbl" : "bronchiolar smooth muscle cell",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A smooth muscle cell that is part of a bronchiole.",
+ "xrefs" : [ "ISBN:9781260462982", "PMID:15347627" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-6677-8489"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-9185-3994"
+ }, {
+ "pred" : "http://purl.org/dc/terms/date",
+ "val" : "2023-03-16T09:38:17Z"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4033018",
+ "lbl" : "lung megakaryocyte",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A megakaryocyte that is resident in the lung connective tissue.",
+ "xrefs" : [ "PMID:33351116" ]
+ },
+ "synonyms" : [ {
+ "synonymType" : "http://purl.obolibrary.org/obo/uberon/core#PLURAL",
+ "pred" : "hasRelatedSynonym",
+ "val" : "lung MKs",
+ "xrefs" : [ "PMID:33351116" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-6677-8489"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-9185-3994"
+ }, {
+ "pred" : "http://purl.org/dc/terms/date",
+ "val" : "2023-03-16T11:31:23Z"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4033020",
+ "lbl" : "mucus secreting cell of trachea gland",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A mucus secreting cell that is part of a submucosal gland of the trachea.",
+ "xrefs" : [ "PMID:18931053", "PMID:29656943" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "tracheal submucosal gland mucous cell",
+ "xrefs" : [ "PMID:18931053" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-6677-8489"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-9185-3994"
+ }, {
+ "pred" : "http://purl.org/dc/terms/date",
+ "val" : "2023-03-16T13:03:13Z"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/CL_4033022",
+ "lbl" : "mucus secreting cell of bronchus submucosal gland",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A mucus secreting cell of a submucosal gland of the bronchus.",
+ "xrefs" : [ "PMID:19965983" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "bronchial gland mucous cell",
+ "xrefs" : [ "PMID:5487122" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-6677-8489"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-9185-3994"
+ }, {
+ "pred" : "http://purl.org/dc/terms/date",
+ "val" : "2023-03-16T15:12:52Z"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/FOODON_00001002",
"lbl" : "food product",
@@ -82761,6 +83222,20 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0001505",
+ "lbl" : "regulation of neurotransmitter levels",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates levels of neurotransmitter.",
+ "xrefs" : [ "GOC:jl" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0001508",
"lbl" : "action potential",
@@ -82797,28 +83272,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0001525",
- "lbl" : "angiogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.",
- "xrefs" : [ "ISBN:0878932453" ]
- },
- "synonyms" : [ {
- "synonymType" : "http://purl.obolibrary.org/obo/go#systematic_synonym",
- "pred" : "hasExactSynonym",
- "val" : "blood vessel formation from pre-existing blood vessels"
- } ],
- "xrefs" : [ {
- "val" : "Wikipedia:Angiogenesis"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0001539",
"lbl" : "cilium or flagellum-dependent cell motility",
@@ -82842,39 +83295,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0001568",
- "lbl" : "blood vessel development",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.",
- "xrefs" : [ "GOC:hjd", "UBERON:0001981" ]
- },
- "basicPropertyValues" : [ {
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- "val" : "biological_process"
- } ]
- }
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0001569",
- "lbl" : "branching involved in blood vessel morphogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.",
- "xrefs" : [ "GOC:dph" ]
- },
- "synonyms" : [ {
- "pred" : "hasBroadSynonym",
- "val" : "patterning of blood vessels",
- "xrefs" : [ "GOC:dph" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0001578",
"lbl" : "microtubule bundle formation",
@@ -83418,17 +83838,29 @@
} ]
}
}, {
- "id" : "http://purl.obolibrary.org/obo/GO_0001944",
- "lbl" : "vasculature development",
+ "id" : "http://purl.obolibrary.org/obo/GO_0001956",
+ "lbl" : "positive regulation of neurotransmitter secretion",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism.",
- "xrefs" : [ "GOC:dph", "UBERON:0002409" ]
+ "val" : "Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter.",
+ "xrefs" : [ "GOC:hjd" ]
},
"synonyms" : [ {
- "pred" : "hasRelatedSynonym",
- "val" : "vascular system development"
+ "pred" : "hasExactSynonym",
+ "val" : "up regulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "up-regulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "upregulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "activation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "stimulation of neurotransmitter secretion"
} ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
@@ -90681,6 +91113,25 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0006836",
+ "lbl" : "neurotransmitter transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_pir" ],
+ "synonyms" : [ {
+ "pred" : "hasNarrowSynonym",
+ "val" : "sodium:neurotransmitter transport"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0006837",
"lbl" : "serotonin transport",
@@ -90822,6 +91273,9 @@
"basicPropertyValues" : [ {
"pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
"val" : "https://github.com/geneontology/go-ontology/issues/24907"
+ }, {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
+ "val" : "https://github.com/geneontology/go-ontology/issues/25268"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "GO:0016193"
@@ -91933,6 +92387,50 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0007269",
+ "lbl" : "neurotransmitter secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission.",
+ "xrefs" : [ "GOC:dph" ]
+ },
+ "comments" : [ "A neurotransmitter is any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, noradrenaline, adrenaline, dopamine, glycine, gamma-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins and serotonin." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "neurotransmitter release"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "neurotransmitter secretory pathway"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
+ "val" : "GO:0010554"
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+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0007271",
+ "lbl" : "synaptic transmission, cholinergic",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.",
+ "xrefs" : [ "GOC:dos", "Wikipedia:Cholinergic" ]
+ },
+ "synonyms" : [ {
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+ "val" : "cholinergic synaptic transmission"
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+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
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+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0007274",
"lbl" : "neuromuscular synaptic transmission",
@@ -93178,6 +93676,10 @@
},
"xrefs" : [ {
"val" : "Reactome:R-HSA-2142859"
+ }, {
+ "val" : "Reactome:R-HSA-561041"
+ }, {
+ "val" : "Reactome:R-HSA-9794830"
} ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
@@ -94817,6 +95319,7 @@
"val" : "Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.",
"xrefs" : [ "GOC:dph", "GOC:tb" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "regulation of receptor activity"
@@ -95411,6 +95914,7 @@
"val" : "Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.",
"xrefs" : [ "GOC:dph", "GOC:tb" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
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@@ -95425,6 +95929,7 @@
"val" : "Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.",
"xrefs" : [ "GOC:dph", "GOC:tb" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
@@ -95444,34 +95949,6 @@
"val" : "biological_process"
} ]
}
- }, {
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- "lbl" : "regulation of cell death",
- "type" : "CLASS",
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- "definition" : {
- "val" : "Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.",
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- "lbl" : "positive regulation of cell death",
- "type" : "CLASS",
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- "definition" : {
- "val" : "Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.",
- "xrefs" : [ "GOC:dph", "GOC:tb" ]
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- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0010948",
"lbl" : "negative regulation of cell cycle process",
@@ -95737,6 +96214,91 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0014055",
+ "lbl" : "acetylcholine secretion, neurotransmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS).",
+ "xrefs" : [ "GOC:ef" ]
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+ "lbl" : "regulation of acetylcholine secretion, neurotransmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine.",
+ "xrefs" : [ "GOC:ef" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
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+ } ]
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+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0014057",
+ "lbl" : "positive regulation of acetylcholine secretion, neurotransmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine.",
+ "xrefs" : [ "GOC:ef" ]
+ },
+ "synonyms" : [ {
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+ "val" : "up regulation of acetylcholine secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "up-regulation of acetylcholine secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "upregulation of acetylcholine secretion"
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+ "pred" : "hasNarrowSynonym",
+ "val" : "activation of acetylcholine secretion"
+ }, {
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+ "val" : "stimulation of acetylcholine secretion"
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+ "val" : "biological_process"
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+ "id" : "http://purl.obolibrary.org/obo/GO_0014058",
+ "lbl" : "negative regulation of acetylcholine secretion, neurotransmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine.",
+ "xrefs" : [ "GOC:ef" ]
+ },
+ "synonyms" : [ {
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+ "val" : "down regulation of acetylcholine secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "down-regulation of acetylcholine secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "downregulation of acetylcholine secretion"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "inhibition of acetylcholine secretion"
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+ "val" : "biological_process"
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+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0014059",
"lbl" : "regulation of dopamine secretion",
@@ -96053,6 +96615,30 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0015697",
+ "lbl" : "quaternary ammonium group transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The directed movement into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore of quaternary ammonium compounds, any compound that can be regarded as derived from ammonium hydroxide or an ammonium salt by replacement of all four hydrogen atoms of the NH4+ ion by organic groups.",
+ "xrefs" : [ "GOC:ai", "ISBN:0198506732" ]
+ },
+ "synonyms" : [ {
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+ "val" : "quaternary amine transport"
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+ "val" : "quaternary ammonium compound transport"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
+ "val" : "GO:0015845"
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+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0015701",
"lbl" : "bicarbonate transport",
@@ -96227,6 +96813,20 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0015870",
+ "lbl" : "acetylcholine transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions.",
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}, {
"id" : "http://purl.obolibrary.org/obo/GO_0015872",
"lbl" : "dopamine transport",
@@ -96844,33 +97444,6 @@
"val" : "molecular_function"
} ]
}
- }, {
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- "lbl" : "negative regulation of angiogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
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- "xrefs" : [ "GOC:go_curators" ]
- },
- "synonyms" : [ {
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- "val" : "down regulation of angiogenesis"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "down-regulation of angiogenesis"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "downregulation of angiogenesis"
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "inhibition of angiogenesis"
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}, {
"id" : "http://purl.obolibrary.org/obo/GO_0016620",
"lbl" : "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor",
@@ -96962,10 +97535,6 @@
"xrefs" : [ "ISBN:0198547684" ]
},
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- "synonyms" : [ {
- "pred" : "hasNarrowSynonym",
- "val" : "other lyase activity"
- } ],
"xrefs" : [ {
"val" : "EC:4.-.-.-"
}, {
@@ -98107,6 +98676,7 @@
"val" : "Any process that modulates the frequency, rate or extent of transmembrane transporter activity.",
"xrefs" : [ "GOC:dph", "GOC:mtg_cardio", "GOC:mtg_transport" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
@@ -100956,6 +101526,77 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0032222",
+ "lbl" : "regulation of synaptic transmission, cholinergic",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.",
+ "xrefs" : [ "GOC:mah" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0032223",
+ "lbl" : "negative regulation of synaptic transmission, cholinergic",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.",
+ "xrefs" : [ "GOC:mah" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "down regulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "down-regulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "downregulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "inhibition of synaptic transmission, cholinergic"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0032224",
+ "lbl" : "positive regulation of synaptic transmission, cholinergic",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.",
+ "xrefs" : [ "GOC:mah" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "up regulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "up-regulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "upregulation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "activation of synaptic transmission, cholinergic"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "stimulation of synaptic transmission, cholinergic"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0032274",
"lbl" : "gonadotropin secretion",
@@ -101330,6 +101971,7 @@
"val" : "Any process that modulates the activity of a transporter.",
"xrefs" : [ "GOC:mah" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
@@ -101344,6 +101986,7 @@
"val" : "Any process that stops or reduces the activity of a transporter.",
"xrefs" : [ "GOC:mah" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of transporter activity"
@@ -101371,6 +102014,7 @@
"val" : "Any process that activates or increases the activity of a transporter.",
"xrefs" : [ "GOC:mah" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "up regulation of transporter activity"
@@ -102129,6 +102773,27 @@
"val" : "cellular_component"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0032993",
+ "lbl" : "protein-DNA complex",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A macromolecular complex containing both protein and DNA molecules.",
+ "xrefs" : [ "GOC:mah" ]
+ },
+ "comments" : [ "Note that this term is intended to classify complexes that have DNA as one of the members of the complex, that is, the complex does not exist if DNA is not present. Protein complexes that interact with DNA e.g. transcription factor complexes should not be classified here." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_pir" ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "DNA-protein complex",
+ "xrefs" : [ "GOC:mah" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "cellular_component"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0032997",
"lbl" : "Fc receptor complex",
@@ -102648,6 +103313,7 @@
"val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.",
"xrefs" : [ "GOC:mah" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of kinase activity"
@@ -102678,6 +103344,7 @@
"val" : "Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.",
"xrefs" : [ "GOC:mah" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "up regulation of kinase activity"
@@ -105454,7 +106121,7 @@
"val" : "Any process that activates or increases the activity of an enzyme.",
"xrefs" : [ "GOC:ebc", "GOC:jl", "GOC:tb", "GOC:vw" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_chembl" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_chembl", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "positive regulation of enzyme activity",
@@ -105510,6 +106177,7 @@
"val" : "Any process that stops or reduces the activity of an enzyme.",
"xrefs" : [ "GOC:ebc", "GOC:jl", "GOC:tb", "GOC:vw" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of enzyme activity"
@@ -106045,6 +106713,7 @@
"val" : "Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.",
"xrefs" : [ "GOC:bf" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
@@ -106312,6 +106981,7 @@
"val" : "Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.",
"xrefs" : [ "GO:jl" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
"val" : "jl"
@@ -106332,6 +107002,7 @@
"val" : "Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.",
"xrefs" : [ "GO:jl" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
"val" : "jl"
@@ -106920,25 +107591,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0045182",
- "lbl" : "translation regulator activity",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.",
- "xrefs" : [ "GOC:ai" ]
- },
- "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_candida", "http://purl.obolibrary.org/obo/go#goslim_drosophila", "http://purl.obolibrary.org/obo/go#goslim_generic", "http://purl.obolibrary.org/obo/go#goslim_pir", "http://purl.obolibrary.org/obo/go#goslim_plant", "http://purl.obolibrary.org/obo/go#prokaryote_subset" ],
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "translation factor activity"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "molecular_function"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0045184",
"lbl" : "establishment of protein localization",
@@ -108466,50 +109118,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0045765",
- "lbl" : "regulation of angiogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that modulates the frequency, rate or extent of angiogenesis.",
- "xrefs" : [ "GOC:go_curators" ]
- },
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0045766",
- "lbl" : "positive regulation of angiogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that activates or increases angiogenesis.",
- "xrefs" : [ "GOC:go_curators" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "up regulation of angiogenesis"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up-regulation of angiogenesis"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "upregulation of angiogenesis"
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "activation of angiogenesis"
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "stimulation of angiogenesis"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0045778",
"lbl" : "positive regulation of ossification",
@@ -110830,6 +111438,50 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0046928",
+ "lbl" : "regulation of neurotransmitter secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0046929",
+ "lbl" : "negative regulation of neurotransmitter secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "down regulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "down-regulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "downregulation of neurotransmitter secretion"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "conotoxin activity"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "inhibition of neurotransmitter secretion"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0046942",
"lbl" : "carboxylic acid transport",
@@ -111202,20 +111854,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0048514",
- "lbl" : "blood vessel morphogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.",
- "xrefs" : [ "GOC:jid" ]
- },
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0048515",
"lbl" : "spermatid differentiation",
@@ -112289,7 +112927,7 @@
"val" : "Any process that modulates the activity of an enzyme.",
"xrefs" : [ "GOC:ai", "GOC:ebc", "GOC:vw" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_chembl" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_chembl", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "regulation of enzyme activity"
@@ -114972,7 +115610,7 @@
"xrefs" : [ "GOC:ai" ]
},
"comments" : [ "This term is useful for grouping, but is too general for manual annotation. Please use a child term instead." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "transferase regulator"
@@ -114991,6 +115629,7 @@
"val" : "Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "lyase regulator"
@@ -115009,6 +115648,7 @@
"val" : "Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "oxidoreductase regulator"
@@ -115028,7 +115668,7 @@
"xrefs" : [ "GOC:ai" ]
},
"comments" : [ "This term is useful for grouping, but is too general for manual annotation. Please use a child term instead." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "transferase activator"
@@ -115063,7 +115703,7 @@
"xrefs" : [ "GOC:ai" ]
},
"comments" : [ "This term is useful for grouping, but is too general for manual annotation. Please use a child term instead." ],
- "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_manually_annotate", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of transferase activity"
@@ -115094,6 +115734,7 @@
"val" : "Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "lyase activator"
@@ -115127,6 +115768,7 @@
"val" : "Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of lyase activity"
@@ -115157,6 +115799,7 @@
"val" : "Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "oxidoreductase activator"
@@ -115196,6 +115839,7 @@
"val" : "Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.",
"xrefs" : [ "GOC:ai" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "down regulation of oxidoreductase activity"
@@ -115638,6 +116282,77 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0051588",
+ "lbl" : "regulation of neurotransmitter transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0051589",
+ "lbl" : "negative regulation of neurotransmitter transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "down regulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "down-regulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "downregulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "inhibition of neurotransmitter transport"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0051590",
+ "lbl" : "positive regulation of neurotransmitter transport",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.",
+ "xrefs" : [ "GOC:ai" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "up regulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "up-regulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "upregulation of neurotransmitter transport"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "activation of neurotransmitter transport"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "stimulation of neurotransmitter transport"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0051604",
"lbl" : "protein maturation",
@@ -116809,20 +117524,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0060055",
- "lbl" : "angiogenesis involved in wound healing",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury.",
- "xrefs" : [ "GOC:dph", "PMID:15039218" ]
- },
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0060073",
"lbl" : "micturition",
@@ -117415,26 +118116,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0060548",
- "lbl" : "negative regulation of cell death",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.",
- "xrefs" : [ "GOC:BHF", "GOC:dph", "GOC:tb" ]
- },
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "dph"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2009-04-13T01:56:10Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0060560",
"lbl" : "developmental growth involved in morphogenesis",
@@ -117905,6 +118586,26 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0061526",
+ "lbl" : "acetylcholine secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The regulated release of acetylcholine by a cell.",
+ "xrefs" : [ "GOC:dph" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "dph"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2013-06-21T15:40:39Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0061844",
"lbl" : "antimicrobial humoral immune response mediated by antimicrobial peptide",
@@ -118153,7 +118854,7 @@
"val" : "Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.",
"xrefs" : [ "GOC:isa_complete" ]
},
- "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_annotate", "http://purl.obolibrary.org/obo/go#goslim_pir", "http://purl.obolibrary.org/obo/go#goslim_plant" ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_annotate", "http://purl.obolibrary.org/obo/go#goslim_pir", "http://purl.obolibrary.org/obo/go#goslim_plant", "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "regulation of a molecular function"
@@ -119099,6 +119800,26 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0071695",
+ "lbl" : "anatomical structure maturation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state.",
+ "xrefs" : [ "GOC:mah" ]
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "mah"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2010-03-02T11:43:38Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0071702",
"lbl" : "organic substance transport",
@@ -119468,34 +120189,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_0072359",
- "lbl" : "circulatory system development",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.",
- "xrefs" : [ "GOC:mah", "UBERON:0001009" ]
- },
- "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_drosophila" ],
- "synonyms" : [ {
- "pred" : "hasNarrowSynonym",
- "val" : "cardiovascular system development"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "mah"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2010-11-16T11:27:39Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "GO:0072358"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0072507",
"lbl" : "obsolete divalent inorganic cation homeostasis",
@@ -120728,6 +121421,24 @@
"val" : "cellular_component"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0098657",
+ "lbl" : "import into cell",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasBroadSynonym",
+ "val" : "uptake"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0098754",
"lbl" : "detoxification",
@@ -120761,6 +121472,25 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0098793",
+ "lbl" : "presynapse",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The part of a synapse that is part of the presynaptic cell.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "presynaptic terminal"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "cellular_component"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0098796",
"lbl" : "membrane protein complex",
@@ -120981,6 +121711,48 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099143",
+ "lbl" : "presynaptic actin cytoskeleton",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The actin cytoskeleton that is part of a presynapse.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "dos"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2017-06-09T18:36:19Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "cellular_component"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099171",
+ "lbl" : "presynaptic modulation of chemical synaptic transmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process, acting in the presynapse that results in modulation of chemical synaptic transmission.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "dos"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2017-09-11T17:09:31Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0099177",
"lbl" : "regulation of trans-synaptic signaling",
@@ -120995,6 +121767,27 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099182",
+ "lbl" : "presynaptic intermediate filament cytoskeleton",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The intermediate filament cytoskeleton that is part of a presynapse.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "dos"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2017-12-01T18:10:21Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "cellular_component"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0099503",
"lbl" : "secretory vesicle",
@@ -121045,6 +121838,21 @@
"val" : "cellular_component"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099531",
+ "lbl" : "presynaptic process involved in chemical synaptic transmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#gocheck_do_not_annotate", "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0099536",
"lbl" : "synaptic signaling",
@@ -121056,9 +121864,6 @@
},
"subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_drosophila", "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
"basicPropertyValues" : [ {
- "pred" : "http://purl.obolibrary.org/obo/RO_0002161",
- "val" : "http://purl.obolibrary.org/obo/NCBITaxon_4895"
- }, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
} ]
@@ -121125,6 +121930,37 @@
"val" : "cellular_component"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099569",
+ "lbl" : "presynaptic cytoskeleton",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The portion of the cytoskeleton contained within the presynapse.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "cellular_component"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0099577",
+ "lbl" : "regulation of translation at presynapse, modulating synaptic transmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that modulates synaptic transmission by regulating translation occurring at the presynapse.",
+ "xrefs" : [ "GOC:dos" ]
+ },
+ "comments" : [ "Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0099643",
"lbl" : "signal release from synapse",
@@ -121328,6 +122164,7 @@
"val" : "A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex.",
"xrefs" : [ "GOC:kmv" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_pir" ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
"val" : "kmv"
@@ -121747,6 +122584,81 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0140236",
+ "lbl" : "translation at presynapse",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Translation that occurs at the presynapse.",
+ "xrefs" : [ "PMID:27321671" ]
+ },
+ "comments" : [ "Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
+ "val" : "https://github.com/geneontology/synapse/issues/216"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "pg"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2018-07-13T13:00:33Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0140237",
+ "lbl" : "translation at presynapse, modulating chemical synaptic transmission",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Translation that occurs at the presynapse, and that modulates chemical synaptic transmission.",
+ "xrefs" : [ "PMID:27321671" ]
+ },
+ "comments" : [ "Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
+ "val" : "https://github.com/geneontology/synapse/issues/216"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "pg"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2018-07-13T13:07:23Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0140238",
+ "lbl" : "presynaptic endocytosis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.",
+ "xrefs" : [ "PMID:24719103" ]
+ },
+ "comments" : [ "Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
+ "val" : "https://github.com/geneontology/synapse/issues/230"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "pg"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2018-07-15T07:33:55Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0140241",
"lbl" : "translation at synapse",
@@ -121797,6 +122709,31 @@
"val" : "biological_process"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/GO_0140244",
+ "lbl" : "regulation of translation at presynapse",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any process that regulates translation occurring at the presynapse.",
+ "xrefs" : [ "PMID:20427644" ]
+ },
+ "comments" : [ "Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua." ],
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#goslim_synapse" ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000233",
+ "val" : "https://github.com/geneontology/synapse/issues/210"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "pg"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
+ "val" : "2018-07-15T09:38:33Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "biological_process"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_0140352",
"lbl" : "export from cell",
@@ -122803,17 +123740,17 @@
} ]
}
}, {
- "id" : "http://purl.obolibrary.org/obo/GO_1901342",
- "lbl" : "regulation of vasculature development",
+ "id" : "http://purl.obolibrary.org/obo/GO_1901360",
+ "lbl" : "organic cyclic compound metabolic process",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any process that modulates the frequency, rate or extent of vasculature development.",
+ "val" : "The chemical reactions and pathways involving organic cyclic compound.",
"xrefs" : [ "GOC:TermGenie" ]
},
"synonyms" : [ {
- "pred" : "hasRelatedSynonym",
- "val" : "regulation of vascular system development",
+ "pred" : "hasExactSynonym",
+ "val" : "organic cyclic compound metabolism",
"xrefs" : [ "GOC:TermGenie" ]
} ],
"basicPropertyValues" : [ {
@@ -122821,81 +123758,36 @@
"val" : "bf"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2012-09-06T09:16:15Z"
+ "val" : "2012-09-14T09:03:51Z"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
} ]
}
}, {
- "id" : "http://purl.obolibrary.org/obo/GO_1901343",
- "lbl" : "negative regulation of vasculature development",
+ "id" : "http://purl.obolibrary.org/obo/GO_1901362",
+ "lbl" : "organic cyclic compound biosynthetic process",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development.",
+ "val" : "The chemical reactions and pathways resulting in the formation of organic cyclic compound.",
"xrefs" : [ "GOC:TermGenie" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "down regulation of vasculature development",
+ "val" : "organic cyclic compound anabolism",
"xrefs" : [ "GOC:TermGenie" ]
}, {
"pred" : "hasExactSynonym",
- "val" : "down-regulation of vasculature development",
+ "val" : "organic cyclic compound biosynthesis",
"xrefs" : [ "GOC:TermGenie" ]
}, {
"pred" : "hasExactSynonym",
- "val" : "downregulation of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
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- "val" : "inhibition of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "down regulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "down-regulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "downregulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "inhibition of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "negative regulation of vascular system development",
+ "val" : "organic cyclic compound formation",
"xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
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}, {
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- "val" : "biological_process"
- } ]
- }
- }, {
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- "lbl" : "organic cyclic compound metabolic process",
- "type" : "CLASS",
- "meta" : {
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- "val" : "The chemical reactions and pathways involving organic cyclic compound.",
- "xrefs" : [ "GOC:TermGenie" ]
- },
- "synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "organic cyclic compound metabolism",
+ "val" : "organic cyclic compound synthesis",
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@@ -122903,44 +123795,27 @@
"val" : "bf"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2012-09-14T09:03:51Z"
+ "val" : "2012-09-14T09:05:22Z"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
} ]
}
}, {
- "id" : "http://purl.obolibrary.org/obo/GO_1901362",
- "lbl" : "organic cyclic compound biosynthetic process",
+ "id" : "http://purl.obolibrary.org/obo/GO_1901374",
+ "lbl" : "acetate ester transport",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "The chemical reactions and pathways resulting in the formation of organic cyclic compound.",
+ "val" : "The directed movement of an acetate ester into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.",
"xrefs" : [ "GOC:TermGenie" ]
},
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "organic cyclic compound anabolism",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "organic cyclic compound biosynthesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "organic cyclic compound formation",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "organic cyclic compound synthesis",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
"basicPropertyValues" : [ {
"pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
"val" : "bf"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2012-09-14T09:05:22Z"
+ "val" : "2012-09-28T10:42:13Z"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
"val" : "biological_process"
@@ -124486,55 +125361,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_1902262",
- "lbl" : "apoptotic process involved in blood vessel morphogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any apoptotic process that is involved in blood vessel morphogenesis.",
- "xrefs" : [ "GOC:TermGenie", "GOC:dph", "GOC:mtg_apoptosis", "PMID:16163358" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "apoptotic cell death involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "apoptotic programmed cell death involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "programmed cell death by apoptosis involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "apoptosis involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "apoptotic program involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "type I programmed cell death involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "signaling (initiator) caspase activity involved in patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "dph"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2013-06-25T16:16:00Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_1902337",
"lbl" : "regulation of apoptotic process involved in morphogenesis",
@@ -127797,63 +128623,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_1904018",
- "lbl" : "positive regulation of vasculature development",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that activates or increases the frequency, rate or extent of vasculature development.",
- "xrefs" : [ "GOC:TermGenie", "GO_REF:0000058", "PMID:21472453" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "up regulation of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up-regulation of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "upregulation of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "activation of vasculature development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "activation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "positive regulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "up regulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "up-regulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "upregulation of vascular system development",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sl"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2015-03-06T22:17:04Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_1904057",
"lbl" : "negative regulation of sensory perception of pain",
@@ -131538,145 +132307,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_1905553",
- "lbl" : "regulation of blood vessel branching",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that modulates the frequency, rate or extent of blood vessel branching.",
- "xrefs" : [ "GOC:BHF", "GOC:BHF_telomere", "GOC:TermGenie", "GOC:nc", "GO_REF:0000058", "PMID:23201774" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "nc"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2016-10-12T14:19:33Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_1905554",
- "lbl" : "negative regulation of vessel branching",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching.",
- "xrefs" : [ "GOC:BHF", "GOC:BHF_telomere", "GOC:TermGenie", "GOC:nc", "GO_REF:0000058", "PMID:23201774" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "down regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "down regulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "down-regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "down-regulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "downregulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "downregulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "negative regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "inhibition of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "inhibition of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "nc"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2016-10-12T14:19:41Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_1905555",
- "lbl" : "positive regulation of blood vessel branching",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that activates or increases the frequency, rate or extent of blood vessel branching.",
- "xrefs" : [ "GOC:BHF", "GOC:BHF_telomere", "GOC:TermGenie", "GOC:nc", "GO_REF:0000058", "PMID:23201774" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "positive regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up regulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up-regulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "up-regulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "upregulation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "upregulation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "activation of branching involved in blood vessel morphogenesis",
- "xrefs" : [ "GOC:TermGenie" ]
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "activation of patterning of blood vessels",
- "xrefs" : [ "GOC:TermGenie" ]
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "nc"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2016-10-12T14:19:49Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_1905747",
"lbl" : "negative regulation of saliva secretion",
@@ -132780,26 +133410,6 @@
"val" : "biological_process"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/GO_2000181",
- "lbl" : "negative regulation of blood vessel morphogenesis",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis.",
- "xrefs" : [ "GOC:dph", "GOC:yaf" ]
- },
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "dph"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2010-10-13T12:46:31Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
- "val" : "biological_process"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/GO_2000241",
"lbl" : "regulation of reproductive process",
@@ -132869,6 +133479,7 @@
"val" : "Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity.",
"xrefs" : [ "GOC:obol" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "negative regulation of receptor activity"
@@ -132896,6 +133507,7 @@
"val" : "Any process that activates or increases the frequency, rate or extent of signaling receptor activity.",
"xrefs" : [ "GOC:obol" ]
},
+ "subsets" : [ "http://purl.obolibrary.org/obo/go#term_scheduled_for_obsoletion" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "positive regulation of signalling receptor activity"
@@ -133816,7 +134428,7 @@
"meta" : {
"definition" : {
"val" : "Deviation from the norm of height with respect to that which is expected according to age and gender norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -133827,8 +134439,8 @@
"val" : "UMLS:C4025901"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T02:20:00Z"
@@ -133841,7 +134453,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the female internal genitalia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -133858,7 +134470,7 @@
"meta" : {
"definition" : {
"val" : "Dysfunction of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -133882,7 +134494,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -133894,12 +134506,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small uterus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped uterus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:35850006"
@@ -133921,7 +134533,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C0149632"
@@ -133934,12 +134546,12 @@
"meta" : {
"definition" : {
"val" : "Diverticulum (sac or pouch) in the wall of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Bladder diverticula",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:C562406"
@@ -133956,7 +134568,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the male internal genitalia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate." ],
"xrefs" : [ {
@@ -133970,13 +134582,13 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation of the prostate.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of the prostate",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D011472"
@@ -134002,13 +134614,13 @@
"meta" : {
"definition" : {
"val" : "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased function of male gonad",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D005058"
@@ -134029,13 +134641,13 @@
"meta" : {
"definition" : {
"val" : "Absence of any measurable level of sperm in his semen.",
- "xrefs" : [ "HPO:probinson", "PMID:20514278" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20514278" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent sperm in semen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D053713"
@@ -134054,13 +134666,13 @@
"meta" : {
"definition" : {
"val" : "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Testicular degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:17585008"
@@ -134075,7 +134687,7 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation of the epididymis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D004823"
@@ -134092,7 +134704,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of male external genitalia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025897"
@@ -134105,7 +134717,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the testicle (the male gonad).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134169,7 +134781,7 @@
"meta" : {
"definition" : {
"val" : "Lack of external genitalia in a male or female individual.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134232,14 +134844,14 @@
"meta" : {
"definition" : {
"val" : "Midline indentation or cleft of the scrotum.",
- "xrefs" : [ "HPO:probinson", "PMID:23650202" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23650202" ]
},
"comments" : [ "A testis may or may not be present in each half of the scrotum." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft of scrotum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Scrotal cleft"
@@ -134257,7 +134869,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134270,7 +134882,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped male genitalia",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1852534"
@@ -134290,7 +134902,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormally large testes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134311,13 +134923,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the female external genitalia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal female external genitalia",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021822"
@@ -134330,13 +134942,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the clitoris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the clit",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025893"
@@ -134349,7 +134961,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the clitoris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134362,7 +134974,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped clit",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844527"
@@ -134375,7 +134987,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134402,7 +135014,7 @@
"meta" : {
"definition" : {
"val" : "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134422,13 +135034,13 @@
"meta" : {
"definition" : {
"val" : "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra kidney",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Supernumerary kidney"
@@ -134439,8 +135051,8 @@
"val" : "UMLS:C0266298"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-25T12:45:00Z"
@@ -134453,7 +135065,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The kidney is a paired organ whose primary function is the production of urine." ],
"synonyms" : [ {
@@ -134490,7 +135102,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134526,7 +135138,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the urinary system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134552,7 +135164,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal functionality of the genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134580,7 +135192,7 @@
"meta" : {
"definition" : {
"val" : "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134599,8 +135211,8 @@
"val" : "UMLS:C1858565"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-25T12:45:00Z"
@@ -134613,7 +135225,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplasia of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal." ],
"synonyms" : [ {
@@ -134630,7 +135242,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped kidneys",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:32659003"
@@ -134655,7 +135267,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the renal tubules.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine." ],
"synonyms" : [ {
@@ -134676,7 +135288,7 @@
"meta" : {
"definition" : {
"val" : "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.",
- "xrefs" : [ "HPO:probinson", "PMID:27211375" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:27211375" ]
},
"comments" : [ "Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis." ],
"synonyms" : [ {
@@ -134701,13 +135313,13 @@
"meta" : {
"definition" : {
"val" : "Increased levels of protein in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine protein levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -134728,7 +135340,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the glomerulus.",
- "xrefs" : [ "Eurenomics:ewuehl", "PMID:18184729" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl", "PMID:18184729" ]
},
"comments" : [ "Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation." ],
"synonyms" : [ {
@@ -134749,7 +135361,7 @@
"meta" : {
"definition" : {
"val" : "A height above that which is expected according to age and gender norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134772,8 +135384,8 @@
"val" : "UMLS:C0241240"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T02:21:00Z"
@@ -134795,7 +135407,7 @@
"meta" : {
"definition" : {
"val" : "An increased rate of urine production.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An excessive volume of urination for an adult is more than 2.5 liters of urine per day." ],
"synonyms" : [ {
@@ -134826,7 +135438,7 @@
"meta" : {
"definition" : {
"val" : "Agenesis, that is, failure of the kidney to develop during embryogenesis and development.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Renal agenesis can occur as a unilateral or bilateral trait." ],
"synonyms" : [ {
@@ -134837,7 +135449,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing kidney",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Renal aplasia"
@@ -134867,9 +135479,9 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the size of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
- "comments" : [ "The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography." ],
+ "comments" : [ "The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -134901,7 +135513,7 @@
"meta" : {
"definition" : {
"val" : "A fluid filled sac in the kidney.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -134916,11 +135528,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Cystic kidneys",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Renal cysts",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D052177"
@@ -134944,7 +135556,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -134977,7 +135589,7 @@
"meta" : {
"definition" : {
"val" : "A phenotypic abnormality.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This is the root of the phenotypic abnormality subontology of the HPO." ],
"synonyms" : [ {
@@ -134995,7 +135607,7 @@
"meta" : {
"definition" : {
"val" : "The presence of any abnormality of the genitourinary system.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -135057,7 +135669,7 @@
"meta" : {
"definition" : {
"val" : "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content." ],
"synonyms" : [ {
@@ -135069,7 +135681,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Increased calcium level in kidney",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009397"
@@ -135088,13 +135700,13 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation affecting the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Kidney inflammation",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009393"
@@ -135120,7 +135732,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal function of filtrating structures in kidney",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Renal tubular defect"
@@ -135141,7 +135753,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -135178,7 +135790,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a leiomyoma of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Leiomyoma is a benign neoplasm derived from smooth muscle cells." ],
"synonyms" : [ {
@@ -135249,7 +135861,7 @@
"meta" : {
"definition" : {
"val" : "Decreased functionality of the female gonads, i.e., of the ovary.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -135268,14 +135880,14 @@
"meta" : {
"definition" : {
"val" : "A decreased functionality of the gonad.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased activity of gonads",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007006"
@@ -135292,7 +135904,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a bifid uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts." ],
"xrefs" : [ {
@@ -135306,7 +135918,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the ovary.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -135338,7 +135950,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the vagina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -135359,7 +135971,7 @@
"meta" : {
"definition" : {
"val" : "Aplasia of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -135383,7 +135995,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of head and neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -135405,14 +136017,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the mouth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal mouth",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135433,14 +136045,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the tongue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal tongue",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135448,11 +136060,11 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Glossal abnormality",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Lingual abnormality",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135476,20 +136088,20 @@
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Glossal hypertrophy",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Lingual hyperplasia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Lingual hypertrophy",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally large tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperplasia of the tongue"
@@ -135500,7 +136112,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135528,13 +136140,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal lip",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135547,17 +136159,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2183966"
@@ -135570,7 +136182,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -135588,7 +136200,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the teeth.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"comments" : [ "Any abnormality of the primary (deciduous) or permanent teeth." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -135656,7 +136268,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the gingiva (also known as gums).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -135664,7 +136276,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the gums",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Gingival abnormality"
@@ -135688,7 +136300,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally small tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased size of tongue"
@@ -135714,7 +136326,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of the tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D014060"
@@ -135742,7 +136354,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the palate, i.e., of roof of the mouth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -135753,7 +136365,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the roof of the mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Palatal anomaly",
@@ -135773,7 +136385,7 @@
"meta" : {
"definition" : {
"val" : "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -135783,15 +136395,14 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Cleft hard and soft palate",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Cleft of hard and soft palate",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
- "val" : "Cleft of palate",
- "xrefs" : [ "Facebase" ]
+ "val" : "Cleft of palate"
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135800,15 +136411,15 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft roof of mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Palatoschisis",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Uranostaphyloschisis",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4876"
@@ -135828,44 +136439,6 @@
"val" : "HP:0410004"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/HP_0000176",
- "lbl" : "Submucous cleft hard palate",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.",
- "xrefs" : [ "HPO:probinson", "PMID:19779505" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "Partial thickness cleft hard palate",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Submucosal cleft palate"
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "Submucous clefting"
- } ],
- "xrefs" : [ {
- "val" : "SNOMEDCT_US:43437003"
- }, {
- "val" : "UMLS:C0432103"
- }, {
- "val" : "UMLS:C4020894"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "HP:0000208"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "HP:0002746"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val" : "HP:0009091"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0000177",
"lbl" : "Abnormal upper lip morphology",
@@ -135873,7 +136446,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the upper lip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -135884,17 +136457,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of the upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025884"
@@ -135907,7 +136480,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lower lip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -135918,17 +136491,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of the lower lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the lower lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the lower lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025883"
@@ -135941,26 +136514,26 @@
"meta" : {
"definition" : {
"val" : "Decreased width of the upper lip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased height of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased upper labial height",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased upper labial length",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased vertical length of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -135969,11 +136542,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shortening of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical deficiency of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1848977"
@@ -135990,18 +136563,18 @@
"meta" : {
"definition" : {
"val" : "A facial appearance characterized by a permanently or nearly permanently opened mouth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Gaped jawed appearance",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Gaped mouthed appearance",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136010,12 +136583,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Slack jawed appearance",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Open mouth appearance",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:262016004"
@@ -136025,18 +136598,21 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0000202",
- "lbl" : "Oral cleft",
+ "lbl" : "Orofacial cleft",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.",
- "xrefs" : [ "HPO:probinson", "PMID:21331089" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21331089" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft of the mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Oral cleft"
}, {
"pred" : "hasExactSynonym",
"val" : "Oral clefting"
@@ -136064,12 +136640,12 @@
"meta" : {
"definition" : {
"val" : "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Cheiloschisis of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136078,7 +136654,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Harelip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -136108,7 +136684,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Gingival enlargement",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Gingival hyperplasia"
@@ -136116,7 +136692,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Gum enlargement",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Gum hypertrophy"
@@ -136165,7 +136741,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated palate",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "High arched palate"
@@ -136183,7 +136759,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased palatal height",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Palate high-arched"
@@ -136220,23 +136796,23 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the gingiva.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Gingival inflammation",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflamed gums",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Red and swollen gums",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D005891"
@@ -136253,13 +136829,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal head",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136280,7 +136856,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).",
- "xrefs" : [ "HPO:probinson", "PMID:12825844" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:12825844" ]
},
"comments" : [ "Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months." ],
"xrefs" : [ {
@@ -136294,7 +136870,7 @@
"meta" : {
"definition" : {
"val" : "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.",
- "xrefs" : [ "HPO:probinson", "PMID:18211712", "PMID:19410151" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18211712", "PMID:19410151" ]
},
"comments" : [ "Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord." ],
"synonyms" : [ {
@@ -136307,7 +136883,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Too much cerebrospinal fluid in the brain",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006849"
@@ -136331,7 +136907,7 @@
"meta" : {
"definition" : {
"val" : "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel)." ],
"synonyms" : [ {
@@ -136353,19 +136929,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wide fontanelles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Large bregma sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Large, late-closing fontanelle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Wide bregma sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:276709006"
@@ -136390,17 +136966,17 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the size of the skull.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of head size",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranium size",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136417,13 +136993,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase of density of the bones making up the calvaria.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Dense skull cap",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1854834"
@@ -136444,45 +137020,45 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormally small head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Decreased size of head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormally small cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally small skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased circumference of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased size of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136494,11 +137070,11 @@
}, {
"pred" : "hasExactSynonym",
"val" : "small calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "small cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4310"
@@ -136528,7 +137104,7 @@
"meta" : {
"definition" : {
"val" : "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -136536,17 +137112,17 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Microcephaly, progressive",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressively abnormally small cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressively abnormally small skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1850456"
@@ -136567,49 +137143,49 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Big calvaria",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Big cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Big head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Big skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Increased size of head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Large calvaria",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Large cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Large skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased size of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136627,7 +137203,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Megacephaly",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4335"
@@ -136658,31 +137234,31 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the face.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the countenance",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the physiognomy",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the visage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Disorder of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal face",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136691,24 +137267,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Facial abnormality",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Disorder of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Anomaly of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Anomaly of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Facial anomaly",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:118930001"
@@ -136733,30 +137309,30 @@
"meta" : {
"definition" : {
"val" : "A face that is short and narrow.",
- "xrefs" : [ "HP:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term represents a combination of two terms, short face and narrow face." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Facial hypoplasia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Microface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Microfacies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short and narrow face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136765,7 +137341,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855538"
@@ -136786,21 +137362,21 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elongation of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased height of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased length of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased vertical dimension of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -136808,34 +137384,34 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Long facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical Facial Excess",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Vertical elongation of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Vertical enlargement of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical excess of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical hyperplasia of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Vertical overgrowth of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836047"
@@ -136852,37 +137428,37 @@
"meta" : {
"definition" : {
"val" : "An increased amount of subcutaneous fat tissue in the face.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Increased amount of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased amount of facial fat",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased volume of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Facial fat hyperplasia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Facial fat hypertrophy",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hyperplasia of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypertrophy of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025868"
@@ -136899,7 +137475,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the forehead.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -136909,22 +137485,22 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the frontal region of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of the forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025867"
@@ -136942,11 +137518,11 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Malformation of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025866"
@@ -136959,26 +137535,26 @@
"meta" : {
"definition" : {
"val" : "Loss of normal subcutaneous fat tissue in the face.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Decreased amount of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased amount of facial fat",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased volume of facial adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of facial fat",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Loss of facial subcutaneous adipose tissue"
@@ -136997,7 +137573,7 @@
"meta" : {
"definition" : {
"val" : "Increased prominence or roundness of soft tissues between zygomata and mandible.",
- "xrefs" : [ "DDD:awilkie" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-2972-5481" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -137016,7 +137592,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -137025,20 +137601,20 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Chubby cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hyperplasia of cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypertrophy of cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Puffy cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1866231"
@@ -137066,14 +137642,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -137090,7 +137666,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.",
- "xrefs" : [ "HPO:probinson", "PMID:19125436" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125436" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -137106,12 +137682,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021811"
@@ -137138,7 +137714,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Circular face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -137151,7 +137727,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Round facial shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Round facies"
@@ -137178,24 +137754,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the eye region",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the region around the eyes",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of the orbital region of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the orbital region of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the orbital region of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025863"
@@ -137212,7 +137788,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased height of the forehead.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -137222,7 +137798,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Tall forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0239676"
@@ -137241,17 +137817,17 @@
"meta" : {
"definition" : {
"val" : "The presence of a forehead that is abnormally small.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased size of frontal region of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -137259,11 +137835,11 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypoplasia of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypotrophic forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1845250"
@@ -137280,7 +137856,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the external ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -137331,7 +137907,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal location of the ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -137352,7 +137928,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the inner ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -137374,14 +137950,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the sensory perception of sound.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal hearing",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -137398,7 +137974,7 @@
"meta" : {
"definition" : {
"val" : "A decreased magnitude of the sensory perception of sound.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing." ],
"synonyms" : [ {
@@ -137474,7 +138050,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nose.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -137484,36 +138060,36 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Nasal abnormality",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Nasal anomaly",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Nasal deformity",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Nasal malformation",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:128274005"
@@ -137534,7 +138110,7 @@
"meta" : {
"definition" : {
"val" : "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.",
- "xrefs" : [ "HPO:probinson", "PMID:19152421" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152421" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -137569,7 +138145,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the middle ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -137590,7 +138166,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the External acoustic tube (also known as the auditory canal).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -137607,7 +138183,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the cochlea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain." ],
"synonyms" : [ {
@@ -137625,7 +138201,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pinna, which is also referred to as the auricle or external ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance." ],
"synonyms" : [ {
@@ -137715,13 +138291,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation or infection of the middle ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Middle ear infection",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010033"
@@ -137790,7 +138366,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A conductive hearing impariment with greater than 90 dB loss." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -137831,14 +138407,14 @@
"meta" : {
"definition" : {
"val" : "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve)." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Hearing loss, sensorineural",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sensorineural deafness"
@@ -137892,7 +138468,7 @@
"meta" : {
"definition" : {
"val" : "A progressive form of sensorineural hearing impairment.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -137954,7 +138530,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Potato nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:C538354"
@@ -137977,7 +138553,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the choanae (the posterior nasal apertures).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025855"
@@ -137990,14 +138566,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nasal septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138005,11 +138581,11 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:95433000"
@@ -138024,19 +138600,19 @@
"meta" : {
"definition" : {
"val" : "Reduced superior to inferior length of the nasal septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138045,7 +138621,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844857"
@@ -138058,7 +138634,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Ala of nose.",
- "xrefs" : [ "HPO:probinson", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152422" ]
},
"comments" : [ "The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -138071,23 +138647,23 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of the nasal alar cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal ala",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal alar cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal ala",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal alar cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2227020"
@@ -138119,7 +138695,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased size of nasal alae",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic alae nasae"
@@ -138150,7 +138726,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Small nasal alae",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Thin hypoplastic alae nasi"
@@ -138189,17 +138765,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of mucosa of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of mucous membrane of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of nasal mucous membrane",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138216,7 +138792,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nasal tip.",
- "xrefs" : [ "HPO:probinson", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152422" ]
},
"comments" : [ "The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -138228,27 +138804,27 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025852"
@@ -138269,7 +138845,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Caved in nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138278,7 +138854,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Depressed tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138287,7 +138863,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flat tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138305,7 +138881,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Retruded tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859717"
@@ -138322,23 +138898,23 @@
"meta" : {
"definition" : {
"val" : "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.",
- "xrefs" : [ "HPO:sdoelken", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154", "PMID:19152422" ]
},
"comments" : [ "This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Bifid tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Cleft tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -138347,7 +138923,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Notched tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:249326006"
@@ -138368,26 +138944,26 @@
"meta" : {
"definition" : {
"val" : "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.",
- "xrefs" : [ "HPO:probinson", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152422" ]
},
"comments" : [ "The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Depressed dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Depressed nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138395,28 +138971,28 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Recessed dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Recessed nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Recessed nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Retruded dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Retruded nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Retruded nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1842876"
@@ -138429,7 +139005,7 @@
"meta" : {
"definition" : {
"val" : "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -138455,7 +139031,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -138465,17 +139041,17 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of the neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:298390003"
@@ -138496,13 +139072,13 @@
"meta" : {
"definition" : {
"val" : "An increased amount of subcutaneous fat tissue around the neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased fat around the neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025850"
@@ -138515,26 +139091,26 @@
"meta" : {
"definition" : {
"val" : "Diminished length of the neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Cervical shortening",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased cervical height",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased cervical length",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138560,7 +139136,7 @@
"meta" : {
"definition" : {
"val" : "Dysplasia affecting the vasculature of the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -138578,27 +139154,27 @@
"meta" : {
"definition" : {
"val" : "Increased inferior-superior length of the neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Cervical elongation",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elongated neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased cervical length",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased length of neck",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138615,14 +139191,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the eye, including location, spacing, and intraocular abnormalities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal eye",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138655,13 +139231,13 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal retina",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the retina"
@@ -138697,14 +139273,14 @@
"meta" : {
"definition" : {
"val" : "A notch or cleft of the retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Hole in the back of the eye",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3540764"
@@ -138721,7 +139297,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -138757,7 +139333,7 @@
"meta" : {
"definition" : {
"val" : "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -138789,7 +139365,7 @@
"meta" : {
"definition" : {
"val" : "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -138799,7 +139375,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged cornea",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased corneal diameter"
@@ -138830,14 +139406,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of eyesight (visual perception).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of sight",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -138858,7 +139434,7 @@
"meta" : {
"definition" : {
"val" : "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.",
- "xrefs" : [ "DDD:gblack" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -138917,7 +139493,7 @@
"meta" : {
"definition" : {
"val" : "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.",
- "xrefs" : [ "HPO:probinson", "PMID:20212494" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20212494" ]
},
"comments" : [ "Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -138971,7 +139547,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lens.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -139003,7 +139579,7 @@
"meta" : {
"definition" : {
"val" : "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity)." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139014,12 +139590,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Clouding of the lens of the eye",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cloudy lens",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Lens opacities"
@@ -139060,7 +139636,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -139079,14 +139655,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.",
- "xrefs" : [ "HPO:probinson", "PMID:24138039", "PMID:25313118", "PMID:29850208", "UManchester:psergouniotis" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0003-0986-4123", "PMID:24138039", "PMID:25313118", "PMID:29850208" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent iris",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D015783"
@@ -139107,18 +139683,18 @@
"meta" : {
"definition" : {
"val" : "Absence of the globe or eyeball.",
- "xrefs" : [ "DDD:ncarter" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_ncarter" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absence of eyeballs",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absence of globes of eyes",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Anophthalmia, clinical"
@@ -139129,29 +139705,29 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Failure of development of eyeball",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing eyeball",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Missing globe of eye",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "No eyeball",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "No globe of eye",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Ocular absence",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4864"
@@ -139179,7 +139755,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the choroid and retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The choroid is the vascular layer of the eye, located between the retina and the sclera." ],
"synonyms" : [ {
@@ -139204,7 +139780,7 @@
"meta" : {
"definition" : {
"val" : "Atrophy of the choroid and retinal layers of the fundus.",
- "xrefs" : [ "HPO:probinson", "PMID:20224472" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20224472" ]
},
"comments" : [ "Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy." ],
"synonyms" : [ {
@@ -139237,14 +139813,14 @@
"meta" : {
"definition" : {
"val" : "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.",
- "xrefs" : [ "HPO:probinson", "ORCID:0000-0003-0986-4123" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0003-0986-4123" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Retina degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D012162"
@@ -139274,7 +139850,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the uvea, the vascular layer of the eyeball.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -139291,7 +139867,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of one or all portions of the uveal tract.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139310,13 +139886,13 @@
"meta" : {
"definition" : {
"val" : "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.",
- "xrefs" : [ "ORCID:0000-0003-0986-4123" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-0986-4123" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Breakdown of light-sensitive cells in back of eye",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D058499"
@@ -139346,27 +139922,27 @@
"meta" : {
"definition" : {
"val" : "A developmental anomaly characterized by abnormal smallness of one or both eyes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Decreased size of eyeball",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Decreased size of globe of eye",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally small eyeball",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormally small globe of eye",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Microphthalmos"
@@ -139401,7 +139977,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -139440,14 +140016,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the sclera.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the outer white part of eyeball",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the sclera"
@@ -139463,7 +140039,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -139489,7 +140065,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139514,7 +140090,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system." ],
"xrefs" : [ {
@@ -139528,7 +140104,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the choroid.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -139557,14 +140133,14 @@
"meta" : {
"definition" : {
"val" : "A coloboma of the iris.",
- "xrefs" : [ "HPO:probinson", "PMID:19369671" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19369671" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cat eye",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Coloboma of iris"
@@ -139593,7 +140169,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.",
- "xrefs" : [ "DDD:ncarter" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_ncarter" ]
},
"comments" : [ "The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139612,7 +140188,7 @@
"meta" : {
"definition" : {
"val" : "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.",
- "xrefs" : [ "DDD:gblack", "PMID:28779882" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592", "PMID:28779882" ]
},
"comments" : [ "Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139669,7 +140245,7 @@
"meta" : {
"definition" : {
"val" : "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Phthisis bulbi refers to atrophy and degeneration of a blind eye." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139686,17 +140262,17 @@
"meta" : {
"definition" : {
"val" : "The absence of all teeth from the normal series by a failure to develop.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:31468724" ]
},
"comments" : [ "Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Anodontia vera",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Complete agenesis of all teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Complete dental agenesis"
@@ -139704,25 +140280,25 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Failure of development of all teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Complete anodontia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Total anodontia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Missing all teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Total absence of all teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D000848"
@@ -139747,7 +140323,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the dental enamel.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139770,21 +140346,21 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Defective tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Dystrophic tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of dental enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021800"
@@ -139805,18 +140381,18 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of teeth.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Decreased size of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Underdevelopment of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic teeth"
@@ -139844,24 +140420,24 @@
"meta" : {
"definition" : {
"val" : "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:19125428" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:19125428" ]
},
"comments" : [ "Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Hypotrophic tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased width of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Small teeth"
@@ -139869,7 +140445,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Tooth hypoplasia"
@@ -139897,7 +140473,7 @@
"meta" : {
"definition" : {
"val" : "Developmental dysplasia of dentin.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"comments" : [ "This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -139916,21 +140492,21 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the periodontium.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Gum disease",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Periodontal disease"
}, {
"pred" : "hasExactSynonym",
"val" : "Pyorrhea",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D005882"
@@ -139966,7 +140542,7 @@
"meta" : {
"definition" : {
"val" : "A developmental dysplasia of the dental enamel.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:18499550" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:18499550" ]
},
"comments" : [ "Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -140001,7 +140577,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system." ],
"synonyms" : [ {
@@ -140038,77 +140614,90 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0000708",
- "lbl" : "Behavioral abnormality",
+ "lbl" : "Atypical behavior",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities."
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral abnormality"
+ "val" : "Behavioral abnormality",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral changes"
+ "val" : "Behavioral changes",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral disorders"
+ "val" : "Behavioral disorders",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral disturbances"
+ "val" : "Behavioral disturbances",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral problems"
+ "val" : "Behavioral problems",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Behavioral symptoms",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioral/psychiatric abnormalities"
+ "val" : "Behavioral/psychiatric abnormalities",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Behavioural abnormality"
+ "val" : "Behavioural abnormality",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Behavioural changes"
+ "val" : "Behavioural changes",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Behavioural disorders"
+ "val" : "Behavioural disorders",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Behavioural disturbances"
+ "val" : "Behavioural disturbances",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Behavioural problems"
+ "val" : "Behavioural problems",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Behavioural/Psychiatric abnormality"
+ "val" : "Behavioural symptoms",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Psychiatric disorders"
+ "val" : "Behavioural/Psychiatric abnormality",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Psychiatric disturbances"
+ "val" : "Psychiatric disorders",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
- "pred" : "hasRelatedSynonym",
- "val" : "Behavioral symptoms"
- }, {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "pred" : "hasRelatedSynonym",
- "val" : "Behavioural symptoms"
+ "pred" : "hasExactSynonym",
+ "val" : "Psychiatric disturbances",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
} ],
"xrefs" : [ {
"val" : "MSH:D000066553"
@@ -140124,6 +140713,21 @@
"val" : "UMLS:C0233514"
} ],
"basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-8430-6039"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4142-7153"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4422-1708"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0003-3777-1389"
+ }, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "HP:0000715"
}, {
@@ -140140,18 +140744,38 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.",
+ "val" : "A state of unease characterized by diffuse motor activity or motion, subject to limited control, nonproductive, or disorganized behavior.",
"xrefs" : [ "PMID:28332736" ]
},
"synonyms" : [ {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
- "val" : "Restlessness"
+ "val" : "Fidgetiness",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Restiveness",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:162221009"
}, {
"val" : "UMLS:C3887611"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-8430-6039"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4142-7153"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4422-1708"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0003-3777-1389"
} ]
}
}, {
@@ -140167,6 +140791,22 @@
"val" : "SNOMEDCT_US:24199005"
}, {
"val" : "UMLS:C0085631"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-8430-6039"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4142-7153"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4422-1708"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0003-3777-1389"
} ]
}
}, {
@@ -140196,7 +140836,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves." ],
"synonyms" : [ {
@@ -140230,7 +140870,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140258,7 +140898,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the sternum, also known as the breastbone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -140318,7 +140958,7 @@
"meta" : {
"definition" : {
"val" : "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -140346,7 +140986,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the breast.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -140365,14 +141005,14 @@
"meta" : {
"definition" : {
"val" : "Abnormal development of large mammary glands in males resulting in breast enlargement.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged male breast",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Gynaecomastia"
@@ -140396,7 +141036,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the rib.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -140426,7 +141066,7 @@
"meta" : {
"definition" : {
"val" : "Reduced rib length.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -140462,7 +141102,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140492,7 +141132,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140514,13 +141154,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the thymus.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small thymus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Thymic hypoplasia"
@@ -140543,14 +141183,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the scapula, also known as the shoulder blade.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the shoulder blade",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025828"
@@ -140563,7 +141203,7 @@
"meta" : {
"definition" : {
"val" : "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140573,7 +141213,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood in urine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006417"
@@ -140592,7 +141232,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140624,7 +141264,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140642,7 +141282,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the endocrine system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions." ],
"synonyms" : [ {
@@ -140666,7 +141306,7 @@
"meta" : {
"definition" : {
"val" : "A group of abnormalities characterized by hyperglycemia and glucose intolerance.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D003920"
@@ -140696,7 +141336,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140726,7 +141366,7 @@
"meta" : {
"definition" : {
"val" : "Deficiency of thyroid hormone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -140735,7 +141375,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underactive thyroid",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007037"
@@ -140759,7 +141399,7 @@
"meta" : {
"definition" : {
"val" : "The presence of chronic increased pressure in the systemic arterial system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both." ],
"synonyms" : [ {
@@ -140772,7 +141412,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "High blood pressure",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006973"
@@ -140800,7 +141440,7 @@
"meta" : {
"definition" : {
"val" : "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.",
- "xrefs" : [ "HPO:probinson", "PMID:25914878" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:25914878" ]
},
"comments" : [ "GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults." ],
"synonyms" : [ {
@@ -140834,7 +141474,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of insulin combined with a decreased concentration of glucose in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar." ],
"synonyms" : [ {
@@ -140855,7 +141495,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the parathyroid gland.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone." ],
"synonyms" : [ {
@@ -140879,7 +141519,7 @@
"meta" : {
"definition" : {
"val" : "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140912,7 +141552,7 @@
"meta" : {
"definition" : {
"val" : "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025821"
@@ -140925,7 +141565,7 @@
"meta" : {
"definition" : {
"val" : "A type of hypothyroidism that results from a defect in the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:111566002"
@@ -140940,7 +141580,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -140968,7 +141608,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the adrenal glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -141001,13 +141641,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overactive thyroid",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006980"
@@ -141028,7 +141668,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of insulin in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -141049,13 +141689,13 @@
"meta" : {
"definition" : {
"val" : "Excessive production of parathyroid hormone (PTH) by the parathyroid glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated blood parathyroid hormone level",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006961"
@@ -141072,7 +141712,7 @@
"meta" : {
"definition" : {
"val" : "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Disorder resulting from excess pituitary gland production of growth hormone (hGH)." ],
"synonyms" : [ {
@@ -141109,7 +141749,7 @@
"meta" : {
"definition" : {
"val" : "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.",
- "xrefs" : [ "HPO:probinson", "PMID:11443143" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:11443143" ]
},
"comments" : [ "Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation." ],
"synonyms" : [ {
@@ -141151,7 +141791,7 @@
"meta" : {
"definition" : {
"val" : "An enlargement of the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -141185,18 +141825,18 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the parathyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small parathyroid glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped parathyroid glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1389851"
@@ -141209,7 +141849,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025819"
@@ -141229,7 +141869,7 @@
"meta" : {
"definition" : {
"val" : "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).",
- "xrefs" : [ "HPO:probinson", "PMID:12466332" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:12466332" ]
},
"xrefs" : [ {
"val" : "MSH:C580003"
@@ -141246,7 +141886,7 @@
"meta" : {
"definition" : {
"val" : "Decreased inferosuperior length of the sternum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141272,7 +141912,7 @@
"meta" : {
"definition" : {
"val" : "Underdeveloped scapula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141294,7 +141934,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small shoulder blade",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846434"
@@ -141314,7 +141954,7 @@
"meta" : {
"definition" : {
"val" : "Malformation of the rib cage.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -141332,7 +141972,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the clavicles (collar bones).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141342,7 +141982,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal collarbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the clavicle"
@@ -141358,7 +141998,7 @@
"meta" : {
"definition" : {
"val" : "Increased length of the clavicles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -141367,7 +142007,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long collarbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:249687007"
@@ -141386,18 +142026,18 @@
"meta" : {
"definition" : {
"val" : "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft ribs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Split ribs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4721788"
@@ -141410,7 +142050,7 @@
"meta" : {
"definition" : {
"val" : "Reduced length of the clavicles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141423,7 +142063,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short collarbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped clavicles"
@@ -141451,7 +142091,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
- "xrefs" : [ "HPO:probinson", "PMID:15163819" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:15163819" ]
},
"comments" : [ "See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa." ],
"xrefs" : [ {
@@ -141465,7 +142105,7 @@
"meta" : {
"definition" : {
"val" : "A developmental anomaly with absence of one or more ribs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141501,7 +142141,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skeletal system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -141527,14 +142167,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal spine",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -141565,7 +142205,7 @@
"meta" : {
"definition" : {
"val" : "A flattened vertebral body shape with reduced distance between the vertebral endplates.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141575,7 +142215,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flattened vertebrae",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flattened vertebral bodies"
@@ -141616,7 +142256,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -141626,7 +142266,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of the skull bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0235942"
@@ -141639,7 +142279,7 @@
"meta" : {
"definition" : {
"val" : "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.",
- "xrefs" : [ "HPO:probinson", "PMID:21234807" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21234807" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -141682,7 +142322,7 @@
"meta" : {
"definition" : {
"val" : "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).",
- "xrefs" : [ "HPO:probinson", "PMID:28293453" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:28293453" ]
},
"comments" : [ "Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures." ],
"xrefs" : [ {
@@ -141704,13 +142344,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of shaft of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality involving the diaphyses of the limbs"
@@ -141718,7 +142358,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of shaft of long bone of the limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the diaphyses"
@@ -141746,7 +142386,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short shaft of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025815"
@@ -141759,13 +142399,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the wide portion of a long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025814"
@@ -141782,13 +142422,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the ilium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small wings of the pelvic girdle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short and small iliac bones"
@@ -141816,7 +142456,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -141826,11 +142466,11 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Dermatopathy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dermopathy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Skin abnormality"
@@ -141875,7 +142515,7 @@
"meta" : {
"definition" : {
"val" : "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis." ],
"synonyms" : [ {
@@ -141904,7 +142544,7 @@
"meta" : {
"definition" : {
"val" : "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future." ],
"xrefs" : [ {
@@ -141928,7 +142568,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the sweat gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -141938,7 +142578,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormalities of sweating",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -141963,7 +142603,7 @@
"meta" : {
"definition" : {
"val" : "A condition in which the skin can be stretched beyond normal, and then returns to its initial position.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -142004,13 +142644,13 @@
"meta" : {
"definition" : {
"val" : "Hypertrichosis is increased hair growth that is abnormal in quantity or location.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Excessive hair growth",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
@@ -142036,7 +142676,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of fatty tissue below the skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025813"
@@ -142049,7 +142689,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142072,7 +142712,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the biliary tree.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -142095,13 +142735,13 @@
"meta" : {
"definition" : {
"val" : "Loss of iris tissue (atrophy)",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Iris degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:95709007"
@@ -142116,14 +142756,14 @@
"meta" : {
"definition" : {
"val" : "Diffusely large eye (with megalocornea) without glaucoma.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that Increased size of palpebral fissues is not a synonym of this term." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of eyes",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -142134,16 +142774,16 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Increased size of palpebral fissures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Large eyeballs",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Large of palpebral fissures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:246920008"
@@ -142191,13 +142831,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the iris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of iris",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007500"
@@ -142214,7 +142854,7 @@
"meta" : {
"definition" : {
"val" : "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.",
- "xrefs" : [ "ORCID:0000-0003-0986-4123" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-0986-4123" ]
},
"xrefs" : [ {
"val" : "MSH:D012162"
@@ -142235,7 +142875,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the size or morphology of the cornea.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025802"
@@ -142248,7 +142888,7 @@
"meta" : {
"definition" : {
"val" : "The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"xrefs" : [ {
@@ -142287,14 +142927,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality affecting one or both hands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal hands",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -142327,7 +142967,7 @@
"meta" : {
"definition" : {
"val" : "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -142336,7 +142976,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short fingers or toes",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D059327"
@@ -142378,14 +143018,14 @@
"meta" : {
"definition" : {
"val" : "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra finger",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Finger polydactyly"
@@ -142395,7 +143035,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary finger",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MEDDRA:10036064"
@@ -142412,24 +143052,24 @@
"meta" : {
"definition" : {
"val" : "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polydactyly affecting the 5th finger"
@@ -142461,12 +143101,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0001167",
- "lbl" : "Abnormality of finger",
+ "lbl" : "Abnormal finger morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "An anomaly of a finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142554,13 +143194,13 @@
"meta" : {
"definition" : {
"val" : "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra thumb",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polydactyly affecting the thumb"
@@ -142570,7 +143210,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary thumb",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "thumb polydactyly"
@@ -142605,7 +143245,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect resulting in the presence of fewer than the normal number of fingers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142626,14 +143266,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormal wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal carpal bones"
@@ -142667,7 +143307,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142685,7 +143325,7 @@
"meta" : {
"definition" : {
"val" : "Decreased length of the umbilical cord.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142705,7 +143345,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality." ],
"synonyms" : [ {
@@ -142741,7 +143381,7 @@
"meta" : {
"definition" : {
"val" : "Ossification of carpal bones occurs later than age-adjusted norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -142760,7 +143400,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation of wrist bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1841684"
@@ -142779,7 +143419,7 @@
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -142796,7 +143436,7 @@
"meta" : {
"definition" : {
"val" : "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -142825,7 +143465,7 @@
"meta" : {
"definition" : {
"val" : "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.",
- "xrefs" : [ "HPO:probinson", "PMID:15816939" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:15816939" ]
},
"comments" : [ "A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold." ],
"synonyms" : [ {
@@ -142835,10 +143475,6 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
"pred" : "hasExactSynonym",
"val" : "Seizures"
- }, {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
- "pred" : "hasExactSynonym",
- "val" : "Seizures"
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -142929,7 +143565,7 @@
"meta" : {
"definition" : {
"val" : "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia." ],
"synonyms" : [ {
@@ -142964,7 +143600,7 @@
"meta" : {
"definition" : {
"val" : "Reduction of neurologic reflexes such as the knee-jerk reaction.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -142993,7 +143629,7 @@
"meta" : {
"definition" : {
"val" : "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.",
- "xrefs" : [ "HPO:probinson", "PMID:12169461", "PMID:26331051" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:12169461", "PMID:26331051" ]
},
"comments" : [ "Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss." ],
"synonyms" : [ {
@@ -143003,7 +143639,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Degeneration of cerebellum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Infratentorial atrophy"
@@ -143038,7 +143674,7 @@
"meta" : {
"definition" : {
"val" : "Absence of neurologic reflexes such as the knee-jerk reaction.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex)." ],
"synonyms" : [ {
@@ -143084,7 +143720,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the meninges.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D008581"
@@ -143101,7 +143737,7 @@
"meta" : {
"definition" : {
"val" : "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -143137,7 +143773,7 @@
"meta" : {
"definition" : {
"val" : "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.",
- "xrefs" : [ "HPO:probinson", "PMID:20941667" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20941667" ]
},
"comments" : [ "The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect." ],
"synonyms" : [ {
@@ -143195,7 +143831,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the cerebellum.",
- "xrefs" : [ "HPO:probinson", "PMID:27160001" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:27160001" ]
},
"comments" : [ "A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors." ],
"synonyms" : [ {
@@ -143231,7 +143867,7 @@
"meta" : {
"definition" : {
"val" : "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.",
- "xrefs" : [ "HPO:probinson", "PMID:26331051", "PMID:27160001" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:26331051", "PMID:27160001" ]
},
"comments" : [ "By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments." ],
"synonyms" : [ {
@@ -143247,12 +143883,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small cerebellum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped cerebellum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C562568"
@@ -143282,7 +143918,7 @@
"meta" : {
"definition" : {
"val" : "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less." ],
"synonyms" : [ {
@@ -143321,13 +143957,13 @@
"meta" : {
"definition" : {
"val" : "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cranial defect",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -143335,7 +143971,7 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "Calvarial defect",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025787"
@@ -143352,13 +143988,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of joints",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -143389,7 +144025,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of a joint.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143399,7 +144035,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Joint inflammation",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D001168"
@@ -143416,7 +144052,7 @@
"meta" : {
"definition" : {
"val" : "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143476,7 +144112,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in the freedom of movement of one or more joints.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143514,7 +144150,7 @@
"meta" : {
"definition" : {
"val" : "The ability of a joint to move beyond its normal range of motion.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143561,7 +144197,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hip joint.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143583,7 +144219,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the hip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143615,7 +144251,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143651,7 +144287,7 @@
"meta" : {
"definition" : {
"val" : "Increased pressure in the portal vein.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg." ],
"xrefs" : [ {
@@ -143669,7 +144305,7 @@
"meta" : {
"definition" : {
"val" : "Reduced ability of the liver to perform its functions.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -143686,7 +144322,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Liver dysfunction, mild",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D008107"
@@ -143721,14 +144357,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal hand muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025786"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:59:00Z"
@@ -143743,7 +144379,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal calf muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of calf musculature"
@@ -143752,8 +144388,8 @@
"val" : "UMLS:C4021779"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:18:00Z"
@@ -143769,13 +144405,13 @@
"meta" : {
"definition" : {
"val" : "Simultaneous enlargement of the liver and spleen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged liver and spleen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:36760000"
@@ -143783,8 +144419,8 @@
"val" : "UMLS:C0019214"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T10:51:00Z"
@@ -143804,8 +144440,8 @@
"val" : "UMLS:C4021778"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:19:00Z"
@@ -143821,20 +144457,20 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the musculature of foot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal foot muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025785"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:21:00Z"
@@ -143849,8 +144485,8 @@
"val" : "UMLS:C4025784"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:21:00Z"
@@ -143863,7 +144499,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -143893,14 +144529,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal thigh muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025783"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:27:00Z"
@@ -143915,8 +144551,8 @@
"val" : "UMLS:C4025780"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:31:00Z"
@@ -143931,14 +144567,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal upper limb muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025779"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:40:00Z"
@@ -143953,14 +144589,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of long bones of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025778"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-17T02:37:00Z"
@@ -143975,8 +144611,8 @@
"val" : "UMLS:C4025776"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:41:00Z"
@@ -143991,8 +144627,8 @@
"val" : "UMLS:C4025775"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:42:00Z"
@@ -144005,25 +144641,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the musculature.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small skeletal muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped skeletal muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025773"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:46:00Z"
@@ -144036,25 +144672,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the muscles of the shoulder.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small shoulder muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped shoulder muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025772"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:49:00Z"
@@ -144068,19 +144704,19 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Shoulder muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wasting of shoulder muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025771"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:50:00Z"
@@ -144093,25 +144729,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the musculature of the upper limbs.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small upper limb muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped upper limb muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025770"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:51:00Z"
@@ -144124,25 +144760,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the muscles of the upper arm.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small upper arm muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped upper arm muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025769"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:52:00Z"
@@ -144161,8 +144797,8 @@
"val" : "UMLS:C4025768"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:55:00Z"
@@ -144177,19 +144813,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pelvis muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pelvis muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025766"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:56:00Z"
@@ -144202,7 +144838,7 @@
"meta" : {
"definition" : {
"val" : "Increased density of the bony tissue of the scapula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"xrefs" : [ {
@@ -144216,14 +144852,14 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of one or more carpal bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia of carpal bones"
@@ -144297,7 +144933,7 @@
"meta" : {
"definition" : {
"val" : "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile)." ],
"synonyms" : [ {
@@ -144308,7 +144944,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Faltering weight",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Postnatal failure to thrive"
@@ -144316,7 +144952,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Weight faltering",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -144352,7 +144988,7 @@
"meta" : {
"definition" : {
"val" : "A deficiency or slowing down of growth pre- and postnatally.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Poor or abnormally slow gains in weight or height in a child." ],
"synonyms" : [ {
@@ -144387,7 +145023,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Very poor growth",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:276617005"
@@ -144445,14 +145081,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
"val" : "IUGR",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "In utero growth retardation"
@@ -144530,7 +145166,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Having too much body fat",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -144553,7 +145189,7 @@
"meta" : {
"definition" : {
"val" : "Accumulation of fluid in the peritoneal cavity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -144577,7 +145213,7 @@
"meta" : {
"definition" : {
"val" : "A morphological anomaly of the rib cage.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -144595,7 +145231,7 @@
"meta" : {
"definition" : {
"val" : "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -144608,7 +145244,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Generalized overgrowth",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849265"
@@ -144631,8 +145267,8 @@
"val" : "UMLS:C4025762"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T11:05:00Z"
@@ -144645,7 +145281,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -144664,7 +145300,7 @@
"meta" : {
"definition" : {
"val" : "The presence of excess amniotic fluid in the uterus during pregnancy.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age." ],
"synonyms" : [ {
@@ -144698,28 +145334,28 @@
"meta" : {
"definition" : {
"val" : "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:19125428" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:19125428" ]
},
"comments" : [ "The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Hyperplasia of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Hypertrophy of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased width of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -144731,7 +145367,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Tooth mass excess",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:71485000"
@@ -144752,7 +145388,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the integument, which consists of the skin and the superficial fascia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Abnormality of skin, hair, or nails." ],
"xrefs" : [ {
@@ -144766,7 +145402,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hair.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -144781,7 +145417,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of the hair shaft",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0157733"
@@ -144796,7 +145432,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the larynx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -144816,7 +145452,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the cardiovascular system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The cardiovascular system consists of the heart, vasculature, and the lymphatic system." ],
"synonyms" : [ {
@@ -144855,7 +145491,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the heart.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -144868,7 +145504,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped heart",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Cardiac abnormality"
@@ -144910,7 +145546,7 @@
"meta" : {
"definition" : {
"val" : "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.",
- "xrefs" : [ "HPO:probinson", "PMID:33327983" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:33327983" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -144951,18 +145587,18 @@
"meta" : {
"definition" : {
"val" : "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.",
- "xrefs" : [ "DDD:dbrown", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
"val" : "ASD",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "An opening in the wall separating the top two chambers of the heart",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Atria septal defect"
@@ -145008,7 +145644,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the mitral valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145029,7 +145665,7 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -145043,7 +145679,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cardiac failures",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Cardiac insufficiency"
@@ -145094,13 +145730,13 @@
"meta" : {
"definition" : {
"val" : "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.",
- "xrefs" : [ "HPO:probinson", "PMID:17916581" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:17916581" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Disease of the heart muscle",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "Fyler:1840"
@@ -145121,7 +145757,7 @@
"meta" : {
"definition" : {
"val" : "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.",
- "xrefs" : [ "HPO:probinson", "PMID:31194436" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:31194436" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -145131,7 +145767,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased heart size",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006332"
@@ -145148,7 +145784,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the pulmonary valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145174,7 +145810,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of a cardiac valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145207,12 +145843,12 @@
"meta" : {
"definition" : {
"val" : "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Heart right ventricle hypertrophy",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:3609"
@@ -145231,7 +145867,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the intra-atrial or intraventricular septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145270,7 +145906,7 @@
"meta" : {
"definition" : {
"val" : "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -145308,12 +145944,12 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the aorta.",
- "xrefs" : [ "HPO:probinson", "PMID:24910511" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24910511" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal aorta morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the aorta"
@@ -145335,7 +145971,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145354,13 +145990,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the sac-like covering around the heart (pericardium).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Swelling or irritation of membrane around heart",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010493"
@@ -145377,7 +146013,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the tricuspid valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145400,7 +146036,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the right ventricle of the heart.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery." ],
"synonyms" : [ {
@@ -145425,12 +146061,12 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the left ventricle of the heart.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal heart left ventricle morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the left ventricle"
@@ -145458,7 +146094,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Heart left ventricle hypertrophy",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Left ventricular wall hypertrophy"
@@ -145484,7 +146120,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of a cardiac ventricle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145501,7 +146137,7 @@
"meta" : {
"definition" : {
"val" : "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:266249003"
@@ -145520,7 +146156,7 @@
"meta" : {
"definition" : {
"val" : "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:445512009"
@@ -145535,7 +146171,7 @@
"meta" : {
"definition" : {
"val" : "A progressive form of hearing impairment.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145556,7 +146192,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -145584,13 +146220,13 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation in the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Pancreatic inflammation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010195"
@@ -145624,7 +146260,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the spleen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system." ],
"synonyms" : [ {
@@ -145643,13 +146279,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal increased size of the spleen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased spleen size",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D013163"
@@ -145673,13 +146309,13 @@
"meta" : {
"definition" : {
"val" : "Absence (aplasia) of the spleen.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent spleen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4771"
@@ -145695,12 +146331,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0001751",
- "lbl" : "Vestibular dysfunction",
+ "lbl" : "Abnormal vestibular function",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "An abnormality of the functioning of the vestibular apparatus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body." ],
"synonyms" : [ {
@@ -145730,9 +146366,28 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Reduced functioning of the vestibular apparatus.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:32767115" ]
},
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibular deficiency"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibular dysfunction"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibular failure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibular hyporeflexia"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibular loss"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Vestibulopathy"
+ } ],
"xrefs" : [ {
"val" : "UMLS:C1848606"
} ]
@@ -145744,7 +146399,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skeleton of foot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others." ],
"synonyms" : [ {
@@ -145790,7 +146445,7 @@
"meta" : {
"definition" : {
"val" : "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145827,12 +146482,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0001780",
- "lbl" : "Abnormality of toe",
+ "lbl" : "Abnormal toe morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "An anomaly of a toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -145855,7 +146510,7 @@
"meta" : {
"definition" : {
"val" : "Accumulation of fluid in the peritoneal cavity during the fetal period.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -145875,13 +146530,13 @@
"meta" : {
"definition" : {
"val" : "Lateral deviation of the great toe (i.e., in the direction of the little toe).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bunion",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Lateral deviation of great toe"
@@ -145914,7 +146569,7 @@
"meta" : {
"definition" : {
"val" : "Reduction of total body weight.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -145939,7 +146594,7 @@
"meta" : {
"definition" : {
"val" : "A kind of polydactyly characterized by the presence of a supernumerary toe or toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -145970,14 +146625,14 @@
"meta" : {
"definition" : {
"val" : "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The modifier postaxial means that the supernumerary digit is not a hallux." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra toe attached near the little toe",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polydactyly affecting the 5th toe"
@@ -146011,7 +146666,7 @@
"meta" : {
"definition" : {
"val" : "A toe that appears disproportionately short compared to the foot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -146039,7 +146694,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Stubby toes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836195"
@@ -146071,13 +146726,13 @@
"meta" : {
"definition" : {
"val" : "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025745"
@@ -146090,7 +146745,7 @@
"meta" : {
"definition" : {
"val" : "Increased back to front length of the foot.",
- "xrefs" : [ "UHPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -146130,7 +146785,7 @@
"meta" : {
"definition" : {
"val" : "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -146147,13 +146802,13 @@
"meta" : {
"definition" : {
"val" : "Duplication of all or part of the first ray.",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"comments" : [ "This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the phalanges of the big toe",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polydactyly affecting the hallux"
@@ -146169,7 +146824,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Preaxial polydactyly of the feet",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Preaxial polydactyly, feet"
@@ -146191,12 +146846,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0001844",
- "lbl" : "Abnormality of the hallux",
+ "lbl" : "Abnormal hallux morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "This term applies for all abnormalities of the big toe, also called hallux.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -146206,7 +146861,10 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of the hallux"
} ],
"xrefs" : [ {
"val" : "UMLS:C4021773"
@@ -146219,7 +146877,7 @@
"meta" : {
"definition" : {
"val" : "Increased length of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -146232,7 +146890,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Long halluces"
@@ -146252,7 +146910,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect resulting in the presence of fewer than the normal number of toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -146280,13 +146938,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal ankle bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal tarsals"
@@ -146310,7 +146968,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched outermost bones of toes",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021772"
@@ -146337,7 +146995,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost bone of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021771"
@@ -146350,7 +147008,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hematopoietic system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes." ],
"synonyms" : [ {
@@ -146400,7 +147058,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of platelets.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation." ],
"synonyms" : [ {
@@ -146442,7 +147100,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in the number of circulating thrombocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular)." ],
"synonyms" : [ {
@@ -146485,7 +147143,7 @@
"meta" : {
"definition" : {
"val" : "A neutrophil abnormality.",
- "xrefs" : [ "HPO:probinson", "PMID:21094463", "PMID:26819959" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21094463", "PMID:26819959" ]
},
"comments" : [ "Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day." ],
"synonyms" : [ {
@@ -146512,14 +147170,14 @@
"meta" : {
"definition" : {
"val" : "An abnormally low number of neutrophils in the peripheral blood.",
- "xrefs" : [ "HPO:probinson", "PMID:25642312" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:25642312" ]
},
"comments" : [ "Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood neutrophil count",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -146552,13 +147210,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood cell count",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -146579,7 +147237,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of erythrocytes (red-blood cells).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -146610,7 +147268,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal count or structure of eosinophils.",
- "xrefs" : [ "HPO:probinson", "PMID:23154224" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23154224" ]
},
"comments" : [ "Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged." ],
"synonyms" : [ {
@@ -146628,13 +147286,13 @@
"meta" : {
"definition" : {
"val" : "Increased count of eosinophils in the blood.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood eosinophil count",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D004802"
@@ -146649,7 +147307,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of leukocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue." ],
"synonyms" : [ {
@@ -146671,13 +147329,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal decreased number of leukocytes in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased blood leukocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -146698,7 +147356,7 @@
"meta" : {
"definition" : {
"val" : "A reduced number of lymphocytes in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -146707,12 +147365,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased blood lymphocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low lymphocyte number",
- "xrefs" : [ "ORCID:0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Lymphocytopenia"
@@ -146732,7 +147390,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted." ],
"synonyms" : [ {
@@ -146780,14 +147438,14 @@
"meta" : {
"definition" : {
"val" : "Increased numbers of platelets in the peripheral blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term \"thrombocythemia\" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased number of platelets in blood",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased platelet count"
@@ -146817,7 +147475,7 @@
"meta" : {
"definition" : {
"val" : "A reduced number of reticulocytes in the peripheral blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:124961001"
@@ -146832,7 +147490,7 @@
"meta" : {
"definition" : {
"val" : "The presence of an increased mass of red blood cells in the circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -146870,12 +147528,12 @@
"meta" : {
"definition" : {
"val" : "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped erythrocytes",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Erythrocytosis"
@@ -146883,7 +147541,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased red blood cells",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polyglobulia"
@@ -146911,7 +147569,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in erythrocytes volume or hemoglobin concentration.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias." ],
"synonyms" : [ {
@@ -146925,7 +147583,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low number of red blood cells or hemoglobin",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasRelatedSynonym",
@@ -146963,12 +147621,12 @@
"meta" : {
"definition" : {
"val" : "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Blood clot in blood vessel",
- "xrefs" : [ "http://purl.obolibrary.org/obo/hp#layperson", "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "http://purl.obolibrary.org/obo/hp#layperson", "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Thromboembolic disease"
@@ -147000,7 +147658,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality or abnormal count of granulocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147023,7 +147681,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality or abnormal count of basophils.",
- "xrefs" : [ "HPO:probinson", "PMID:24075190" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24075190" ]
},
"comments" : [ "Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies." ],
"synonyms" : [ {
@@ -147041,7 +147699,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally reduced number of granulocytes in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D000380"
@@ -147060,27 +147718,24 @@
"meta" : {
"definition" : {
"val" : "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased immature red blood cells",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased number of immature red blood cells",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased reticulocyte count"
}, {
"pred" : "hasExactSynonym",
"val" : "Increased reticulocytes"
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "Polychromasia"
} ],
"xrefs" : [ {
"val" : "MSH:D045262"
@@ -147097,7 +147752,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147111,7 +147766,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Haemorrhagic disorders",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Blood coagulation disorder"
@@ -147167,7 +147822,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal acid accumulation or depletion of base.",
- "xrefs" : [ "HPO:probinson", "PMID:24381489" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24381489" ]
},
"comments" : [ "When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis." ],
"xrefs" : [ {
@@ -147189,7 +147844,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of glucose in the blood.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147198,7 +147853,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood sugar",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007003"
@@ -147244,7 +147899,7 @@
"meta" : {
"definition" : {
"val" : "Body temperature elevated above the normal range.",
- "xrefs" : [ "HPO:sdoelken", "PMID:9759682" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154", "PMID:9759682" ]
},
"comments" : [ "Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation." ],
"synonyms" : [ {
@@ -147275,14 +147930,14 @@
"meta" : {
"definition" : {
"val" : "Presence of elevated levels of ketone bodies in the body.",
- "xrefs" : [ "HPO:probinson", "PMID:28278308" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:28278308" ]
},
"comments" : [ "Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High levels of ketone bodies",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperketosis"
@@ -147310,7 +147965,7 @@
"meta" : {
"definition" : {
"val" : "Depletion of acid or accumulation base in the body fluids.",
- "xrefs" : [ "HPO:probinson", "PMID:24381489" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24381489" ]
},
"comments" : [ "When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis." ],
"xrefs" : [ {
@@ -147353,7 +148008,7 @@
"meta" : {
"definition" : {
"val" : "Obesity located preferentially in the trunk of the body as opposed to the extremities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147384,12 +148039,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small heart",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped heart",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3151525"
@@ -147402,7 +148057,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the metatarsal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147417,12 +148072,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic metatarsals"
@@ -147438,7 +148093,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the number of leukocytes in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -147452,7 +148107,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased blood leukocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007964"
@@ -147469,13 +148124,13 @@
"meta" : {
"definition" : {
"val" : "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal blood clot",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal blood clotting"
@@ -147491,13 +148146,13 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of ammonia in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood ammonia levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D022124"
@@ -147521,25 +148176,25 @@
"meta" : {
"definition" : {
"val" : "Absence or hypoplasia of toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic toe phalanges"
}, {
"pred" : "hasRelatedSynonym",
"val" : "Absent/hypoplastic toes",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3551148"
@@ -147552,7 +148207,7 @@
"meta" : {
"definition" : {
"val" : "Excretion of non-amino organic acids in urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C0241775"
@@ -147565,7 +148220,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal morphology (form) of the face or its components.",
- "xrefs" : [ "DDD:jclayton-smith" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9602-2321" ]
},
"comments" : [ "This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -147573,12 +148228,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Deformity of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Malformation of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -147586,7 +148241,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal morphology of the face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Distinctive facies"
@@ -147596,16 +148251,16 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Dysmorphic facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Facial dysmorphism",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Unusual facial appearance",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Unusual facies"
@@ -147613,12 +148268,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Distortion of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Funny looking face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:248200007"
@@ -147674,11 +148329,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased size of frontal region of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -147686,11 +148341,11 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hyperplasia of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypertrophy of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1839783"
@@ -147707,7 +148362,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the central nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147753,7 +148408,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the viscera of the abdomen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen." ],
"synonyms" : [ {
@@ -147775,7 +148430,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -147807,7 +148462,7 @@
"meta" : {
"definition" : {
"val" : "Impaired ability to absorb one or more nutrients from the intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -147833,7 +148488,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the esophagus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -147868,7 +148523,7 @@
"meta" : {
"definition" : {
"val" : "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -147921,7 +148576,7 @@
"meta" : {
"definition" : {
"val" : "Atrophy of the cortex of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025730"
@@ -147934,14 +148589,14 @@
"meta" : {
"definition" : {
"val" : "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Atrophy may be progressive over time." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Degeneration of cerebrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Supratentorial atrophy"
@@ -147974,7 +148629,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the telencephalon, which is also known as the cerebrum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -147997,7 +148652,7 @@
"meta" : {
"definition" : {
"val" : "A kind of ataxia that affects movements of the extremities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways." ],
"synonyms" : [ {
@@ -148017,14 +148672,14 @@
"meta" : {
"definition" : {
"val" : "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.",
- "xrefs" : [ "HPO:probinson", "UKT:rschuele" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "HPO_CONTRIBUTOR:UKT_rschuele" ]
},
"comments" : [ "Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Instability or lack of coordination of central trunk muscles",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Trunk ataxia"
@@ -148048,7 +148703,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148065,7 +148720,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the upper respiratory tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148087,7 +148742,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the lung.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148142,12 +148797,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small lung",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped lung",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:80825009"
@@ -148162,7 +148817,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of any part of the lung parenchyma.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148184,21 +148839,21 @@
"meta" : {
"definition" : {
"val" : "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased blood pressure in blood vessels of lungs",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Pulmonary artery hypertension"
}, {
"pred" : "hasRelatedSynonym",
"val" : "Primary pulmonary hypertension",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006976"
@@ -148250,7 +148905,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148267,7 +148922,7 @@
"meta" : {
"definition" : {
"val" : "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148303,7 +148958,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the cerebral ventricles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148320,7 +148975,7 @@
"meta" : {
"definition" : {
"val" : "An increase in size of the ventricular system of the brain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148371,7 +149026,7 @@
"meta" : {
"definition" : {
"val" : "Atrophy of the cortex of the cerebrum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging." ],
"synonyms" : [ {
@@ -148384,7 +149039,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decrease in size of the outer layer of the brain due to loss of brain cells",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:278849000"
@@ -148401,12 +149056,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0002143",
- "lbl" : "Abnormality of the spinal cord",
+ "lbl" : "Abnormal spinal cord morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of the spinal cord (myelon).",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "A structural abnormality of the spinal cord (myelon).",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148437,7 +149092,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased phosphate concentration in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -148446,7 +149101,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood phosphate level",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D017674"
@@ -148465,7 +149120,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated urine calcium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypercalcinuria"
@@ -148485,7 +149140,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of proteins in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:37064009"
@@ -148500,13 +149155,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased potassium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated serum potassium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006947"
@@ -148527,14 +149182,14 @@
"meta" : {
"definition" : {
"val" : "An elevated concentration of glycine in the blood.",
- "xrefs" : [ "HPO:gcarletti", "PMID:16902722", "PMID:4696900" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti", "PMID:16902722", "PMID:4696900" ]
},
"comments" : [ "Normal blood glycine levels are around 200-250 micromole per liter." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated blood glycine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperglycinaemia"
@@ -148552,7 +149207,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the level of triglycerides in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -148596,7 +149251,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of nitrogen compounds in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Abnormal levels of nitrogen-containing compounds, such as urea and creatinine." ],
"synonyms" : [ {
@@ -148618,14 +149273,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of lysine in the blood.",
- "xrefs" : [ "HPO:gcarletti", "PMID:4696900" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti", "PMID:4696900" ]
},
"comments" : [ "Normal blood lysine levels are around 180-200 micromole per liter." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elevated blood lysine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D020167"
@@ -148642,13 +149297,13 @@
"meta" : {
"definition" : {
"val" : "Progressive loss of neural cells and tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Ongoing loss of nerve cells",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Neuro-degenerative disease"
@@ -148683,7 +149338,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in artery of lung",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "MSH:D011655"
@@ -148705,7 +149360,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased facial hair growth",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C565029"
@@ -148720,7 +149375,7 @@
"meta" : {
"definition" : {
"val" : "Absence of axillary hair.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1859392"
@@ -148737,7 +149392,7 @@
"meta" : {
"definition" : {
"val" : "Hemorrhage affecting the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -148771,7 +149426,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased size of the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148800,7 +149455,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -148824,13 +149479,17 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0002244",
- "lbl" : "Abnormality of the small intestine",
+ "lbl" : "Abnormal small intestine morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of the small intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "A structural abnormality of the small intestine.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of the small intestine"
+ } ],
"xrefs" : [ {
"val" : "UMLS:C4025717"
} ]
@@ -148842,7 +149501,7 @@
"meta" : {
"definition" : {
"val" : "Meckel's diverticulum is a congenital diverticulum located in the distal ileum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MEDDRA:10027055"
@@ -148863,7 +149522,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the duodenum, i.e., the first section of the small intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -148881,7 +149540,7 @@
"meta" : {
"definition" : {
"val" : "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -148891,7 +149550,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Black feces",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D008551"
@@ -148918,7 +149577,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the large intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The large intestine comprises the cecum and colon." ],
"synonyms" : [ {
@@ -148937,7 +149596,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the autonomic nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness." ],
"xrefs" : [ {
@@ -148971,7 +149630,7 @@
"meta" : {
"definition" : {
"val" : "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Akinesia is a typical extrapyramidal abnormality." ],
"xrefs" : [ {
@@ -148987,13 +149646,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the brainstem.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of brainstem",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of brainstem morphology"
@@ -149012,7 +149671,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the brainstem.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding can be demonstrated by magnetic resonance imaging." ],
"synonyms" : [ {
@@ -149032,7 +149691,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped brainstem",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1842688"
@@ -149059,13 +149718,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased muscle movement",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -149116,7 +149775,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overactive lower leg reflex",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836696"
@@ -149171,13 +149830,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of midbrain",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of midbrain morphology"
@@ -149214,7 +149873,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of motor neuron",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025707"
@@ -149227,7 +149886,7 @@
"meta" : {
"definition" : {
"val" : "Reduced size of the cerebral cortex.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149251,14 +149910,14 @@
"meta" : {
"definition" : {
"val" : "The presence of calcium deposition within brain structures.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal deposits of calcium in the brain",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Brain calcification"
@@ -149295,7 +149954,7 @@
"meta" : {
"definition" : {
"val" : "Inability to elicit tendon reflexes in the lower limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149348,7 +150007,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the cerebral cortex.",
- "xrefs" : [ "HPO:probinson", "PMID:31373394" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:31373394" ]
},
"comments" : [ "The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement." ],
"synonyms" : [ {
@@ -149366,7 +150025,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the cerebral cortex.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149391,7 +150050,7 @@
"meta" : {
"definition" : {
"val" : "Absence of facial hair.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -149409,7 +150068,7 @@
"meta" : {
"definition" : {
"val" : "Developmental dysplasia of the hair.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -149436,7 +150095,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the nipple.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149469,7 +150128,7 @@
"meta" : {
"definition" : {
"val" : "Presence of more than two nipples.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -149479,7 +150138,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Increased nipple number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "accessory mamilla"
@@ -149542,7 +150201,7 @@
"meta" : {
"definition" : {
"val" : "Placement of the nipples at a lower than normal location.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -149561,7 +150220,7 @@
"meta" : {
"definition" : {
"val" : "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -149571,7 +150230,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Fat in feces",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Fatty stool"
@@ -149597,7 +150256,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the stomach.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine." ],
"synonyms" : [ {
@@ -149615,7 +150274,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -149634,7 +150293,7 @@
"meta" : {
"definition" : {
"val" : "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "MSH:D003092"
@@ -149651,7 +150310,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the peritoneum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs." ],
"xrefs" : [ {
@@ -149665,7 +150324,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the peritoneum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149690,7 +150349,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplasia of the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size." ],
"synonyms" : [ {
@@ -149700,7 +150359,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped pancreas",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:68591005"
@@ -149719,13 +150378,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the vasculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -149746,7 +150405,7 @@
"meta" : {
"definition" : {
"val" : "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain." ],
"synonyms" : [ {
@@ -149777,7 +150436,7 @@
"meta" : {
"definition" : {
"val" : "Low Blood Pressure, vascular hypotension.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -149809,13 +150468,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.",
- "xrefs" : [ "HPO:probinson", "PMID:30225143" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:30225143" ]
},
"comments" : [ "Aneurysm is considered a severe form of dilatation." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Aneurysmal dilatation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -149829,7 +150488,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Aneurysms",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -149856,13 +150515,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of vein.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal vein",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Venous abnormality"
@@ -149878,7 +150537,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the absorption of fat from the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:197494007"
@@ -149893,13 +150552,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of pelvic girdle bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of pelvic girdle bone morphology"
@@ -149918,14 +150577,14 @@
"meta" : {
"definition" : {
"val" : "A general term describing features characterized by abnormal development of bones and connective tissues.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormal skeletal development",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010009"
@@ -149965,7 +150624,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormal development of end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -149998,7 +150657,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation of end part of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1865200"
@@ -150016,8 +150675,8 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer." ],
"synonyms" : [ {
@@ -150044,7 +150703,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Oncology",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009369"
@@ -150074,7 +150733,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal narrowing of the foramen magnum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -150085,20 +150744,20 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Little foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Narrow foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypoplasia of foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Stenosis of foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:444879009"
@@ -150121,22 +150780,22 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranial vault",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the calvaria"
@@ -150147,12 +150806,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the skull cap",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the skullcap",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025691"
@@ -150172,55 +150831,55 @@
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Hypoplasia of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Underdevelopment of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Underdevelopment of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Flattening of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Flattening of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846438"
@@ -150241,12 +150900,12 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranial base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -150263,28 +150922,28 @@
"meta" : {
"definition" : {
"val" : "Increased bone density of the skull base without significant changes in bony contour.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Dense bone of skull base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperossification of skull base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of skull base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Marked sclerosis of skull base"
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerosis of cranial base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerosis of the skull base"
@@ -150295,12 +150954,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "HyperCalcification of skull base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "HyperMineralization of skull base",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1851714"
@@ -150321,7 +150980,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the foramen magnum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -150340,33 +150999,33 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the size of the foramen magnum.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Big foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dilation of foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Enlarged foramen magnum"
}, {
"pred" : "hasExactSynonym",
"val" : "Wide foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Increased circumference of foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Increased diameter of foramen magnum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844508"
@@ -150385,55 +151044,55 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the process of ossification of the skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The bones of the skull derive directly from mesenchyme cells by intramembranous ossification." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of skull bone formation",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of ossification of calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of ossification of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone calcification of calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone calcification of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone calcification of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone formation of calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone formation of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone mineralization of calvarium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone mineralization of cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of bone mineralization of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025686"
@@ -150447,8 +151106,8 @@
"val" : "UMLS:C4280553"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-28T11:53:00Z"
@@ -150461,7 +151120,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the immune system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages." ],
"synonyms" : [ {
@@ -150497,8 +151156,8 @@
"val" : "UMLS:C4025685"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-25T10:41:00Z"
@@ -150511,7 +151170,7 @@
"meta" : {
"definition" : {
"val" : "Increased susceptibility to infections.",
- "xrefs" : [ "HPO:probinson", "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-5316-1399" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -150541,7 +151200,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "infections, recurrent",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0239998"
@@ -150570,7 +151229,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased immune function",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Immune deficiency"
@@ -150597,7 +151256,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the lymph nodes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -150617,7 +151276,7 @@
"meta" : {
"definition" : {
"val" : "A structural lymph node abnormality.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -150643,14 +151302,14 @@
"meta" : {
"definition" : {
"val" : "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.",
- "xrefs" : [ "HPO:probinson", "PMID:15276398" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:15276398" ]
},
"comments" : [ "Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bone infection",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010019"
@@ -150678,13 +151337,13 @@
"meta" : {
"definition" : {
"val" : "Any morphological abnormality of cartilage.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of cartilage",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cartilage morphology"
@@ -150718,7 +151377,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the trachea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -150747,7 +151406,7 @@
"meta" : {
"definition" : {
"val" : "Calcification (abnormal deposits of calcium) in the tracheal tissues.",
- "xrefs" : [ "HPO:probinson", "PMID:18663210" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18663210" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -150773,7 +151432,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the rhythm or depth of breathing.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -150800,7 +151459,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal respiration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -150830,13 +151489,13 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of bones of the arms or legs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of limb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -150857,7 +151516,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the leg.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -150885,7 +151544,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the knee joint or surrounding structures.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -150904,7 +151563,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the arm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -150929,7 +151588,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of the structure of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The femur (plural: femora) is the thigh bone." ],
"synonyms" : [ {
@@ -150939,7 +151598,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021750"
@@ -150958,7 +151617,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long tailbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3277116"
@@ -150971,13 +151630,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of a lymph node.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of the lymph nodes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D008199"
@@ -150994,13 +151653,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of T cells.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal T cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of T cells"
@@ -151029,13 +151688,13 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of B cells.",
- "xrefs" : [ "HPO:probinson", "PMID:18725575" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18725575" ]
},
"comments" : [ "B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal B cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of B cells"
@@ -151051,7 +151710,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the ilium, the largest and uppermost bone of the pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -151072,7 +151731,7 @@
"meta" : {
"definition" : {
"val" : "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.",
- "xrefs" : [ "HPO:probinson", "eMedicine:986802" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "eMedicine:986802" ]
},
"comments" : [ "Hepatoblastoma occurs nearly exclusively in infants and children." ],
"xrefs" : [ {
@@ -151094,7 +151753,7 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -151104,7 +151763,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Liver tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -151153,13 +151812,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased potassium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood potassium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007008"
@@ -151178,7 +151837,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased calcium concentration in the blood.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -151187,7 +151846,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood calcium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006996"
@@ -151204,13 +151863,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased sodium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood sodium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007010"
@@ -151227,13 +151886,13 @@
"meta" : {
"definition" : {
"val" : "An increased amount of bilirubin in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood bilirubin levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:26165005"
@@ -151248,13 +151907,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased phosphate concentration in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood phosphate levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D054559"
@@ -151273,7 +151932,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of chromosome segregation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025670"
@@ -151286,7 +151945,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased magnesium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -151296,7 +151955,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood magnesium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:190855004"
@@ -151315,7 +151974,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased magnesium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -151325,7 +151984,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood magnesium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:66978005"
@@ -151340,7 +151999,7 @@
"meta" : {
"definition" : {
"val" : "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.",
- "xrefs" : [ "HPO:probinson", "PMID:11344564" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:11344564" ]
},
"comments" : [ "Acetone is the main component of the ketone bodies." ],
"synonyms" : [ {
@@ -151356,7 +152015,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Ketoaciduria",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D007662"
@@ -151375,7 +152034,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the cerebrospinal fluid (CSF).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain)." ],
"synonyms" : [ {
@@ -151401,7 +152060,7 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of protein in the cerebrospinal fluid.",
- "xrefs" : [ "KI:phemming", "PMID:29114301" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:KI_phemming", "PMID:29114301" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -151439,13 +152098,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal functionality of the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal thyroid function",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0857576"
@@ -151458,7 +152117,7 @@
"meta" : {
"definition" : {
"val" : "Decreased height of the intervertebral disk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination." ],
"synonyms" : [ {
@@ -151492,7 +152151,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lower arm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -151511,13 +152170,13 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of tissue in the central nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped central nervous system tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
@@ -151527,8 +152186,8 @@
"val" : "UMLS:C4025665"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-31T05:13:00Z"
@@ -151544,7 +152203,7 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature affecting a long bone of the leg.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -151580,7 +152239,7 @@
"meta" : {
"definition" : {
"val" : "Bowing (abnormal curvature) of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -151589,16 +152248,16 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Bowed femura",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Bowed femurs",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bowed thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859461"
@@ -151615,7 +152274,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the calf, i.e. of the posterior part of the lower leg.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -151633,7 +152292,7 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature of the tibia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A developmental defect with posteromedial tibial angulation." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -151641,12 +152300,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bowed shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bowed shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Bowed tibia"
@@ -151669,7 +152328,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormally small extremities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -151700,7 +152359,7 @@
"meta" : {
"definition" : {
"val" : "An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -151735,14 +152394,14 @@
"meta" : {
"definition" : {
"val" : "Absence of the fibula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent fibulae"
@@ -151767,14 +152426,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the calf bone (fibula), one of the two bones of the calf.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025664"
@@ -151787,18 +152446,18 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the tibia (shinbone).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the shankbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the shinbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025663"
@@ -151841,7 +152500,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality originating in one or more muscles, i.e., of the set of muscles of body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -151869,7 +152528,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the wrist, the structure connecting the hand and the forearm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -151896,7 +152555,7 @@
"meta" : {
"definition" : {
"val" : "One or more abnormally short long bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Long bones are also known as tubular bones." ],
"synonyms" : [ {
@@ -151963,12 +152622,15 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0003028",
- "lbl" : "Abnormality of the ankles",
+ "lbl" : "Abnormality of the ankle",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "An anomaly of the joint that connects the foot with the leg."
+ },
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
+ "synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the ankles"
} ],
@@ -151997,7 +152659,7 @@
"meta" : {
"definition" : {
"val" : "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152009,7 +152671,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased bone density in shaft of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D003966"
@@ -152032,7 +152694,7 @@
"meta" : {
"definition" : {
"val" : "Increase in size of one or more joints.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -152054,7 +152716,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the fibula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -152064,7 +152726,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short fibula"
@@ -152093,7 +152755,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -152112,7 +152774,7 @@
"meta" : {
"definition" : {
"val" : "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:202265005"
@@ -152127,14 +152789,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the patella (knee cap).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal kneecap",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the patella"
@@ -152168,13 +152830,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal increase in size of one or more metaphyses.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged wide portion of a long bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855544"
@@ -152191,7 +152853,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the humerus (i.e., upper arm bone).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152212,7 +152874,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the patella.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152221,7 +152883,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small kneecap",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Small patella"
@@ -152232,7 +152894,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped kneecap",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1840068"
@@ -152249,13 +152911,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal flatness (decreased height) of epiphyses.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flat end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat epiphyses"
@@ -152284,13 +152946,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased calcium concentration in the blood.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood calcium levels",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypercalcaemia"
@@ -152298,7 +152960,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased calcium in blood",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006934"
@@ -152308,6 +152970,10 @@
"val" : "SNOMEDCT_US:66931009"
}, {
"val" : "UMLS:C0020437"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
+ "val" : "HP:0008250"
} ]
}
}, {
@@ -152317,7 +152983,7 @@
"meta" : {
"definition" : {
"val" : "Reduction in the concentration of albumin in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -152346,17 +153012,17 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of glucose in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "High blood glucose",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood sugar",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006943"
@@ -152375,7 +153041,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of protein in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -152398,7 +153064,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of glucose in the urine.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis." ],
"synonyms" : [ {
@@ -152432,7 +153098,7 @@
"meta" : {
"definition" : {
"val" : "An elevated lipid concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL)." ],
"synonyms" : [ {
@@ -152463,7 +153129,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of potassium(1+) in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152488,7 +153154,7 @@
"meta" : {
"definition" : {
"val" : "Disproportionately long fibulae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -152498,7 +153164,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -152515,7 +153181,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152527,7 +153193,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small innermost thighbone end part",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Small proximal femoral epiphyses"
@@ -152535,7 +153201,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of the innermost thighbone end part",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1839254"
@@ -152558,7 +153224,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal shortening of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -152574,7 +153240,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:93255008"
@@ -152593,13 +153259,13 @@
"meta" : {
"definition" : {
"val" : "Relatively increased growth of the fibula compared to that of the tibia.",
- "xrefs" : [ "HPO:probinson", "PMID:17259417" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:17259417" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overgrowth of calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1864298"
@@ -152625,8 +153291,8 @@
"val" : "UMLS:C4025656"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T01:02:00Z"
@@ -152642,7 +153308,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of glycine in the urine.",
- "xrefs" : [ "HPO:gcarletti", "PMID:18901181", "PMID:20240447" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti", "PMID:18901181", "PMID:20240447" ]
},
"comments" : [ "Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours." ],
"synonyms" : [ {
@@ -152652,7 +153318,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine glycine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C563009"
@@ -152675,13 +153341,13 @@
"meta" : {
"definition" : {
"val" : "An increased excretion of phosphates in the urine.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine phosphate levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Phosphaturia"
@@ -152705,7 +153371,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the composition of urine or the levels of its components.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -152734,7 +153400,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the homeostasis (concentration) of a monoatomic ion.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152766,7 +153432,7 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152787,7 +153453,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of a hormone in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -152808,7 +153474,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a lipid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids." ],
"synonyms" : [ {
@@ -152840,7 +153506,7 @@
"meta" : {
"definition" : {
"val" : "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -152865,7 +153531,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of cholesterol in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -152913,13 +153579,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased calcium concentration in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low urine calcium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:86353007"
@@ -152934,7 +153600,7 @@
"meta" : {
"definition" : {
"val" : "An increased amount of nitrogen in the form of urea in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -152956,13 +153622,13 @@
"meta" : {
"definition" : {
"val" : "An decreased concentration of cholesterol in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased circulating cholesterol level",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:61336008"
@@ -152977,17 +153643,17 @@
"meta" : {
"definition" : {
"val" : "Increased excretion of oxalates in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine oxalate levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased level of oxalate in urine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-9969-8610", "PMID:11135054" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-9969-8610", "PMID:11135054" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006959"
@@ -153004,7 +153670,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -153014,7 +153680,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the hipbone socket",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Acetabular abnormality"
@@ -153030,7 +153696,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -153057,7 +153723,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -153077,7 +153743,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the ischium, which forms the lower and back part of the hip bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The ischium, together with the ilium and the pubis, forms the hip bone (os coxae)." ],
"synonyms" : [ {
@@ -153100,7 +153766,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the ischium, which forms the lower and back part of the hip bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -153124,7 +153790,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the breast.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -153154,27 +153820,27 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elongated nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased height of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased length of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased nasal height",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased nasal length",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -153183,7 +153849,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Nasal elongation",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1839798"
@@ -153203,7 +153869,7 @@
"meta" : {
"definition" : {
"val" : "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.",
- "xrefs" : [ "HPO:probinson", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152422" ]
},
"comments" : [ "Note: a small nose has both decreased height and a decreased width. These should be coded separately." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -153211,7 +153877,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic nose"
@@ -153226,7 +153892,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shortened nose",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -153287,7 +153953,7 @@
"meta" : {
"definition" : {
"val" : "The presence of skeletal muscular atrophy (which is also known as amyotrophy).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -153305,7 +153971,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Muscle hypotrophy"
@@ -153381,15 +154047,15 @@
"meta" : {
"definition" : {
"val" : "Pathological deposition of calcium salts in one or more arteries.",
- "xrefs" : [ "HPO:probinson", "PMID:18519861" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18519861" ]
},
"comments" : [ "Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861)." ],
"xrefs" : [ {
"val" : "UMLS:C1168153"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:05:00Z"
@@ -153405,7 +154071,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of dicarboxylic acid in the urine.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "A dicarboxylic acid is an oxoacid containing two carboxy groups. Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine." ],
"synonyms" : [ {
@@ -153427,7 +154093,7 @@
"meta" : {
"definition" : {
"val" : "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -153448,13 +154114,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased sodium concentration in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood sodium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006955"
@@ -153473,14 +154139,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of tyrosine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Defect in fumarylacetoacetase." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased tyrosine in blood",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Tyrosinemia"
@@ -153498,7 +154164,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of carnitine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria." ],
"synonyms" : [ {
@@ -153523,14 +154189,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of methionine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Elevated blood methionine levels in the range of 500-2000 micromolar." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased methionine in blood",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Methioninemia"
@@ -153554,7 +154220,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of part or all of the external reproductive organs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism." ],
"synonyms" : [ {
@@ -153601,7 +154267,7 @@
"meta" : {
"definition" : {
"val" : "Aplasia of the vagina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -153636,14 +154302,14 @@
"meta" : {
"definition" : {
"val" : "A increased concentration of arginine in the urine.",
- "xrefs" : [ "HPO:probinson", "PMID:18901181", "PMID:20240447" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18901181", "PMID:20240447" ]
},
"comments" : [ "Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine arginine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025635"
@@ -153656,7 +154322,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal increased size of the viscera of the abdomen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas." ],
"xrefs" : [ {
@@ -153672,7 +154338,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hip bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle." ],
"synonyms" : [ {
@@ -153693,6 +154359,10 @@
"lbl" : "Hip contracture",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.",
+ "xrefs" : [ "PMID:16214063", "PMID:24975760", "PMID:31282072" ]
+ },
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Flexion contracture of hips"
@@ -153719,7 +154389,7 @@
"meta" : {
"definition" : {
"val" : "Underdeveloped acetabulae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -153740,7 +154410,7 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of mitochondria.",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -153757,14 +154427,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of lysine in the urine.",
- "xrefs" : [ "HPO:probinson", "PMID:18901181", "PMID:20240447" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18901181", "PMID:20240447" ]
},
"comments" : [ "Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine lysine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Lysinuria"
@@ -153815,7 +154485,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the cervical vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -153841,7 +154511,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Cervical vertebral anomalies",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1852464"
@@ -153871,7 +154541,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly in the composite material or the layered arrangement of the bony skeleton.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025630"
@@ -153884,7 +154554,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy." ],
"xrefs" : [ {
@@ -153902,13 +154572,13 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of an amino acid in the urine.",
- "xrefs" : [ "HPO:SKOEHLER" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine amino acid levels",
- "xrefs" : [ "orcid.org/0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperaminoaciduria"
@@ -153916,7 +154586,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased levels of animo acids in urine",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -153947,7 +154617,7 @@
"meta" : {
"definition" : {
"val" : "Decreased concentration of sulfate in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -153971,7 +154641,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal neck or head of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the femoral neck or head region"
@@ -153987,13 +154657,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal neck of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the femoral neck"
@@ -154009,13 +154679,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the femoral head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal head of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the femoral head"
@@ -154031,7 +154701,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal flattening of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154040,7 +154710,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flat end part of innermost thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat femoral capital epiphyses"
@@ -154066,7 +154736,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal enlargement of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154075,7 +154745,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of innermost thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859697"
@@ -154088,7 +154758,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025617"
@@ -154101,7 +154771,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality related to a defect of vertebral separation during development.",
- "xrefs" : [ "HPO:probinson", "PMID:23653580", "PMID:23801490" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23653580", "PMID:23801490" ]
},
"comments" : [ "The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -154137,7 +154807,7 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of long-chain fatty acids in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes." ],
"synonyms" : [ {
@@ -154168,7 +154838,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of one or more of the vertebrae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone)." ],
"synonyms" : [ {
@@ -154186,7 +154856,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Multiple vertebral anomalies",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4108"
@@ -154213,7 +154883,7 @@
"meta" : {
"definition" : {
"val" : "A kind of short stature in which different regions of the body are shortened to differing extents.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154221,7 +154891,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Short stature, severe disproportionate",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0878659"
@@ -154243,7 +154913,7 @@
"meta" : {
"definition" : {
"val" : "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -154279,7 +154949,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in methionine synthase activity.",
- "xrefs" : [ "HPO:probins" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine." ],
"synonyms" : [ {
@@ -154321,7 +154991,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of ornithine in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025602"
@@ -154334,7 +155004,7 @@
"meta" : {
"definition" : {
"val" : "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025598"
@@ -154347,7 +155017,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of pyruvate in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." ],
"synonyms" : [ {
@@ -154365,7 +155035,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025596"
@@ -154378,13 +155048,13 @@
"meta" : {
"definition" : {
"val" : "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.",
- "xrefs" : [ "HPO:probinson", "Neuromics:vstraub" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9046-3540", "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Muscular dystrophy can be demonstrated by muscle biopsy." ],
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Muscle biopsy shows dystrophic changes",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009136"
@@ -154412,7 +155082,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of citrulline in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "UMLS:C1839532"
@@ -154425,7 +155095,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased sodium concentration in the cytosol.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154445,14 +155115,14 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of trimethylamine in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine trimethylamine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C536561"
@@ -154469,14 +155139,14 @@
"meta" : {
"definition" : {
"val" : "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of fat tissue below the skin in limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Loss of subcutaneous adipose tissue from extremities"
@@ -154496,7 +155166,7 @@
"meta" : {
"definition" : {
"val" : "The presence of free hemoglobin in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine." ],
"synonyms" : [ {
@@ -154507,7 +155177,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Hemoglobin in urine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D006456"
@@ -154524,7 +155194,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased concentration of hydrogencarbonate in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154545,7 +155215,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of methionine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Normal methionine blood levels are around 30 micromole per liter." ],
"synonyms" : [ {
@@ -154568,14 +155238,14 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting the muscles of the pelvis.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025581"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T10:57:00Z"
@@ -154588,7 +155258,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting muscles in the distal portions of the extremities.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution)." ],
"synonyms" : [ {
@@ -154609,7 +155279,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Distal muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -154666,30 +155336,30 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025577"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-22T01:37:43Z"
@@ -154702,7 +155372,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal increase in muscle size and mass not due to training.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically." ],
"synonyms" : [ {
@@ -154712,7 +155382,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased skeletal muscle cells",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Muscle hypertrophy"
@@ -154737,7 +155407,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Minimal fat below the skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859442"
@@ -154750,7 +155420,7 @@
"meta" : {
"definition" : {
"val" : "Amyotrophy affecting the muscles of the shoulder girdle.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -154775,14 +155445,14 @@
"meta" : {
"definition" : {
"val" : "Muscle hypertrophy affecting the thighs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Proximal lower limb hypertrophy" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased thigh size",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846674"
@@ -154806,7 +155476,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Reduced fat tissue below the skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Reduced subcutaneous fat"
@@ -154836,14 +155506,14 @@
"meta" : {
"definition" : {
"val" : "Congenital underdevelopment of lymph vessels.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be demonstrated by lymphography." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped lymphatic vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025570"
@@ -154856,16 +155526,16 @@
"meta" : {
"definition" : {
"val" : "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:31468724" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Pulp calcifications",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Pulp denticles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -154876,19 +155546,19 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "False denticles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "False pulp stones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "True denticles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "True pulp stones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D003784"
@@ -154909,13 +155579,13 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia (shortening) of middle phalanx of toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bones (feet)",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short middle phalanges of toes"
@@ -154931,7 +155601,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting the muscles of the limb girdle.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasBroadSynonym",
@@ -154940,7 +155610,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wasting of limb-girdle muscle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1404521"
@@ -154957,7 +155627,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of end part of upper limb long bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality involving the epiphyses of the upper limbs"
@@ -154980,13 +155650,13 @@
"meta" : {
"definition" : {
"val" : "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation fo the end part of the upper limb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025560"
@@ -155003,7 +155673,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Round end part of upper limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025557"
@@ -155018,7 +155688,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of upper limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025556"
@@ -155031,13 +155701,13 @@
"meta" : {
"definition" : {
"val" : "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased bone density in central part of long bone of upper limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025547"
@@ -155050,13 +155720,13 @@
"meta" : {
"definition" : {
"val" : "Clefting affecting the humerus.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025545"
@@ -155069,14 +155739,14 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bowed long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Bowing of the humerus"
@@ -155097,7 +155767,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Deformed long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025539"
@@ -155132,13 +155802,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the humeral epiphysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of the long bone of the upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the humeral epiphyses"
@@ -155154,14 +155824,14 @@
"meta" : {
"definition" : {
"val" : "Lack of formation of bone in the epiphysis of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent maturation of end part of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent ossification of the humeral epiphyses"
@@ -155177,7 +155847,7 @@
"meta" : {
"definition" : {
"val" : "A delay in the process of formation and maturation of the humeral epiphysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -155186,7 +155856,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation of the end part of the long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021712"
@@ -155203,7 +155873,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flattened end part of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025525"
@@ -155218,7 +155888,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Irregular maturation of the end part of the long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025523"
@@ -155235,7 +155905,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large end part of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025522"
@@ -155250,7 +155920,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Round end part of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025521"
@@ -155265,7 +155935,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025520"
@@ -155283,7 +155953,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the wide portion of the long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025517"
@@ -155298,7 +155968,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Irregular bone maturation of the wide portion of the long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025513"
@@ -155313,12 +155983,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Hardening of wide portion of long bone of upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Stiffening of wide portion of long bone of upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025509"
@@ -155331,13 +156001,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the humeral diaphysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of shaft of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the humeral diaphysis"
@@ -155355,7 +156025,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased bone density in shaft of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025496"
@@ -155384,7 +156054,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of the elbow bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025488"
@@ -155397,13 +156067,13 @@
"meta" : {
"definition" : {
"val" : "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Delayed maturation of the end part of the elbow bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025487"
@@ -155418,7 +156088,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal wide portion of elbow bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025485"
@@ -155431,7 +156101,7 @@
"meta" : {
"definition" : {
"val" : "Absence of one or more forearm bones associated with congenital failure of development.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -155452,7 +156122,7 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature affecting either the radius, the ulna, or both.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -155517,7 +156187,7 @@
"meta" : {
"definition" : {
"val" : "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -155554,7 +156224,7 @@
"meta" : {
"definition" : {
"val" : "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -155596,7 +156266,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Finger overgrowth",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Megalodactyly"
@@ -155618,16 +156288,16 @@
"meta" : {
"definition" : {
"val" : "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Central defect of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Central nasal defect",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -155635,17 +156305,17 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Midline nasal defect",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Central cleft of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Midline cleft of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025411"
@@ -155653,8 +156323,8 @@
"val" : "UMLS:C4280539"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-21T04:59:54Z"
@@ -155670,7 +156340,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality affecting one or both 5th fingers.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -155683,12 +156353,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021678"
@@ -155701,13 +156371,13 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the phalanges of the 5th (little) finger.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the phalanges of the 5th finger"
@@ -155715,12 +156385,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025408"
@@ -155733,23 +156403,23 @@
"meta" : {
"definition" : {
"val" : "Curved phalanges of the 5th (little) finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025407"
@@ -155764,17 +156434,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025406"
@@ -155787,7 +156457,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic/small middle phalanx of the fifth finger.",
- "xrefs" : [ "HPO:skoehler", "PMID:18494372" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399", "PMID:18494372" ]
},
"comments" : [ "Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3)." ],
"synonyms" : [ {
@@ -155818,17 +156488,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of the little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short middle phalanx of the little finger"
@@ -155869,23 +156539,23 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of middle little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of middle pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of middle pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025405"
@@ -155898,7 +156568,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the distal phalanx of the 5th (little) finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -155907,17 +156577,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the terminal phalanx of the little finger"
@@ -155933,23 +156603,23 @@
"meta" : {
"definition" : {
"val" : "Curved appearance of the distal phalanx of the 5th (little) finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved terminal phalanx of the little finger"
@@ -155965,7 +156635,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic/small distal phalanx of the fifth finger.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -155983,17 +156653,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836674"
@@ -156010,13 +156680,13 @@
"meta" : {
"definition" : {
"val" : "The presence of more than the normal number of carpal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Extra wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary carpal bones"
@@ -156036,14 +156706,14 @@
"meta" : {
"definition" : {
"val" : "Increased size of carpal bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Large wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Large carpals"
@@ -156061,7 +156731,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Deficient maturation of hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025376"
@@ -156092,7 +156762,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Irregular maturation of hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025374"
@@ -156114,7 +156784,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the gastric mucous membrane.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -156123,14 +156793,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the mucous membrane layer of stomach",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025362"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T11:12:00Z"
@@ -156145,7 +156815,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of GI blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
@@ -156158,8 +156828,8 @@
"val" : "UMLS:C4025361"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T11:24:00Z"
@@ -156172,14 +156842,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the biliary system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C0940767"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T11:34:00Z"
@@ -156192,7 +156862,7 @@
"meta" : {
"definition" : {
"val" : "The presence of any abnormality affecting the abdominal wall.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -156207,8 +156877,8 @@
"val" : "UMLS:C4021664"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T11:40:00Z"
@@ -156224,7 +156894,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.",
- "xrefs" : [ "HPO:probinson", "PMID:22938878" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:22938878" ]
},
"comments" : [ "Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products." ],
"synonyms" : [ {
@@ -156250,8 +156920,8 @@
"val" : "UMLS:C4021663"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T12:04:00Z"
@@ -156270,7 +156940,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the endocardium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -156283,8 +156953,8 @@
"val" : "UMLS:C4021662"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T01:23:00Z"
@@ -156305,8 +156975,8 @@
"val" : "UMLS:C4025359"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T01:23:00Z"
@@ -156319,7 +156989,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of macrophages.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -156332,8 +157002,8 @@
"val" : "UMLS:C4021661"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T03:14:00Z"
@@ -156349,7 +157019,7 @@
"meta" : {
"definition" : {
"val" : "A reticulocyte abnormality.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining." ],
"synonyms" : [ {
@@ -156360,8 +157030,8 @@
"val" : "UMLS:C4025358"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T03:19:00Z"
@@ -156374,7 +157044,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased level of immunoglobulin in blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM." ],
"synonyms" : [ {
@@ -156406,8 +157076,8 @@
"val" : "UMLS:C4048270"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-20T03:34:00Z"
@@ -156423,7 +157093,7 @@
"meta" : {
"definition" : {
"val" : "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -156450,8 +157120,8 @@
"val" : "UMLS:C0349588"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T03:19:00Z"
@@ -156494,7 +157164,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -156510,8 +157180,8 @@
"val" : "UMLS:C4025357"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T03:21:00Z"
@@ -156549,8 +157219,8 @@
"val" : "UMLS:C0043094"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T03:21:00Z"
@@ -156608,8 +157278,8 @@
"val" : "UMLS:C1844806"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T03:22:00Z"
@@ -156628,13 +157298,13 @@
"meta" : {
"definition" : {
"val" : "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wasting syndrome",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D002100"
@@ -156646,8 +157316,8 @@
"val" : "UMLS:C0006625"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T03:23:00Z"
@@ -156660,7 +157330,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the vitreous body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The vitreous humor is the clear gel that fills the space between the lens and the retina." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -156673,8 +157343,8 @@
"val" : "UMLS:C4025356"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T04:20:00Z"
@@ -156687,7 +157357,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens." ],
"synonyms" : [ {
@@ -156707,8 +157377,8 @@
"val" : "UMLS:C4025355"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T04:23:00Z"
@@ -156737,8 +157407,8 @@
"val" : "UMLS:C4025354"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-27T04:25:00Z"
@@ -156751,35 +157421,35 @@
"meta" : {
"definition" : {
"val" : "An increase in the magnitude or amount of ossification of the skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Hyperossification of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerosis of bones of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerosis of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Increased Mineralization of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Increased calcification of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:17401000119104"
@@ -156791,8 +157461,8 @@
"val" : "UMLS:C4072851"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-28T11:54:00Z"
@@ -156805,7 +157475,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in the magnitude or amount of ossification of the skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -156819,18 +157489,18 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoossification of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Ossification defect of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Poorly mineralized skull"
}, {
"pred" : "hasExactSynonym",
"val" : "Poorly ossified skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Poorly ossified skull bones"
@@ -156838,12 +157508,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Decreased calcification of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Decreased mineralization of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:253980008"
@@ -156853,8 +157523,8 @@
"val" : "UMLS:C4280533"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-28T11:54:00Z"
@@ -156870,7 +157540,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of lymphocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage." ],
"synonyms" : [ {
@@ -156886,8 +157556,8 @@
"val" : "UMLS:C0427546"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-02-28T06:46:00Z"
@@ -156906,7 +157576,7 @@
"meta" : {
"definition" : {
"val" : "Partial or complete wasting (atrophy) of the skin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -156919,7 +157589,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Skin degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MEDDRA:10040799"
@@ -156931,8 +157601,8 @@
"val" : "UMLS:C0151514"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-04T06:24:00Z"
@@ -156951,7 +157621,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of an amino acid metabolic process.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -156961,8 +157631,8 @@
"val" : "UMLS:C1328440"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-08T07:53:00Z"
@@ -156975,7 +157645,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -156985,8 +157655,8 @@
"val" : "UMLS:C4025352"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-08T07:55:00Z"
@@ -156999,7 +157669,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Cysteine and methionine contain a sulfur atom." ],
"synonyms" : [ {
@@ -157014,8 +157684,8 @@
"val" : "UMLS:C4021660"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-08T08:01:00Z"
@@ -157034,8 +157704,8 @@
"val" : "UMLS:C4021659"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-08T08:08:00Z"
@@ -157054,8 +157724,8 @@
"val" : "UMLS:C4021658"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-08T08:09:00Z"
@@ -157068,7 +157738,7 @@
"meta" : {
"definition" : {
"val" : "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -157078,8 +157748,8 @@
"val" : "UMLS:C4021657"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-11T08:10:00Z"
@@ -157092,12 +157762,12 @@
"meta" : {
"definition" : {
"val" : "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Decreased bone mineral density",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased bone mineral density Z score"
@@ -157111,8 +157781,8 @@
"val" : "UMLS:C2674432"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-11T08:10:00Z"
@@ -157135,8 +157805,8 @@
"val" : "UMLS:C4025346"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T01:04:00Z"
@@ -157149,15 +157819,15 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a carboxylic acid in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH)." ],
"xrefs" : [ {
"val" : "UMLS:C4025344"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T01:11:00Z"
@@ -157173,8 +157843,8 @@
"val" : "UMLS:C4025342"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T02:40:00Z"
@@ -157187,14 +157857,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal circulation of leucine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025341"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T03:02:00Z"
@@ -157207,7 +157877,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal concentration of a fatty acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids." ],
"synonyms" : [ {
@@ -157223,8 +157893,8 @@
"val" : "UMLS:C4021656"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T03:28:00Z"
@@ -157237,7 +157907,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -157249,8 +157919,8 @@
"val" : "UMLS:C0001118"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T03:35:00Z"
@@ -157263,7 +157933,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of calcium in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -157273,7 +157943,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal blood calcium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
@@ -157286,8 +157956,8 @@
"xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T04:15:00Z"
@@ -157303,15 +157973,15 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a nitrogen compound in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine." ],
"xrefs" : [ {
"val" : "UMLS:C4025336"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T04:51:00Z"
@@ -157324,14 +157994,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of glycolysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025334"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-17T05:00:00Z"
@@ -157357,8 +158027,8 @@
"val" : "UMLS:C4025332"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T06:31:00Z"
@@ -157384,8 +158054,8 @@
"val" : "UMLS:C4025331"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T06:32:00Z"
@@ -157398,7 +158068,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of temperature homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -157421,8 +158091,8 @@
"val" : "UMLS:C1832160"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T06:34:00Z"
@@ -157435,15 +158105,15 @@
"meta" : {
"definition" : {
"val" : "Abnormality of glycosaminoglycan metabolism.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan." ],
"xrefs" : [ {
"val" : "UMLS:C4025330"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T06:36:00Z"
@@ -157456,7 +158126,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the anal canal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The anal canal is continuous proximally with the rectum and distally terminates with the anus." ],
"synonyms" : [ {
@@ -157468,8 +158138,8 @@
"val" : "UMLS:C4025329"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T08:11:00Z"
@@ -157482,7 +158152,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal calcification of the mitral valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:473372009"
@@ -157490,8 +158160,8 @@
"val" : "UMLS:C0919718"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T08:55:00Z"
@@ -157510,7 +158180,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.",
- "xrefs" : [ "HPO:probinson", "PMID:22192721" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:22192721" ]
},
"comments" : [ "Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes." ],
"synonyms" : [ {
@@ -157523,7 +158193,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped left heart",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D018636"
@@ -157533,8 +158203,8 @@
"val" : "UMLS:C0152101"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T08:56:00Z"
@@ -157561,8 +158231,8 @@
"val" : "UMLS:C1535950"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:01:00Z"
@@ -157580,7 +158250,7 @@
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Microcolon on contrast enema",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:C562563"
@@ -157592,8 +158262,8 @@
"val" : "UMLS:C3553395"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:02:00Z"
@@ -157614,8 +158284,8 @@
"val" : "UMLS:C0236048"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:11:00Z"
@@ -157628,14 +158298,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pylorus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025326"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:15:00Z"
@@ -157648,7 +158318,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nipple.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -157662,8 +158332,8 @@
"val" : "UMLS:C3839073"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:18:00Z"
@@ -157682,7 +158352,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal sense of smell",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of olfaction"
@@ -157699,8 +158369,8 @@
"val" : "UMLS:C4021655"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:21:00Z"
@@ -157716,13 +158386,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pulmonary artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of lung artery",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:128588008"
@@ -157734,8 +158404,8 @@
"val" : "UMLS:C0009681"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:28:00Z"
@@ -157748,13 +158418,13 @@
"meta" : {
"definition" : {
"val" : "The formation of a blood clot inside an artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in artery",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:65198009"
@@ -157762,8 +158432,8 @@
"val" : "UMLS:C0151942"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:32:00Z"
@@ -157776,7 +158446,7 @@
"meta" : {
"definition" : {
"val" : "A forehead with abnormal flatness.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -157789,14 +158459,14 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Frontal flattening",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1857485"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:41:00Z"
@@ -157821,7 +158491,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the cheeks",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
@@ -157830,19 +158500,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the cheeks",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025324"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:42:00Z"
@@ -157855,43 +158525,43 @@
"meta" : {
"definition" : {
"val" : "Excessive growth of the bones of cranium, i.e., of the skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Enlargement of skull bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Excessive growth of skull bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Hypertrophy of cranial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Overgrowth of skull bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Thick skull bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of cranial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of cranial vault"
}, {
"pred" : "hasExactSynonym",
"val" : "Increased ossification of cranial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1832451"
@@ -157905,8 +158575,8 @@
"val" : "UMLS:C4280531"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T09:57:00Z"
@@ -157922,7 +158592,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormally shaped erythrocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "General description for abnormally shaped erythrocytes." ],
"xrefs" : [ {
@@ -157931,8 +158601,8 @@
"val" : "UMLS:C0221281"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-18T10:06:00Z"
@@ -157945,7 +158615,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -157970,7 +158640,7 @@
"meta" : {
"definition" : {
"val" : "The progressive development of an abnormally large skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -157979,12 +158649,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressively abnormally enlarging cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressively abnormally enlarging skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859896"
@@ -158001,42 +158671,42 @@
"meta" : {
"definition" : {
"val" : "Excessive growth of the calvaria.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw." ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Enlargement of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Excessive growth of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Hypertrophy of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Overgrowth of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Thick calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased ossification of calvarial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overgrowth of skullcap",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:C537963"
@@ -158055,46 +158725,46 @@
"meta" : {
"definition" : {
"val" : "Excessive growth of the craniofacial bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Enlargement of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Excessive growth of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Hypertrophy of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Overgrowth of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Thick craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Excessive bone growth of the skull and face",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperostosis of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased ossification of craniofacial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1868085"
@@ -158113,7 +158783,7 @@
"meta" : {
"definition" : {
"val" : "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin)." ],
"synonyms" : [ {
@@ -158150,7 +158820,7 @@
"meta" : {
"definition" : {
"val" : "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158171,42 +158841,42 @@
"meta" : {
"definition" : {
"val" : "Increased bone density affecting the bones of the spine (vertebral column).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased density of spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Ivory spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Compact spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Concrete spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Dense spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Eburnation of spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Increased spinal bone density Z-score"
}, {
"pred" : "hasRelatedSynonym",
"val" : "Sclerosis of spinal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4020828"
@@ -158227,7 +158897,7 @@
"meta" : {
"definition" : {
"val" : "Increased top to bottom height of vertebral bodies.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158257,7 +158927,7 @@
"meta" : {
"definition" : {
"val" : "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -158309,7 +158979,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small sacrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1970816"
@@ -158331,7 +159001,7 @@
"meta" : {
"definition" : {
"val" : "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1862428"
@@ -158353,7 +159023,7 @@
"meta" : {
"definition" : {
"val" : "A lack of ossification of the vertebral bodies.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1860202"
@@ -158370,7 +159040,7 @@
"meta" : {
"definition" : {
"val" : "Reduced size of cervical vertebrae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158391,36 +159061,36 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Deficiency of facial musculature",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Atrophy of facial musculature",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic facial musculature",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1834042"
@@ -158441,7 +159111,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large ankle bones",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859116"
@@ -158454,7 +159124,7 @@
"meta" : {
"definition" : {
"val" : "Decrease in mass and density of the metatarsal bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1836873"
@@ -158467,7 +159137,7 @@
"meta" : {
"definition" : {
"val" : "Short (hypoplastic) fifth metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158476,7 +159146,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short 5th long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021649"
@@ -158496,7 +159166,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the renal collecting system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158528,17 +159198,17 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Heart right ventricle hypoplasia",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small right heart chamber",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped right heart chamber",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "Fyler:1821"
@@ -158557,13 +159227,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the small intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped small intestine",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025291"
@@ -158576,7 +159246,7 @@
"meta" : {
"definition" : {
"val" : "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C2675920"
@@ -158589,7 +159259,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally elevated blood pressure in the circulation of the pulmonary artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158598,7 +159268,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "increased pulmonary artery pressure",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3805917"
@@ -158636,7 +159306,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of magnesium ion homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -158666,7 +159336,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of L-phenylalanine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D010661"
@@ -158685,14 +159355,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the lung blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025271"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:07:00Z"
@@ -158705,7 +159375,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal calcification of the vasculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D061205"
@@ -158722,13 +159392,13 @@
"meta" : {
"definition" : {
"val" : "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in vein",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "MSH:D020246"
@@ -158745,7 +159415,7 @@
"meta" : {
"definition" : {
"val" : "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -158767,18 +159437,18 @@
"meta" : {
"definition" : {
"val" : "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.",
- "xrefs" : [ "HPO:probinson", "PMID:17192541" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:17192541" ]
},
"comments" : [ "This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent lung artery",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Missing pulmonary artery",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:86252004"
@@ -158793,7 +159463,7 @@
"meta" : {
"definition" : {
"val" : "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1969292"
@@ -158806,7 +159476,7 @@
"meta" : {
"definition" : {
"val" : "Calcification, that is, pathological deposition of calcium salts in the aorta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that the phrase \"aortic calcification\" is mainly used to describe calcification of the aortic valve rather than of the aorta itself." ],
"xrefs" : [ {
@@ -158820,17 +159490,17 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the pulmonary artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Underdeveloped lung artery",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped pulmonary artery",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "Fyler:2966"
@@ -158847,13 +159517,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased density of metaphyseal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Increased bone density in wide portion of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerotic metaphyses"
@@ -158878,18 +159548,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small end part of innermost thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped end part of innermost thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025261"
@@ -158902,13 +159572,13 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia (shortening) of all phalanges of the foot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025257"
@@ -158921,13 +159591,13 @@
"meta" : {
"definition" : {
"val" : "Overgrowth of the proximal part of the fibula.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overgrowth of innermost part of calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2673395"
@@ -158940,7 +159610,7 @@
"meta" : {
"definition" : {
"val" : "Deterioration or loss of the tissues of the cochlea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158950,8 +159620,8 @@
"val" : "UMLS:C1849095"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-25T05:06:00Z"
@@ -158967,7 +159637,7 @@
"meta" : {
"definition" : {
"val" : "Ossification affecting the external ear cartilage.",
- "xrefs" : [ "HPO:probinson", "PMID:15523361", "PMID:23259082" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:15523361", "PMID:23259082" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -158986,8 +159656,8 @@
"val" : "UMLS:C1408806"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-25T05:09:00Z"
@@ -159003,39 +159673,39 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the nasal septum.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861328"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
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@@ -159050,21 +159720,21 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal nose morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal of morphology of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal of nasal shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal of shape of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4870"
@@ -159072,8 +159742,8 @@
"val" : "UMLS:C4025252"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-25T05:21:00Z"
@@ -159086,7 +159756,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the sacral bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -159098,8 +159768,8 @@
"val" : "UMLS:C4025250"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-25T06:03:00Z"
@@ -159112,7 +159782,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the intervertebral disk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -159128,8 +159798,8 @@
"val" : "UMLS:C4025249"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-25T06:05:00Z"
@@ -159142,7 +159812,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of a cardiac atrium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159151,14 +159821,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of heart atrium",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025246"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:12:00Z"
@@ -159171,7 +159841,7 @@
"meta" : {
"definition" : {
"val" : "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.",
- "xrefs" : [ "DDD:dbrown" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"comments" : [ "The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients." ],
"synonyms" : [ {
@@ -159195,7 +159865,7 @@
"meta" : {
"definition" : {
"val" : "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.",
- "xrefs" : [ "HPO:probinson", "PMID:23587525" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23587525" ]
},
"comments" : [ "MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual." ],
"synonyms" : [ {
@@ -159213,7 +159883,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal calcification of a cardiac valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159338,7 +160008,7 @@
"meta" : {
"definition" : {
"val" : "Absence of the abdominal musculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159355,13 +160025,13 @@
"meta" : {
"definition" : {
"val" : "Hypertrophy of the stomach.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Increased stomach size",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1834341"
@@ -159376,7 +160046,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the colon.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159384,7 +160054,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped colon",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1392839"
@@ -159397,7 +160067,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormal calcium deposition lesions in the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
@@ -159424,7 +160094,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture." ],
"xrefs" : [ {
@@ -159438,7 +160108,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a hypoplastic gallbladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159457,7 +160127,7 @@
"meta" : {
"definition" : {
"val" : "The presence of degenerative changes of the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025230"
@@ -159470,7 +160140,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159479,7 +160149,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped instestine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021640"
@@ -159492,7 +160162,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the abdominal musculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159533,8 +160203,8 @@
"val" : "UMLS:C4025225"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:27:00Z"
@@ -159547,14 +160217,14 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation of the gastric mucous membrane.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Stomach inflammation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MEDDRA:10017853"
@@ -159566,8 +160236,8 @@
"val" : "UMLS:C0017152"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:32:00Z"
@@ -159580,7 +160250,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the gallbladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -159598,8 +160268,8 @@
"val" : "UMLS:C0266249"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:40:00Z"
@@ -159612,7 +160282,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the jejunum, i.e., of the middle section of the small intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159622,8 +160292,8 @@
"val" : "UMLS:C4025224"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:44:00Z"
@@ -159636,7 +160306,7 @@
"meta" : {
"definition" : {
"val" : "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -159650,8 +160320,8 @@
"val" : "UMLS:C0021846"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T04:46:00Z"
@@ -159664,7 +160334,7 @@
"meta" : {
"definition" : {
"val" : "Lack of the cartilage of the nasal septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -159678,12 +160348,12 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Ageneis of nasal septal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Failure of development of nasal septal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021638"
@@ -159699,7 +160369,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Cartilaginous nasal ossification",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855616"
@@ -159714,53 +160384,53 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Aplasia of nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Deficient nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic nasal tip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic tip of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844731"
@@ -159777,7 +160447,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the nostril.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -159793,32 +160463,32 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of the nares",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nares",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nostrils",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nares",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nostrils",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021637"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T06:04:00Z"
@@ -159833,25 +160503,25 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of internal carotid artery",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small internal carotid artery",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Aplasia of internal carotid artery",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Deficiency of internal carotid artery",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic internal carotid artery",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855736"
@@ -159870,7 +160540,7 @@
"meta" : {
"definition" : {
"val" : "Calcification, that is, pathological deposition of calcium salts in the arch of aorta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1969291"
@@ -159885,7 +160555,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped lung veins",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1970501"
@@ -159898,13 +160568,13 @@
"meta" : {
"definition" : {
"val" : "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in cerebral vein",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Cerebral thrombosis"
@@ -159930,7 +160600,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent lung vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1970630"
@@ -159945,7 +160615,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Lack of facial fat below the skin",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3277426"
@@ -159958,7 +160628,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -159967,7 +160637,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped bladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855335"
@@ -159993,8 +160663,8 @@
"val" : "UMLS:C4025211"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T06:37:00Z"
@@ -160016,8 +160686,8 @@
"val" : "UMLS:C4025210"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-26T06:40:00Z"
@@ -160033,7 +160703,7 @@
"meta" : {
"definition" : {
"val" : "A severe form of B lymphocytopenia in which the count of B cells is very low or absent.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160059,7 +160729,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160076,7 +160746,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the physiological functioning of B cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells." ],
"synonyms" : [ {
@@ -160120,12 +160790,12 @@
"meta" : {
"definition" : {
"val" : "An abnormally low count of T cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Decrease in T cell count",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decrease in T cell number"
@@ -160161,7 +160831,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase from the normal count of B cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160220,7 +160890,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.",
- "xrefs" : [ "ORCID:0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -160255,7 +160925,7 @@
"meta" : {
"definition" : {
"val" : "An increased density in the cranial sutures following obliteration.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025195"
@@ -160277,31 +160947,31 @@
"meta" : {
"definition" : {
"val" : "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.",
- "xrefs" : [ "DDD:awilkie", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-2972-5481" ]
},
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Early closure of the cranial sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasBroadSynonym",
"val" : "Premature closure of the cranial sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Early closure of the fontanelles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Obliterated fontanelles"
}, {
"pred" : "hasNarrowSynonym",
"val" : "Early closure of the bregma sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Premature closure of the bregma sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D003398"
@@ -160324,13 +160994,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the frontal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of bone of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic frontal bones"
@@ -160338,25 +161008,25 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small bone of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of bone of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic frontal bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic frontal bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Thin bone of forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1845147"
@@ -160390,21 +161060,21 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Flat back of the head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Flat back of the skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Flat posterior head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat posterior cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Posterior flattening of the skull"
@@ -160429,7 +161099,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).",
- "xrefs" : [ "DDD:awilkie", "HPO:probinson", "ORCID:0000-0001-8612-1062", "PMID:31173381" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8612-1062", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-2972-5481", "PMID:31173381" ]
},
"comments" : [ "A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualisation of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy." ],
"synonyms" : [ {
@@ -160445,7 +161115,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Soft skullcap",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Undermineralized calvarium"
@@ -160477,17 +161147,17 @@
"meta" : {
"definition" : {
"val" : "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Development of small head that was not present at birth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Acquired microcephaly",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Deceleration of head growth"
@@ -160525,36 +161195,36 @@
"meta" : {
"definition" : {
"val" : "A fontanelle that is small for age.",
- "xrefs" : [ "HPO:probinson", "PMID:12825844" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:12825844" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Little cranial sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small cranial sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Little fontanelle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Microfontanelle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small soft spot",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Small bregma sutures",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:276710001"
@@ -160573,13 +161243,13 @@
"meta" : {
"definition" : {
"val" : "A transient reduction in the number of erythroblasts in the circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Transient decrease in blood erythrocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4082199"
@@ -160592,7 +161262,7 @@
"meta" : {
"definition" : {
"val" : "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025187"
@@ -160605,7 +161275,7 @@
"meta" : {
"definition" : {
"val" : "Average platelet volume below the lower limit of the normal reference interval.",
- "xrefs" : [ "DDD:wouwehand" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-7744-1790" ]
},
"comments" : [ "Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL)." ],
"synonyms" : [ {
@@ -160638,7 +161308,7 @@
"meta" : {
"definition" : {
"val" : "A reduced count of megakaryocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes." ],
"xrefs" : [ {
@@ -160652,14 +161322,14 @@
"meta" : {
"definition" : {
"val" : "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\".",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025180"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T10:04:00Z"
@@ -160672,7 +161342,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the form or number of cells in the bone marrow.",
- "xrefs" : [ "DDD:wouwehand", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-7744-1790" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160692,8 +161362,8 @@
"val" : "UMLS:C4021634"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T10:46:00Z"
@@ -160706,7 +161376,7 @@
"meta" : {
"definition" : {
"val" : "A reduction in the count of nephrons per kidney.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160728,7 +161398,7 @@
"meta" : {
"definition" : {
"val" : "A duplication of the renal pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1839269"
@@ -160749,8 +161419,8 @@
"val" : "UMLS:C4021631"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T09:03:00Z"
@@ -160782,18 +161452,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic to absent femora"
@@ -160819,13 +161489,13 @@
"meta" : {
"definition" : {
"val" : "The ability of the interphalangeal joints to move beyond their normal range of motion.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased mobility of hinge joints",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025172"
@@ -160838,13 +161508,13 @@
"meta" : {
"definition" : {
"val" : "Absent ossification of the calvaria (vault of the skull).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent bone maturation of skullcap",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent ossification of skull vault"
@@ -160860,7 +161530,7 @@
"meta" : {
"definition" : {
"val" : "Osteoporosis affecting predominantly the vertebrae.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025170"
@@ -160879,7 +161549,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Absent forearms",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1408532"
@@ -160892,7 +161562,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormal calcium deposition of the intervertebral disk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -160922,7 +161592,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flattened end part of knee bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025150"
@@ -160935,7 +161605,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (reduced size) of the tibia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -160947,12 +161617,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short skankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short tibiae"
@@ -161008,7 +161678,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the tibia.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161017,22 +161687,22 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic tibia"
@@ -161048,7 +161718,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -161066,7 +161736,7 @@
"meta" : {
"definition" : {
"val" : "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025136"
@@ -161083,7 +161753,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -161106,7 +161776,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short long bone of upper arm",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -161142,13 +161812,13 @@
"meta" : {
"definition" : {
"val" : "Aplasia (absence) of the distal phalanges.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent outermost digital bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861339"
@@ -161161,7 +161831,7 @@
"meta" : {
"definition" : {
"val" : "The presence of more than 12 rib pairs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -161186,7 +161856,7 @@
"meta" : {
"definition" : {
"val" : "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161210,7 +161880,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short middle phalanges"
@@ -161251,7 +161921,7 @@
"meta" : {
"definition" : {
"val" : "One or more bent (flexed) toe joints that cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161287,13 +161957,13 @@
"meta" : {
"definition" : {
"val" : "An abnormally round shape of the middle phalanx of the finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Rounded middle bone of finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025126"
@@ -161306,7 +161976,7 @@
"meta" : {
"definition" : {
"val" : "A lack of bone mineralization of one or more body of cervical vertebra.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025115"
@@ -161319,13 +161989,13 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormal curvature of the cervical vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal neck curve",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3151523"
@@ -161340,7 +162010,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of metacarpal epiphyses"
@@ -161349,8 +162019,8 @@
"val" : "UMLS:C4025110"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:13:00Z"
@@ -161363,7 +162033,7 @@
"meta" : {
"definition" : {
"val" : "Aplasia or Hypoplasia affecting the metacarpal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161372,12 +162042,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small long bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped long bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic metacarpals"
@@ -161398,8 +162068,8 @@
"val" : "UMLS:C1836192"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:14:00Z"
@@ -161414,14 +162084,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Irregularly shaped metacarpal bones of varying degree.",
- "xrefs" : [ "HPO:curators" ]
+ "val" : "Any abnormal shape or structure of the metacarpal bones.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of long bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of metacarpal bones"
@@ -161430,8 +162100,8 @@
"val" : "UMLS:C4021615"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:17:00Z"
@@ -161450,13 +162120,13 @@
"meta" : {
"definition" : {
"val" : "The presence of more than the normal number of metacarpal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra long bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:91846008"
@@ -161464,8 +162134,8 @@
"val" : "UMLS:C0545617"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:18:00Z"
@@ -161478,7 +162148,7 @@
"meta" : {
"definition" : {
"val" : "Abnormalities affecting the phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This category is a supercategory for abnormalties affect phalanges of the hand." ],
"synonyms" : [ {
@@ -161491,7 +162161,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the phalanges"
@@ -161503,8 +162173,8 @@
"val" : "UMLS:C4021614"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:19:00Z"
@@ -161523,14 +162193,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4021613"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:21:00Z"
@@ -161546,21 +162216,21 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025109"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:25:00Z"
@@ -161581,14 +162251,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the wide portion of the hand bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025108"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:27:00Z"
@@ -161601,13 +162271,13 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the epiphyses of the phalanges or metacarpal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the hand bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the hand bones"
@@ -161625,8 +162295,8 @@
"val" : "UMLS:C4025107"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:28:00Z"
@@ -161641,7 +162311,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormalities of shaft of long bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormalities of the diaphyses of the hand"
@@ -161650,8 +162320,8 @@
"val" : "UMLS:C4025106"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:28:00Z"
@@ -161664,18 +162334,18 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of the bones of the hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia/absence of hand bones"
@@ -161684,8 +162354,8 @@
"val" : "UMLS:C4021612"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T02:29:00Z"
@@ -161698,13 +162368,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of epiphysis morphology"
@@ -161722,8 +162392,8 @@
"val" : "UMLS:C4021611"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-27T03:00:00Z"
@@ -161739,13 +162409,13 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of arginine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood arginine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Arginine deficiency"
@@ -161763,7 +162433,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161788,7 +162458,7 @@
"meta" : {
"definition" : {
"val" : "Reduced amount of adipose tissue in the region of the neck.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161797,7 +162467,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of fat around neck",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1837763"
@@ -161812,7 +162482,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1860111"
@@ -161825,7 +162495,7 @@
"meta" : {
"definition" : {
"val" : "Delay in the process of formation and maturation of the epiphysis of one or more phalanx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -161834,7 +162504,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed bone maturation of end part of digital bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021609"
@@ -161849,7 +162519,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Rounded end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1850632"
@@ -161862,7 +162532,7 @@
"meta" : {
"definition" : {
"val" : "A delay in the process of formation and maturation of the epiphysis of one or more long bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -161882,7 +162552,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased mobility in finger joint",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:298193009"
@@ -161897,13 +162567,13 @@
"meta" : {
"definition" : {
"val" : "Increased length of the proximal phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long innermost finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025090"
@@ -161916,13 +162586,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1865035"
@@ -161935,13 +162605,13 @@
"meta" : {
"definition" : {
"val" : "Increased length of multiple or a single phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025087"
@@ -161954,13 +162624,13 @@
"meta" : {
"definition" : {
"val" : "Bending or curvature of a thumb towards the ulnar side (towards the ring finger).",
- "xrefs" : [ "HPO:probinson", "PMID:10955488" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:10955488" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Curved thumb deviated towards palm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Ulnar deviation of the 1st finger"
@@ -161991,7 +162661,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cylindrical shaped long bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859369"
@@ -162020,7 +162690,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged innermost hinge joint",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861350"
@@ -162035,7 +162705,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased mobility of outermost hinge joint",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1851811"
@@ -162050,7 +162720,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged hinge joints",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859701"
@@ -162058,12 +162728,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0006254",
- "lbl" : "Elevated alpha-fetoprotein",
+ "lbl" : "Elevated circulating alpha-fetoprotein concentration",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An increased concentration of alpha-fetoprotein.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "val" : "Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.",
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele." ],
"synonyms" : [ {
@@ -162085,8 +162755,8 @@
"val" : "UMLS:C0476489"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T09:17:00Z"
@@ -162106,8 +162776,8 @@
"val" : "UMLS:C4025076"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T10:14:00Z"
@@ -162122,14 +162792,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal wrist bone maturation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025075"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T02:29:00Z"
@@ -162152,8 +162822,8 @@
"val" : "UMLS:C4021604"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T02:55:00Z"
@@ -162169,45 +162839,45 @@
"meta" : {
"definition" : {
"val" : "A small/hypoplastic or absent/aplastic 5th finger.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025074"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T02:59:00Z"
@@ -162220,25 +162890,25 @@
"meta" : {
"definition" : {
"val" : "Small/hypoplastic or absent/aplastic fingers.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small fingers",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped fingers",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025071"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T03:09:00Z"
@@ -162251,7 +162921,7 @@
"meta" : {
"definition" : {
"val" : "Reduced size of the placenta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -162271,7 +162941,7 @@
"meta" : {
"definition" : {
"val" : "Increased size of the placenta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -162294,13 +162964,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the spleen.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped spleen",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1970617"
@@ -162313,7 +162983,7 @@
"meta" : {
"definition" : {
"val" : "Reduced number of beta cells in the pancreatic islets of Langerhans.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The beta cells are responsible for producing insulin and amylin." ],
"xrefs" : [ {
@@ -162336,13 +163006,13 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the dental enamel.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:18499550", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:18499550", "PMID:31468724" ]
},
"comments" : [ "Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue." ],
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Defective enamel matrix",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
@@ -162351,7 +163021,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Thin tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dental enamel hypoplasia"
@@ -162367,7 +163037,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplasia of tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -162376,7 +163046,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Dysplasia of tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Enamel dysplasia"
@@ -162416,16 +163086,16 @@
"meta" : {
"definition" : {
"val" : "Dagger-shaped calcifications in the dental pulp.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Dagger shaped pulp denticles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dagger shaped pulp stones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025067"
@@ -162439,52 +163109,52 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Atrophy of alveolar margins",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Atrophy of alveolar processes of jaw",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Resorption of alveolar margins",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Resorption of alveolar processes of jaw",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Resorption of alveolar ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Shrinking of alveolar ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shrinking of gum ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Alveolar bone loss"
}, {
"pred" : "hasRelatedSynonym",
"val" : "Flattening of alveolar margin",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Flattening of alveolar processes of jaw",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Flattening of alveolar ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Flattening of gum ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855642"
@@ -162501,23 +163171,23 @@
"meta" : {
"definition" : {
"val" : "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.",
- "xrefs" : [ "HPO:probinson", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:31468724" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Underdeveloped tooth roots",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of dental roots",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of tooth roots",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dental root hypoplasia"
@@ -162538,7 +163208,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short tooth roots",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -162555,7 +163225,7 @@
"meta" : {
"definition" : {
"val" : "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -162578,8 +163248,8 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A bent (flexed) knee joint that cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:31282072" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -162587,31 +163257,19 @@
"pred" : "hasBroadSynonym",
"val" : "Inability to straighten knee",
"xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0002-6548-5200" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Contractures of knees"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Contractures of the knees"
}, {
"pred" : "hasExactSynonym",
"val" : "Flexion contracture of knees"
}, {
"pred" : "hasExactSynonym",
"val" : "Flexion contractures at both knees",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flexion contractures of knees"
}, {
"pred" : "hasExactSynonym",
"val" : "Flexion deformity of the knee"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Knee contracture"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Knee contractures"
}, {
"pred" : "hasExactSynonym",
"val" : "Knee flexion contractures"
@@ -162636,7 +163294,7 @@
"meta" : {
"definition" : {
"val" : "Shortening of the legs related to developmental hypoplasia of the bones of the leg.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -162665,7 +163323,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the bone density of the long bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -162685,7 +163343,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent knee end part",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859462"
@@ -162700,7 +163358,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outer part of limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1840307"
@@ -162724,7 +163382,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased density of shaft of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844516"
@@ -162743,12 +163401,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small innermost upper end of calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped innermost upper end of calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859478"
@@ -162761,14 +163419,14 @@
"meta" : {
"definition" : {
"val" : "Absence of the patella.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent kneecap",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent patella"
@@ -162818,7 +163476,7 @@
"meta" : {
"definition" : {
"val" : "Formation of bone in the patella later than normal.",
- "xrefs" : [ "HPO:probinson", "PMID:6729496" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:6729496" ]
},
"comments" : [ "The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496)." ],
"synonyms" : [ {
@@ -162828,7 +163486,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed bone maturation of the knee cap",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021597"
@@ -162841,20 +163499,6 @@
"lbl" : "Ankle flexion contracture",
"type" : "CLASS",
"meta" : {
- "definition" : {
- "val" : "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.",
- "xrefs" : [ "HPO:probinson" ]
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "Ankle contracture"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Ankle contractures"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Contractures of the ankles"
- } ],
"xrefs" : [ {
"val" : "UMLS:C1837407"
} ],
@@ -162873,14 +163517,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025043"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T04:41:00Z"
@@ -162896,28 +163540,28 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of alveolar margin",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of dentoalveolar ridges",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of gum ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Defect in alveolar ridge"
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormality of alveolar processes of jaw",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:235013007"
@@ -162927,8 +163571,8 @@
"val" : "UMLS:C4280445"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T04:44:00Z"
@@ -162941,7 +163585,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the dental pulp.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -162949,18 +163593,18 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of tooth pulp",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Endodontic abnormality",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025042"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T04:46:00Z"
@@ -162973,18 +163617,18 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the morphology of the tooth.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of dental shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of shape of tooth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -162993,21 +163637,21 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Deformity of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Dental deformity",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Dental malformations",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Malformation of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -163031,8 +163675,8 @@
"val" : "UMLS:C0262444"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T05:41:00Z"
@@ -163048,13 +163692,13 @@
"meta" : {
"definition" : {
"val" : "The presence of an altered number of of teeth.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"comments" : [ "Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal complement of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -163063,7 +163707,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal tooth count",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:335443002"
@@ -163071,8 +163715,8 @@
"val" : "UMLS:C1290508"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T05:44:00Z"
@@ -163085,7 +163729,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the dental root.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -163095,7 +163739,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of tooth root",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dental root anomaly"
@@ -163104,8 +163748,8 @@
"val" : "UMLS:C4025041"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T05:52:00Z"
@@ -163118,7 +163762,7 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature of a long bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Curvatures of a long bone such as femur, tibia, or fibula." ],
"synonyms" : [ {
@@ -163147,8 +163791,8 @@
"val" : "UMLS:C1855340"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T05:56:00Z"
@@ -163179,13 +163823,13 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature affecting a long bone of the arm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bending of the arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -163195,8 +163839,8 @@
"val" : "UMLS:C0426863"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T05:57:00Z"
@@ -163209,13 +163853,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the femoral metaphysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the wide portion of the femoral bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the femoral metaphysis"
@@ -163226,8 +163870,8 @@
"val" : "UMLS:C4280444"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:02:00Z"
@@ -163245,14 +163889,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the wide portion of the lower-limb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025039"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:02:00Z"
@@ -163267,12 +163911,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the wide portion of shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of the wide portion of shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the tibial metaphysis"
@@ -163281,8 +163925,8 @@
"val" : "UMLS:C4025038"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:03:00Z"
@@ -163295,18 +163939,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the fibula.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Fibular aplasia/hypoplasia"
@@ -163318,8 +163962,8 @@
"val" : "UMLS:C1856732"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:03:00Z"
@@ -163338,25 +163982,25 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small lower limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped lower limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025037"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:04:00Z"
@@ -163371,19 +164015,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small foot bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped foot bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025036"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:08:00Z"
@@ -163396,25 +164040,25 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small bones of the upper limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped bones of the upper limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025035"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:16:00Z"
@@ -163427,7 +164071,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the patella.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -163439,12 +164083,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small kneecap",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped kneecap",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic or hypoplastic patellae"
@@ -163464,8 +164108,8 @@
"val" : "UMLS:C1868577"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:25:00Z"
@@ -163488,25 +164132,28 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0006499",
- "lbl" : "Abnormality of femoral epiphysis",
+ "lbl" : "Abnormal femoral epiphysis morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "An anomaly of a growth plate of a femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of femoral epiphysis"
+ }, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of thighbone end part",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025034"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:28:00Z"
@@ -163530,7 +164177,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of end part of lower limb end bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality involving the epiphyses of the lower limbs"
@@ -163539,8 +164186,8 @@
"val" : "UMLS:C4021595"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:31:00Z"
@@ -163553,25 +164200,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the carpal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025033"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:35:00Z"
@@ -163584,25 +164231,25 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of one or more forearm bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small forearm bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped forearm bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025032"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:45:00Z"
@@ -163621,7 +164268,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of end part of limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality involving the epiphyses of the limbs"
@@ -163633,8 +164280,8 @@
"val" : "UMLS:C4021593"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-28T06:48:00Z"
@@ -163647,25 +164294,25 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025031"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T09:15:00Z"
@@ -163680,14 +164327,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025030"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T09:19:00Z"
@@ -163700,7 +164347,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pulmonary lymphatic chain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4025026"
@@ -163724,7 +164371,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of the bronical cartilage",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4025024"
@@ -163737,7 +164384,7 @@
"meta" : {
"definition" : {
"val" : "The presence of abnormal calcium deposition in the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -163763,7 +164410,7 @@
"meta" : {
"definition" : {
"val" : "The presence of reduced numbers of intrahepatic bile duct than normal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -163790,7 +164437,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small abnormally formed shoulder blade",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861226"
@@ -163807,7 +164454,7 @@
"meta" : {
"definition" : {
"val" : "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -163824,7 +164471,7 @@
"meta" : {
"definition" : {
"val" : "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.",
- "xrefs" : [ "HPO:probinson", "PMID:10204210" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:10204210" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -163842,7 +164489,7 @@
"meta" : {
"definition" : {
"val" : "Lack of formation of mineralized bony tissue of the sternum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -163854,7 +164501,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Absent bone maturation in sternum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1857074"
@@ -163876,7 +164523,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -163933,7 +164580,7 @@
"meta" : {
"definition" : {
"val" : "Calcium deposition in the myocardium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Calcification affecting the muscle layer of the heart." ],
"synonyms" : [ {
@@ -163953,7 +164600,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally short chordae tendineae of the tricuspid valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve." ],
"xrefs" : [ {
@@ -163967,7 +164614,7 @@
"meta" : {
"definition" : {
"val" : "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography." ],
"synonyms" : [ {
@@ -163989,19 +164636,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small lungs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped lungs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024996"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:17:00Z"
@@ -164014,7 +164661,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the coronary arteries.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "Fyler:3100"
@@ -164024,8 +164671,8 @@
"val" : "UMLS:C0158623"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:33:00Z"
@@ -164038,7 +164685,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of an atrioventricular valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -164048,8 +164695,8 @@
"val" : "UMLS:C4024995"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:34:00Z"
@@ -164065,13 +164712,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hepatic vasculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of liver blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the liver vasculature"
@@ -164080,8 +164727,8 @@
"val" : "UMLS:C4024994"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:41:00Z"
@@ -164099,12 +164746,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small nipples",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped nipples",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Nipples absent or rudimentary"
@@ -164113,8 +164760,8 @@
"val" : "UMLS:C3150086"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:51:00Z"
@@ -164133,25 +164780,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the clavicles (collar bones).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small collarbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped collarbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024993"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:53:00Z"
@@ -164166,19 +164813,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost thorax bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thorax bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024992"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:53:00Z"
@@ -164193,12 +164840,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small ribs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped ribs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic or missing ribs"
@@ -164207,8 +164854,8 @@
"val" : "UMLS:C1847363"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:54:00Z"
@@ -164226,19 +164873,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small shoulder blade",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped shoulder blade",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024991"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T03:58:00Z"
@@ -164253,19 +164900,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small sternum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped sternum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024990"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-29T04:01:00Z"
@@ -164278,13 +164925,13 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the stomach.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Stomach tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -164312,7 +164959,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of the anterior horn cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles." ],
"synonyms" : [ {
@@ -164345,18 +164992,18 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the cerebrum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small cerebrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped cerebrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1855330"
@@ -164373,7 +165020,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024959"
@@ -164386,7 +165033,7 @@
"meta" : {
"definition" : {
"val" : "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024957"
@@ -164399,7 +165046,7 @@
"meta" : {
"definition" : {
"val" : "The presence of calcium deposition in the choroid plexus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -164430,7 +165077,7 @@
"meta" : {
"definition" : {
"val" : "A morphological abnormality of the metencephalon.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain." ],
"xrefs" : [ {
@@ -164444,7 +165091,7 @@
"meta" : {
"definition" : {
"val" : "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.",
- "xrefs" : [ "HPO:probinson", "PMID:25105227", "PMID:27160001" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:25105227", "PMID:27160001" ]
},
"comments" : [ "Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations." ],
"xrefs" : [ {
@@ -164483,7 +165130,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overactive knee reflex",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -164500,7 +165147,7 @@
"meta" : {
"definition" : {
"val" : "Amyotrophy (muscular atrophy) affecting the proximal musculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Proximal amyotrophy usually has a roughly symmetric distribution." ],
"synonyms" : [ {
@@ -164522,7 +165169,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wasting of muscles near the body",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1850794"
@@ -164551,7 +165198,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy of distal arm muscles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -164577,7 +165224,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting the lower limb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024921"
@@ -164590,7 +165237,7 @@
"meta" : {
"definition" : {
"val" : "Agenesis of the midbrain.",
- "xrefs" : [ "KI:phemming" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:KI_phemming" ]
},
"comments" : [ "Midbrain and mesencephalon are synonymous." ],
"xrefs" : [ {
@@ -164604,18 +165251,18 @@
"meta" : {
"definition" : {
"val" : "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Spinal muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Spinal muscle wasting",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009134"
@@ -164653,7 +165300,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the frontal lobe of the cerebrum.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -164665,7 +165312,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped frontal lobe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849172"
@@ -164731,12 +165378,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small cerebellum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped cerebellum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Atrophy/Degeneration affecting the cerebellum"
@@ -164751,8 +165398,8 @@
"val" : "UMLS:C3279222"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-31T05:30:00Z"
@@ -164771,7 +165418,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the pons.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The pons is the portion of the brainstem superior to the medulla oblongata." ],
"synonyms" : [ {
@@ -164782,8 +165429,8 @@
"val" : "UMLS:C4024905"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-31T05:32:00Z"
@@ -164798,19 +165445,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small brainstem",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped brainstem",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024904"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-31T05:33:00Z"
@@ -164825,19 +165472,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small cerebrum",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped cerebrum",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024902"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-03-31T05:43:00Z"
@@ -164856,8 +165503,8 @@
"val" : "UMLS:C4024900"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T10:22:00Z"
@@ -164877,8 +165524,8 @@
"val" : "UMLS:C4024899"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T10:23:00Z"
@@ -164891,14 +165538,14 @@
"meta" : {
"definition" : {
"val" : "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024898"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T10:28:00Z"
@@ -164911,19 +165558,19 @@
"meta" : {
"definition" : {
"val" : "Wasting involving the motor neuron.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Motor neuron degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024896"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T10:39:00Z"
@@ -164936,15 +165583,15 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced." ],
"xrefs" : [ {
"val" : "UMLS:C4024893"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T10:52:00Z"
@@ -164957,13 +165604,13 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "GI tract tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -164997,8 +165644,8 @@
"val" : "UMLS:C0017185"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T11:55:00Z"
@@ -165011,7 +165658,7 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the genitourinary system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165042,8 +165689,8 @@
"val" : "UMLS:C4020809"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-01T12:00:00Z"
@@ -165056,13 +165703,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the sweat glands.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped sweat glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1832455"
@@ -165075,13 +165722,13 @@
"meta" : {
"definition" : {
"val" : "Lack of subcutaneous adipose tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent fat below the skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "General absence of subcutaneous fat"
@@ -165107,7 +165754,7 @@
"meta" : {
"definition" : {
"val" : "The presence of fewer than normal sweat glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -165187,7 +165834,7 @@
"meta" : {
"definition" : {
"val" : "Congenital underdevelopment of the iris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -165200,7 +165847,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped iris",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:95714006"
@@ -165225,7 +165872,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.",
- "xrefs" : [ "DDD:ncarter" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_ncarter" ]
},
"comments" : [ "In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures." ],
"synonyms" : [ {
@@ -165287,7 +165934,7 @@
"meta" : {
"definition" : {
"val" : "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165306,7 +165953,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal development of the choroid and retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024809"
@@ -165319,7 +165966,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the lacrimal gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165328,7 +165975,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped tear gland",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1863200"
@@ -165341,13 +165988,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally big lacrimal glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged tear gland",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1867030"
@@ -165360,7 +166007,7 @@
"meta" : {
"definition" : {
"val" : "Reduced transparency of the stroma of cornea.",
- "xrefs" : [ "DDD:gblack" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165371,7 +166018,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Cloudy corneas",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:246957002"
@@ -165406,7 +166053,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped retina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1854685"
@@ -165419,7 +166066,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the ciliary body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1836890"
@@ -165432,7 +166079,7 @@
"meta" : {
"definition" : {
"val" : "A kind of cataract that progresses with age.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165466,7 +166113,7 @@
"meta" : {
"definition" : {
"val" : "Deposition of calcium salts in the retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1867289"
@@ -165479,7 +166126,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the lacrimal puncta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
@@ -165503,7 +166150,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped tear duct",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1968574"
@@ -165518,7 +166165,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of iris blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3275963"
@@ -165531,7 +166178,7 @@
"meta" : {
"definition" : {
"val" : "A reduction of corneal clarity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -165578,7 +166225,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -165608,7 +166255,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the stroma of iris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165619,7 +166266,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped iris stroma",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1860344"
@@ -165639,13 +166286,13 @@
"meta" : {
"definition" : {
"val" : "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Malformed tear ducts",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024757"
@@ -165658,7 +166305,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -165682,17 +166329,17 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the lacrimal gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped lacrimal glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped tear glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1835602"
@@ -165705,13 +166352,13 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of retinal vasculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of retina blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the retinal vasculature"
@@ -165720,8 +166367,8 @@
"val" : "UMLS:C4024753"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T12:09:00Z"
@@ -165736,14 +166383,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of eye blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024752"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T12:10:00Z"
@@ -165756,25 +166403,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the iris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small iris",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped iris",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024748"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T01:50:00Z"
@@ -165787,19 +166434,19 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped uvea",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024746"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:24:00Z"
@@ -165814,19 +166461,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small eye",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped eye",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024745"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:25:00Z"
@@ -165840,14 +166487,14 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent/small fundus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "https://en.wikipedia.org/wiki/febrile_seizure" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://en.wikipedia.org/wiki/febrile_seizure" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024744"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:27:00Z"
@@ -165862,19 +166509,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small retina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped retina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024740"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:30:00Z"
@@ -165887,14 +166534,14 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the anterior segment of the eye.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024739"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:33:00Z"
@@ -165907,25 +166554,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the lens.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent/small lens",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped lens",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024738"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:33:00Z"
@@ -165940,19 +166587,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024737"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:44:00Z"
@@ -165967,19 +166614,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally loose or hyperelastic skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally loose or stretchable skin",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024736"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-02T03:56:00Z"
@@ -165992,7 +166639,7 @@
"meta" : {
"definition" : {
"val" : "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1836872"
@@ -166005,7 +166652,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1844712"
@@ -166018,13 +166665,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the fifth metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the 5th long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024733"
@@ -166037,7 +166684,7 @@
"meta" : {
"definition" : {
"val" : "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -166046,7 +166693,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed ankle bone maturation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846853"
@@ -166067,7 +166714,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Deformed ankle bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1856746"
@@ -166080,7 +166727,7 @@
"meta" : {
"definition" : {
"val" : "Excessive amounts of mucopolysaccharide in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding is suggestive of the diagnosis of a mucopolysaccharidosis." ],
"xrefs" : [ {
@@ -166100,7 +166747,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small adrenal cortex",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024719"
@@ -166128,7 +166775,7 @@
"meta" : {
"definition" : {
"val" : "The congenital absence of the thyroid gland.",
- "xrefs" : [ "HPO:probinson", "PMID:2918525" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:2918525" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -166149,7 +166796,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal development of the adrenal gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -166169,7 +166816,7 @@
"meta" : {
"definition" : {
"val" : "Enlargement of the adrenal gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -166189,12 +166836,12 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the adrenal medulla.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Small adrenal medulla",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024717"
@@ -166207,7 +166854,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of zinc ion homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -166229,13 +166876,13 @@
"meta" : {
"definition" : {
"val" : "Atrophy (wasting) of the cerebellar cortex.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Cerebellar cortex degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024710"
@@ -166257,7 +166904,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the mitochondria in muscle tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This finding is typically demonstrated by muscle biopsy." ],
"synonyms" : [ {
@@ -166275,7 +166922,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the mitochondria.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature may be assessed by means of electron microscopy." ],
"synonyms" : [ {
@@ -166305,7 +166952,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of a branched chain amino acid in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024697"
@@ -166318,18 +166965,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the big toe.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent/small big toe",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped big toe",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic halluces"
@@ -166338,8 +166985,8 @@
"val" : "UMLS:C1836213"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T11:33:00Z"
@@ -166361,18 +167008,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the tarsal bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small ankle bone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped ankle bone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplastic/hypoplastic tarsals"
@@ -166381,8 +167028,8 @@
"val" : "UMLS:C1848671"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T11:35:00Z"
@@ -166406,7 +167053,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Contractures of the foot joints",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Joint contractures involving the joints of the feet"
@@ -166417,8 +167064,8 @@
"val" : "UMLS:C0343149"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T11:44:00Z"
@@ -166434,7 +167081,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -166443,12 +167090,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Hardening of ankle bones",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of ankle bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021544"
@@ -166456,8 +167103,8 @@
"val" : "UMLS:C4025075"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T11:53:00Z"
@@ -166470,7 +167117,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -166479,14 +167126,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021543"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T11:59:00Z"
@@ -166501,8 +167148,8 @@
"val" : "UMLS:C4024686"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T12:29:00Z"
@@ -166522,8 +167169,8 @@
"val" : "UMLS:C4024685"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T12:35:00Z"
@@ -166539,7 +167186,7 @@
"meta" : {
"definition" : {
"val" : "Small, underdeveloped vertebral bodies.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -166564,7 +167211,7 @@
"meta" : {
"definition" : {
"val" : "The presence of degenerative changes of intervertebral disk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -166576,7 +167223,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Degenerative disc disease",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -166609,7 +167256,7 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4021853"
@@ -166624,7 +167271,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped 5th lumbar vertebrae",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1859366"
@@ -166641,7 +167288,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped cervical vertebrae",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1835570"
@@ -166660,12 +167307,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small tailbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped tailbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1856644"
@@ -166687,7 +167334,7 @@
"meta" : {
"definition" : {
"val" : "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments." ],
"synonyms" : [ {
@@ -166705,7 +167352,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the atlas and the axis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The atlas is the first cervical vertebral body and the axis is the second vertebral body." ],
"xrefs" : [ {
@@ -166719,7 +167366,7 @@
"meta" : {
"definition" : {
"val" : "Excessive growth of the bones of the vertebral bodies.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1834057"
@@ -166792,7 +167439,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped spinal processes",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024674"
@@ -166834,7 +167481,7 @@
"meta" : {
"definition" : {
"val" : "Dysplasia of the cervical vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:C566140"
@@ -166858,7 +167505,7 @@
"meta" : {
"definition" : {
"val" : "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024670"
@@ -166907,19 +167554,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small vertebrae",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped vertebrae",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024662"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T02:30:00Z"
@@ -166934,8 +167581,8 @@
"val" : "UMLS:C4024661"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T02:31:00Z"
@@ -166948,25 +167595,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the sacral bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small sacrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped sacrum",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024660"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T02:32:00Z"
@@ -166981,39 +167628,39 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small backbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small spine",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small vertebral column",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped backbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped spine",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped vertebral column",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024659"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T02:33:00Z"
@@ -167026,13 +167673,13 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the coccyx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal tailbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the coccyx"
@@ -167041,8 +167688,8 @@
"val" : "UMLS:C4024658"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T02:41:00Z"
@@ -167058,7 +167705,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the external ear.",
- "xrefs" : [ "HPO:probinson", "PMID:19152421", "PMID:3270622" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152421", "PMID:3270622" ]
},
"comments" : [ "The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -167117,7 +167764,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a malformed cochlea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." ],
"xrefs" : [ {
@@ -167131,7 +167778,7 @@
"meta" : {
"definition" : {
"val" : "A malformation of the auricle of the ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -167153,7 +167800,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the cochlea.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167161,7 +167808,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped cochlea",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2676974"
@@ -167174,7 +167821,7 @@
"meta" : {
"definition" : {
"val" : "A progressive type of conductive deafness.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167200,7 +167847,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the morphology or structure of the middle ear.",
- "xrefs" : [ "DDD:mbitner-glidicz" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_mbitner-glidicz" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -167242,7 +167889,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal enlargement of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167261,7 +167908,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped gonad",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0239761"
@@ -167274,18 +167921,18 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the fallopian tube.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small fallopian tube",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped fallopian tube",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Absent or rudimentary fallopian tubes"
@@ -167303,7 +167950,7 @@
"meta" : {
"definition" : {
"val" : "Hypertrophy of the clitoris.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Increased size of the clitoris." ],
"synonyms" : [ {
@@ -167316,7 +167963,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged clitoris",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypertrophic clitoris"
@@ -167344,7 +167991,7 @@
"meta" : {
"definition" : {
"val" : "Incomplete maturation or aberrant formation of the male gametes.",
- "xrefs" : [ "HPO:probinson", "MP:0001156" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0001156" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167369,18 +168016,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small kidney",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped kidney",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Renal agenesis/hypoplasia"
@@ -167406,18 +168053,18 @@
"meta" : {
"definition" : {
"val" : "Absence or developmental hypoplasia of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small uterus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped uterus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024640"
@@ -167435,7 +168082,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped prostate",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1844923"
@@ -167448,13 +168095,13 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the fallopian tube.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped fallopian tube",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Rudimentary fallopian tubes"
@@ -167479,7 +168126,7 @@
"meta" : {
"definition" : {
"val" : "Deposition of calcium salts in gonadal tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024636"
@@ -167503,7 +168150,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a diverticulum (sac or pouch) in the wall of the urethra.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:90531003"
@@ -167518,13 +168165,13 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the ovary.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped ovary",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypoplastic ovary"
@@ -167544,7 +168191,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the vagina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167553,7 +168200,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped vagina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypoplastic vagina"
@@ -167577,7 +168224,7 @@
"meta" : {
"definition" : {
"val" : "Reduced volume of the testicle (the male gonad).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -167635,7 +168282,7 @@
"meta" : {
"definition" : {
"val" : "Ossification affecting the set of cartilages of larynx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage)." ],
"xrefs" : [ {
@@ -167649,7 +168296,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the larynx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167672,7 +168319,7 @@
"meta" : {
"definition" : {
"val" : "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.",
- "xrefs" : [ "HPO:probinson", "PMID:17178945" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:17178945" ]
},
"comments" : [ "Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft." ],
"synonyms" : [ {
@@ -167697,7 +168344,7 @@
"meta" : {
"definition" : {
"val" : "A malformation of the laryngeal cartilage.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167718,7 +168365,7 @@
"meta" : {
"definition" : {
"val" : "Calcification (abnormal deposits of calcium) in the laryngeal tissues.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
@@ -167740,25 +168387,25 @@
"meta" : {
"definition" : {
"val" : "The presence of aplasia or developmental hypoplasia of the ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024627"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T05:44:00Z"
@@ -167771,25 +168418,25 @@
"meta" : {
"definition" : {
"val" : "The presence of aplasia or developmental hypoplasia of all or part of the external ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small external ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped external ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024626"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T05:45:00Z"
@@ -167802,18 +168449,18 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of all or part of the middle ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small middle ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic/aplastic middle ear structures"
@@ -167825,8 +168472,8 @@
"val" : "UMLS:C4021529"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T05:47:00Z"
@@ -167845,25 +168492,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the inner ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small inner ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped inner ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024625"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T05:48:00Z"
@@ -167876,7 +168523,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the prostate.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -167887,8 +168534,8 @@
"val" : "UMLS:C0747987"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T06:01:00Z"
@@ -167901,13 +168548,13 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the renal artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal kidney artery",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the renal artery"
@@ -167916,8 +168563,8 @@
"val" : "UMLS:C4024624"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T06:13:00Z"
@@ -167930,7 +168577,7 @@
"meta" : {
"definition" : {
"val" : "Delayed maturation and calcification of the pubic bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -167940,7 +168587,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation fo pubic bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
@@ -167961,24 +168608,6 @@
"val" : "HP:0008827"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/HP_0008800",
- "lbl" : "Limited hip movement",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.",
- "xrefs" : [ "HPO:probinson" ]
- },
- "synonyms" : [ {
- "synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
- "pred" : "hasExactSynonym",
- "val" : "Limited hip movement"
- } ],
- "xrefs" : [ {
- "val" : "UMLS:C1851542"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0008802",
"lbl" : "Hypoplasia of the femoral head",
@@ -167986,7 +168615,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the femoral head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -167998,7 +168627,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small head of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1856920"
@@ -168015,7 +168644,7 @@
"meta" : {
"definition" : {
"val" : "A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.",
- "xrefs" : [ "HPO:probinson", "ORCID:0000-0002-6670-9157", "PMID:23764788", "PMID:34377520" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-6670-9157", "PMID:23764788", "PMID:34377520" ]
},
"comments" : [ "Acetabular dysplasia can lead to hip pain and early-onset hip osteoarthritis." ],
"synonyms" : [ {
@@ -168039,17 +168668,17 @@
"meta" : {
"definition" : {
"val" : "An abnormally flattened femoral head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flat head of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Flattened femoral heads",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1860601"
@@ -168062,7 +168691,7 @@
"meta" : {
"definition" : {
"val" : "Lack of ossification of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The ossification center of the capital femoral epiphysis appears at the end of the first year after birth." ],
"synonyms" : [ {
@@ -168080,7 +168709,7 @@
"meta" : {
"definition" : {
"val" : "Developmental delay of ossification of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The proximal femoral epiphyseal ossification center normally appears at about age 6 months." ],
"synonyms" : [ {
@@ -168101,13 +168730,13 @@
"meta" : {
"definition" : {
"val" : "Delayed ossification of the femoral head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Delayed maturation of the head of the thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846446"
@@ -168122,7 +168751,7 @@
"meta" : {
"definition" : {
"val" : "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to." ],
"xrefs" : [ {
@@ -168136,7 +168765,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the bony pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -168164,7 +168793,7 @@
"meta" : {
"definition" : {
"val" : "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs)." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -168201,7 +168830,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Short limb dwarfism",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849937"
@@ -168251,13 +168880,13 @@
"meta" : {
"definition" : {
"val" : "A loss of adipose tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of fat tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024615"
@@ -168274,7 +168903,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting proximally located muscles of the arms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168298,13 +168927,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of muscles of the shoulder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped shoulder muscle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1969001"
@@ -168317,7 +168946,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168335,7 +168964,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Wasting of thigh muscle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836767"
@@ -168355,7 +168984,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the muscuklature of the calf.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168364,7 +168993,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped calf muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3805450"
@@ -168377,7 +169006,7 @@
"meta" : {
"definition" : {
"val" : "Muscle hypertrophy primarily affecting the legs.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1850663"
@@ -168390,7 +169019,7 @@
"meta" : {
"definition" : {
"val" : "Muscle hypertrophy affecting the calf muscles.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Distal lower limb hypertrophy" ],
"synonyms" : [ {
@@ -168400,7 +169029,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of calf muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Muscular hypertrophy of the calf muscles"
@@ -168423,32 +169052,32 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of muscles of the neck.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of neck muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small neck muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of neck muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Deficiency of neck muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic neck muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1969000"
@@ -168465,7 +169094,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the amount of intramuscular fat tissue.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -168487,14 +169116,14 @@
"meta" : {
"definition" : {
"val" : "Congenital lack, i.e., aplasia of the diaphragm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent diaphragm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Agenesis of diaphragm"
@@ -168514,7 +169143,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168535,7 +169164,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the amount of intraabdominal fat tissue.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1835390"
@@ -168548,13 +169177,13 @@
"meta" : {
"definition" : {
"val" : "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of fat tissue in trunk",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Loss of subcutaneous truncal adipose tissue"
@@ -168577,13 +169206,13 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased fat below the skin in trunk",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1837781"
@@ -168596,7 +169225,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the musculature.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168609,7 +169238,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped muscle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped muscles"
@@ -168631,7 +169260,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1868167"
@@ -168644,13 +169273,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of muscles of the arm.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of upper limb muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846478"
@@ -168663,7 +169292,7 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormally increased amount of connective tissue.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1866021"
@@ -168676,7 +169305,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C3805860"
@@ -168691,7 +169320,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Loss of fat tissue below the skin from upper limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024602"
@@ -168704,7 +169333,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal accumulation of lipids in skeletal muscle.",
- "xrefs" : [ "HPO:probinson", "PMID:20691590" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20691590" ]
},
"comments" : [ "Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy." ],
"synonyms" : [ {
@@ -168754,18 +169383,18 @@
"meta" : {
"definition" : {
"val" : "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressive spinal muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Progressive spinal muscle wasting",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4082951"
@@ -168780,16 +169409,16 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increasing size of gum ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Progressive hypertrophy of alveolar process of jaw",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Increasing overgrowth of gum ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1854934"
@@ -168805,18 +169434,18 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent/small pelvis",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pelvis",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024597"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:40:00Z"
@@ -168829,18 +169458,18 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the pubic bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pubic bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pubic bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -168850,8 +169479,8 @@
"val" : "UMLS:C1849305"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:41:00Z"
@@ -168867,13 +169496,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of the pubic bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024596"
@@ -168881,8 +169510,8 @@
"val" : "UMLS:C4280403"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:41:00Z"
@@ -168895,7 +169524,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of any bone of the bony pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -168904,7 +169533,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of the pelvis bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021525"
@@ -168912,8 +169541,8 @@
"val" : "UMLS:C4280402"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:42:00Z"
@@ -168928,14 +169557,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of thigh bone head and neck",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024595"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:42:00Z"
@@ -168950,19 +169579,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small head and neck of thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped head and neck of thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024594"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-04T08:44:00Z"
@@ -168975,25 +169604,25 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small skeleton",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped skeleton",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024592"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T10:53:00Z"
@@ -169008,8 +169637,8 @@
"val" : "UMLS:C4024591"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T10:53:00Z"
@@ -169022,7 +169651,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -169034,8 +169663,8 @@
"val" : "UMLS:C4024586"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T11:16:00Z"
@@ -169048,14 +169677,14 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024585"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T11:29:00Z"
@@ -169068,7 +169697,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -169078,7 +169707,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of fat tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -169088,8 +169717,8 @@
"val" : "UMLS:C4021524"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T11:40:00Z"
@@ -169102,7 +169731,7 @@
"meta" : {
"definition" : {
"val" : "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -169112,14 +169741,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased fat tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024583"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-05T11:43:00Z"
@@ -169134,7 +169763,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal limb muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -169144,8 +169773,8 @@
"val" : "UMLS:C4024582"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T02:00:00Z"
@@ -169160,19 +169789,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small muscles of extremities",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped muscles of extremities",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024581"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T02:01:00Z"
@@ -169185,7 +169814,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy involving the muscles of the upper limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -169195,8 +169824,8 @@
"val" : "UMLS:C4021523"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T05:01:00Z"
@@ -169212,7 +169841,7 @@
"meta" : {
"definition" : {
"val" : "Muscular atrophy involving the muscles of the hand.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term can be used to described bilateral amyotrophy of the musculature of the hand." ],
"synonyms" : [ {
@@ -169225,7 +169854,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Hand muscle degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hand muscle wasting"
@@ -169237,8 +169866,8 @@
"val" : "UMLS:C0239830"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T05:01:00Z"
@@ -169263,14 +169892,14 @@
"meta" : {
"definition" : {
"val" : "A disease or lesion affecting the muscles of the thorax.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024580"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-07T05:06:00Z"
@@ -169283,7 +169912,7 @@
"meta" : {
"definition" : {
"val" : "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -169293,8 +169922,8 @@
"val" : "UMLS:C4021522"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-17T02:39:00Z"
@@ -169314,8 +169943,8 @@
"val" : "UMLS:C4024578"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-04-17T02:45:00Z"
@@ -169335,8 +169964,8 @@
"val" : "UMLS:C4024574"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-05-02T01:23:00Z"
@@ -169351,8 +169980,8 @@
"val" : "UMLS:C4024573"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-05-02T01:29:00Z"
@@ -169365,7 +169994,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -169380,8 +170009,8 @@
"val" : "UMLS:C4021520"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-05-02T01:39:00Z"
@@ -169394,30 +170023,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024572"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-22T01:39:32Z"
@@ -169430,30 +170059,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024571"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-22T01:40:08Z"
@@ -169466,30 +170095,30 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the proximal phalanx of the little (5th) finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024570"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-22T02:00:20Z"
@@ -169502,30 +170131,30 @@
"meta" : {
"definition" : {
"val" : "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of little finger bone",
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"val" : "Abnormality of end part of pinky finger bone",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
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"val" : "2008-12-22T02:07:27Z"
@@ -169538,30 +170167,30 @@
"meta" : {
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
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"val" : "2008-12-22T05:47:42Z"
@@ -169574,30 +170203,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
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@@ -169610,30 +170239,30 @@
"meta" : {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the innermost bone of pinky finger",
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"basicPropertyValues" : [ {
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@@ -169646,30 +170275,30 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the innermost bone of pinkie finger",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"val" : "Absent end part of the innermost bone of pinky finger",
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"basicPropertyValues" : [ {
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- "val" : "peter"
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@@ -169682,7 +170311,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
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@@ -169691,29 +170320,29 @@
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"pred" : "hasExactSynonym",
"val" : "Absent/small middle bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bone of little finger",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"pred" : "hasExactSynonym",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bone of pinky finger",
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"xrefs" : [ {
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
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@@ -169731,7 +170360,7 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormal calcification of the wrist bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Carpal calcifications"
@@ -169740,8 +170369,8 @@
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"basicPropertyValues" : [ {
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- "val" : "peter"
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"val" : "2008-12-22T06:53:39Z"
@@ -169757,30 +170386,30 @@
"meta" : {
"definition" : {
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- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
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- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
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@@ -169793,23 +170422,23 @@
"meta" : {
"definition" : {
"val" : "Displacement of the 5th finger from its normal position.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"val" : "Displaced pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Laterally displaced fifth finger"
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} ],
"basicPropertyValues" : [ {
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@@ -169835,14 +170464,14 @@
"meta" : {
"definition" : {
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- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
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"basicPropertyValues" : [ {
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@@ -169855,7 +170484,7 @@
"meta" : {
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@@ -169868,8 +170497,8 @@
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"basicPropertyValues" : [ {
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@@ -169885,14 +170514,14 @@
"meta" : {
"definition" : {
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- "xrefs" : [ "HPO:probinson" ]
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@@ -169905,14 +170534,14 @@
"meta" : {
"definition" : {
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@@ -169931,14 +170560,14 @@
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.",
- "xrefs" : [ "HPO:curator" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
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@@ -169951,14 +170580,14 @@
"meta" : {
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"val" : "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
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@@ -169971,35 +170600,35 @@
"meta" : {
"definition" : {
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+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
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"val" : "2009-01-05T05:57:28Z"
@@ -170012,7 +170641,7 @@
"meta" : {
"definition" : {
"val" : "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.",
- "xrefs" : [ "HPO:doelkens" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -170029,8 +170658,8 @@
"val" : "UMLS:C1860253"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-30T02:03:34Z"
@@ -170049,20 +170678,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024543"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-30T02:03:34Z"
@@ -170075,13 +170704,13 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent metacarpal ossification center"
@@ -170094,8 +170723,8 @@
"val" : "UMLS:C4021513"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2008-12-30T02:03:34Z"
@@ -170111,7 +170740,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -170133,8 +170762,8 @@
"val" : "UMLS:C4021512"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T04:41:32Z"
@@ -170150,14 +170779,14 @@
"meta" : {
"definition" : {
"val" : "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024540"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T05:10:13Z"
@@ -170170,30 +170799,30 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024537"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T05:22:18Z"
@@ -170206,30 +170835,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024534"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T05:22:18Z"
@@ -170242,14 +170871,14 @@
"meta" : {
"definition" : {
"val" : "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T05:22:18Z"
@@ -170262,30 +170891,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024529"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T05:22:18Z"
@@ -170298,7 +170927,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic/small proximal phalanx of the fifth finger.",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -170306,17 +170935,17 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Short innermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -170326,8 +170955,8 @@
"val" : "UMLS:C4021509"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T06:01:34Z"
@@ -170340,30 +170969,30 @@
"meta" : {
"definition" : {
"val" : "Curved appearance of the proximal phalanx of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Curved innermost bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Curved innermost bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024515"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T06:11:33Z"
@@ -170376,7 +171005,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -170413,19 +171042,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1842878"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T06:54:07Z"
@@ -170464,29 +171093,29 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024507"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-05T07:25:50Z"
@@ -170501,8 +171130,8 @@
"val" : "UMLS:C4024413"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T10:50:19Z"
@@ -170515,35 +171144,35 @@
"meta" : {
"definition" : {
"val" : "Aplasia/Hypoplasia of the phalanges of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent/small little finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinkie finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinky finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pinky finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024410"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T11:58:25Z"
@@ -170556,7 +171185,7 @@
"meta" : {
"definition" : {
"val" : "Aplasia of one or more fingers.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -170569,8 +171198,8 @@
"val" : "UMLS:C0728895"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:05:32Z"
@@ -170586,7 +171215,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally short finger associated with developmental hypoplasia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -170606,7 +171235,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Stubby finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
"pred" : "hasExactSynonym",
@@ -170620,8 +171249,8 @@
"val" : "UMLS:C1844548"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:07:38Z"
@@ -170640,30 +171269,30 @@
"meta" : {
"definition" : {
"val" : "Absence of one or more epiphyses of the 5th finger.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024407"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:19:03Z"
@@ -170676,30 +171305,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the little finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the pinkie finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the pinky finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024404"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:19:03Z"
@@ -170712,14 +171341,14 @@
"meta" : {
"definition" : {
"val" : "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024400"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:19:03Z"
@@ -170732,30 +171361,30 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024399"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-13T01:19:03Z"
@@ -170768,7 +171397,7 @@
"meta" : {
"definition" : {
"val" : "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -170788,8 +171417,8 @@
"val" : "UMLS:C0231679"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-15T09:39:43Z"
@@ -170808,7 +171437,7 @@
"meta" : {
"definition" : {
"val" : "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -170826,8 +171455,8 @@
"val" : "UMLS:C0158113"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-15T09:59:59Z"
@@ -170876,20 +171505,20 @@
"meta" : {
"definition" : {
"val" : "Displacement of the hand or of fingers of the hand from their normal position.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Displaced hand or fingers of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024338"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-15T10:45:01Z"
@@ -170902,17 +171531,17 @@
"meta" : {
"definition" : {
"val" : "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Ulnar deviation of hands",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Ulnar deviation of the hands",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:249757009"
@@ -170920,8 +171549,8 @@
"val" : "UMLS:C0241521"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-15T10:51:52Z"
@@ -170934,40 +171563,40 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the pharynx.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasBroadSynonym",
"val" : "Small pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased size of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Decreased diameter of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Decreased length of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Decreased volume of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Decreased width of pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024295"
@@ -170983,8 +171612,8 @@
"val" : "UMLS:C4280400"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-21T05:24:16Z"
@@ -170997,14 +171626,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of thumb long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the epiphyses of the thumb"
@@ -171016,8 +171645,8 @@
"val" : "UMLS:C4021429"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T11:46:15Z"
@@ -171028,12 +171657,12 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0009600",
- "lbl" : "Flexion contracture of thumb",
+ "lbl" : "Contracture of thumb",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:16214063", "PMID:24975760", "PMID:31282072" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171044,6 +171673,9 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Joint contractures of the thumb"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Thumb joint contracture"
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:239736003"
@@ -171051,8 +171683,8 @@
"val" : "UMLS:C0409346"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T01:06:31Z"
@@ -171071,7 +171703,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic/small or absent thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171086,12 +171718,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia/hypoplasia of thumbs"
@@ -171114,8 +171746,8 @@
"val" : "UMLS:C3179508"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T01:08:24Z"
@@ -171134,13 +171766,13 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of one or more phalanges of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the thumb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of thumb phalanges"
@@ -171149,8 +171781,8 @@
"val" : "UMLS:C4021428"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T01:10:39Z"
@@ -171169,13 +171801,13 @@
"meta" : {
"definition" : {
"val" : "Displacement of the thumb from its normal position.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal thumb placement",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Deviated thumb"
@@ -171187,8 +171819,8 @@
"val" : "UMLS:C3552414"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T01:49:57Z"
@@ -171204,20 +171836,20 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021427"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:28:16Z"
@@ -171236,20 +171868,20 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024273"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:32:28Z"
@@ -171265,14 +171897,14 @@
"meta" : {
"definition" : {
"val" : "Partail or complete duplication of the first metacarpal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the 1st metacarpal"
@@ -171281,8 +171913,8 @@
"val" : "UMLS:C4021426"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:33:31Z"
@@ -171295,7 +171927,7 @@
"meta" : {
"definition" : {
"val" : "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other." ],
"synonyms" : [ {
@@ -171314,7 +171946,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Notched outermost bone of thumb"
@@ -171326,8 +171958,8 @@
"val" : "UMLS:C1860162"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:48:49Z"
@@ -171355,7 +171987,7 @@
"meta" : {
"definition" : {
"val" : "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171373,7 +172005,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanx of the thumb"
@@ -171382,8 +172014,8 @@
"val" : "UMLS:C4021425"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:51:43Z"
@@ -171396,13 +172028,13 @@
"meta" : {
"definition" : {
"val" : "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched innermost bone of thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the proximal phalanx of the thumb"
@@ -171411,8 +172043,8 @@
"val" : "UMLS:C4021424"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T03:59:56Z"
@@ -171425,20 +172057,20 @@
"meta" : {
"definition" : {
"val" : "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024272"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:01:27Z"
@@ -171451,21 +172083,21 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the first metacarpal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the first long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024271"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:06:17Z"
@@ -171478,14 +172110,14 @@
"meta" : {
"definition" : {
"val" : "Partial duplication of the first metacarpal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched first long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "partial duplication of the first metacarpal"
@@ -171494,8 +172126,8 @@
"val" : "UMLS:C4021423"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:06:17Z"
@@ -171508,7 +172140,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of the distal phalanx of thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171517,14 +172149,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021422"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:13:47Z"
@@ -171540,14 +172172,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the shape or form of the proximal phalanx of the thumb.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal innermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of proximal thumb phalanx"
@@ -171556,8 +172188,8 @@
"val" : "UMLS:C4021421"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:13:47Z"
@@ -171568,19 +172200,23 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0009624",
- "lbl" : "Contractures of the carpometacarpal joint of the thumb",
+ "lbl" : "Carpometacarpal thumb joint contracture",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Contracture of the carpometacarpal joint of the thumb"
+ } ],
"xrefs" : [ {
"val" : "UMLS:C4024269"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:52:18Z"
@@ -171588,19 +172224,23 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0009625",
- "lbl" : "Contractures of the metacarpophalangeal joint of the thumb",
+ "lbl" : "Metacarpophalangeal thumb joint contracture",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Contracture of the metacarpophalangeal joint of the thumb"
+ } ],
"xrefs" : [ {
"val" : "UMLS:C2108151"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:52:18Z"
@@ -171608,14 +172248,17 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0009626",
- "lbl" : "Contractures of the interphalangeal joint of the thumb",
+ "lbl" : "Interphalangeal thumb joint contracture",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Contracture of the interphalangeal joint of the thumb"
+ }, {
"pred" : "hasExactSynonym",
"val" : "Interphalangeal extension contractures of thumbs"
} ],
@@ -171623,8 +172266,8 @@
"val" : "UMLS:C2108146"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T04:52:18Z"
@@ -171640,25 +172283,25 @@
"meta" : {
"definition" : {
"val" : "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped innermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024268"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:09:41Z"
@@ -171671,20 +172314,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of the proximal phalanx of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024265"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:09:41Z"
@@ -171697,7 +172340,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171708,7 +172351,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Short proximal thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short proximal thumb phalanx"
@@ -171717,8 +172360,8 @@
"val" : "UMLS:C1855091"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:11:02Z"
@@ -171739,19 +172382,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024261"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:19:33Z"
@@ -171764,20 +172407,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of the distal phalanx of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024259"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:19:33Z"
@@ -171790,7 +172433,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic (short) distal phalanx of the thumb.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171802,7 +172445,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short terminal thumb phalanx"
@@ -171817,8 +172460,8 @@
"val" : "UMLS:C1862313"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:22:06Z"
@@ -171837,7 +172480,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of a thumb phalanx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171846,14 +172489,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021414"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:29:26Z"
@@ -171868,19 +172511,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small thumb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thumb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024256"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:29:26Z"
@@ -171896,7 +172539,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplastic (short) thumb phalanx.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171908,7 +172551,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short thumb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short thumb phalanges"
@@ -171917,8 +172560,8 @@
"val" : "UMLS:C4021411"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:35:50Z"
@@ -171937,7 +172580,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -171946,14 +172589,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021410"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:49:31Z"
@@ -171969,20 +172612,20 @@
"meta" : {
"definition" : {
"val" : "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of thumb innermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024254"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-29T05:49:31Z"
@@ -171995,20 +172638,20 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of thumb innermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024253"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:17:13Z"
@@ -172021,20 +172664,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of thumb innermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024250"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:17:13Z"
@@ -172047,14 +172690,14 @@
"meta" : {
"definition" : {
"val" : "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024246"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:17:13Z"
@@ -172067,20 +172710,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of thumb innermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024245"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:17:13Z"
@@ -172093,20 +172736,20 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of thumb outermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024242"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:18:09Z"
@@ -172119,13 +172762,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of thumb outermost long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Large terminal thumb phalanx epiphysis"
@@ -172134,8 +172777,8 @@
"val" : "UMLS:C4021408"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:18:09Z"
@@ -172151,19 +172794,19 @@
"meta" : {
"definition" : {
"val" : "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Pseudoepiphysis of the outermost bone of the thumb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024237"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:18:09Z"
@@ -172176,20 +172819,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of thumb outermost bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024236"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:18:09Z"
@@ -172202,14 +172845,14 @@
"meta" : {
"definition" : {
"val" : "Absence of one or more epiphyses of the thumb.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024233"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:20:16Z"
@@ -172222,13 +172865,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of thumb long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Enlarged epiphyses of the thumb"
@@ -172237,8 +172880,8 @@
"val" : "UMLS:C4021406"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:20:16Z"
@@ -172251,7 +172894,7 @@
"meta" : {
"definition" : {
"val" : "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172261,8 +172904,8 @@
"val" : "UMLS:C3552484"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:20:16Z"
@@ -172275,13 +172918,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of thumb long bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Small epiphyses of the thumb"
@@ -172290,8 +172933,8 @@
"val" : "UMLS:C4021402"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T09:20:16Z"
@@ -172304,14 +172947,14 @@
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024230"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T04:01:28Z"
@@ -172324,7 +172967,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the epididymis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The epididymis is the structure that connects efferent ductules to vas deferens." ],
"synonyms" : [ {
@@ -172335,8 +172978,8 @@
"val" : "UMLS:C4024222"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-30T11:44:43Z"
@@ -172349,7 +172992,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172359,8 +173002,8 @@
"val" : "UMLS:C4024214"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-01-31T02:20:51Z"
@@ -172373,7 +173016,7 @@
"meta" : {
"definition" : {
"val" : "Small or missing phalangeal bones of the fingers of the hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172389,8 +173032,8 @@
"val" : "UMLS:C1848670"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-02T11:38:04Z"
@@ -172414,14 +173057,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024211"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-02T11:38:04Z"
@@ -172434,7 +173077,7 @@
"meta" : {
"definition" : {
"val" : "Hypoplasia (congenital reduction in size) of the thumb.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -172473,8 +173116,8 @@
"val" : "UMLS:C0431890"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-02T05:46:42Z"
@@ -172505,25 +173148,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment involving the musculature of the thigh.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small thigh muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thigh muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024207"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-03T05:16:42Z"
@@ -172536,14 +173179,14 @@
"meta" : {
"definition" : {
"val" : "Presence of a bifid sacral bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024204"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-03T05:22:25Z"
@@ -172556,13 +173199,13 @@
"meta" : {
"definition" : {
"val" : "The presence of two or more accessory spleens.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra spleen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:10362008"
@@ -172570,8 +173213,8 @@
"val" : "UMLS:C0266631"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-11T05:44:01Z"
@@ -172584,7 +173227,7 @@
"meta" : {
"definition" : {
"val" : "Short (hypoplastic) phalanx of finger, affecting one or more phalanges.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172616,8 +173259,8 @@
"val" : "UMLS:C0877165"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-12T05:57:11Z"
@@ -172642,21 +173285,21 @@
"meta" : {
"definition" : {
"val" : "The absence of one or more teeth from the normal series by a failure\nto develop",
- "xrefs" : [ "HPO:sdoelken", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154", "PMID:31468724" ]
},
"comments" : [ "Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased tooth count",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dental agenesis"
}, {
"pred" : "hasExactSynonym",
"val" : "Failure of development of some teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -172669,17 +173312,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Decreased number of teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Fewer teeth than normal",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Missing some teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024202"
@@ -172698,7 +173341,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of a diaphysis of the arm.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172707,7 +173350,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of shaft of long bone of the upper limbs",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Diaphyseal abnormality of the upper limbs"
@@ -172716,8 +173359,8 @@
"val" : "UMLS:C4021389"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T04:55:36Z"
@@ -172733,13 +173376,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of one or more metaphyses of the arms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the wide portion of upper limb bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of upper limb metaphysis"
@@ -172751,8 +173394,8 @@
"val" : "UMLS:C4021388"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T04:55:36Z"
@@ -172779,8 +173422,8 @@
"val" : "UMLS:C4021387"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T04:57:56Z"
@@ -172793,7 +173436,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the joint that connects the upper and the lower arm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -172809,8 +173452,8 @@
"val" : "UMLS:C4021386"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T04:59:43Z"
@@ -172826,14 +173469,14 @@
"meta" : {
"definition" : {
"val" : "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024199"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:06:12Z"
@@ -172846,18 +173489,18 @@
"meta" : {
"definition" : {
"val" : "Absence (due to failure to form) or underdevelopment of the extremities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small extremities",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped extremities",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short or absent limbs"
@@ -172869,8 +173512,8 @@
"val" : "UMLS:C0239399"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:06:40Z"
@@ -172889,7 +173532,7 @@
"meta" : {
"definition" : {
"val" : "Leg shortening because of underdevelopment of one or more bones of the lower extremity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -172905,7 +173548,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped lower limb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:253959002"
@@ -172913,8 +173556,8 @@
"val" : "UMLS:C0345371"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:09:32Z"
@@ -172936,14 +173579,14 @@
"meta" : {
"definition" : {
"val" : "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024196"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:11:07Z"
@@ -172956,7 +173599,7 @@
"meta" : {
"definition" : {
"val" : "Forearm shortening because of underdevelopment of one or more bones of the forearm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -172982,8 +173625,8 @@
"val" : "UMLS:C1855299"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:11:42Z"
@@ -173005,7 +173648,7 @@
"meta" : {
"definition" : {
"val" : "Arm shortening because of underdevelopment of one or more bones of the upper extremity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173027,8 +173670,8 @@
"val" : "UMLS:C1837406"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:13:20Z"
@@ -173047,7 +173690,7 @@
"meta" : {
"definition" : {
"val" : "Limb shortening because of underdevelopment of one or more bones of the extremities.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173064,7 +173707,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short limbs",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -173074,8 +173717,8 @@
"val" : "UMLS:C0239399"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:16:44Z"
@@ -173097,14 +173740,14 @@
"meta" : {
"definition" : {
"val" : "The distal parts of the limbs are missing leading to a stump formation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4024192"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-02-23T05:17:25Z"
@@ -173117,7 +173760,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of distal phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173132,14 +173775,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021385"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:01:39Z"
@@ -173155,13 +173798,13 @@
"meta" : {
"definition" : {
"val" : "An anomaly of middle phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle finger bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle phalanges of the hand"
@@ -173170,8 +173813,8 @@
"val" : "UMLS:C4024191"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:01:39Z"
@@ -173186,7 +173829,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost finger bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the proximal phalanges of the hand"
@@ -173195,8 +173838,8 @@
"val" : "UMLS:C4024190"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:01:39Z"
@@ -173209,7 +173852,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the distal phalanges.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173218,12 +173861,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost finger bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost finger bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia/Hypoplasia of the distal phalanges"
@@ -173242,14 +173885,14 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Small or absent distal phalanges",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861336"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:10:11Z"
@@ -173276,14 +173919,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost finger bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024188"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:10:11Z"
@@ -173304,12 +173947,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small middle finger bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle finger bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia/hypoplasia of middle phalanges"
@@ -173330,8 +173973,8 @@
"val" : "UMLS:C1862152"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:15:55Z"
@@ -173355,14 +173998,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved middle finger bonds of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024186"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:15:55Z"
@@ -173380,19 +174023,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost finger bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped innermost finger bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024182"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:16:33Z"
@@ -173407,14 +174050,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost finger bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024179"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-03-11T12:16:33Z"
@@ -173430,7 +174073,7 @@
"meta" : {
"definition" : {
"val" : "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"comments" : [ "This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -173462,7 +174105,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Terminal phalangeal hypoplasia of hand"
@@ -173471,8 +174114,8 @@
"val" : "UMLS:C1839829"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-04-24T04:29:30Z"
@@ -173515,7 +174158,7 @@
"meta" : {
"definition" : {
"val" : "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173524,12 +174167,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched outermost bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanges of the hand"
@@ -173538,8 +174181,8 @@
"val" : "UMLS:C1849343"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-04-24T04:33:55Z"
@@ -173558,7 +174201,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -173569,8 +174212,8 @@
"val" : "UMLS:C4024171"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-04-30T06:18:33Z"
@@ -173583,7 +174226,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased hair growth with a localized distribution.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -173597,14 +174240,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Localized abnormal hair growth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024170"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-04-30T06:29:20Z"
@@ -173617,7 +174260,7 @@
"meta" : {
"definition" : {
"val" : "Complete absence of any auricular structures.",
- "xrefs" : [ "HPO:probinson", "PMID:19125421" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125421" ]
},
"comments" : [ "Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -173629,11 +174272,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Absent ears",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Congenital absence of external ear",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D065817"
@@ -173645,8 +174288,8 @@
"val" : "UMLS:C1408788"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-04-30T06:53:41Z"
@@ -173659,7 +174302,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -173670,8 +174313,8 @@
"val" : "UMLS:C4024163"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-01T03:33:17Z"
@@ -173684,26 +174327,26 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment or absence of the nose or parts thereof.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased nasal size",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypoplasia of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Hypotrophic nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:204519007"
@@ -173717,8 +174360,8 @@
"val" : "UMLS:C4280392"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-05T06:44:04Z"
@@ -173739,16 +174382,16 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Mono nostril",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "One nostril",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Single nare",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -173760,8 +174403,8 @@
"val" : "UMLS:C0685682"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-10T10:33:56Z"
@@ -173780,20 +174423,20 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Accessory nares",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Accessory nostril",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra nostril",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary nares",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary nostrils"
@@ -173802,8 +174445,8 @@
"val" : "UMLS:C4021372"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-10T10:37:41Z"
@@ -173816,29 +174459,29 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the nasal septum.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Ageneis of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Failure of development of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024156"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-10T10:40:21Z"
@@ -173851,13 +174494,13 @@
"meta" : {
"definition" : {
"val" : "Excess facial hair.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Excessive face hair",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1850041"
@@ -173865,8 +174508,8 @@
"val" : "UMLS:C2128203"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-10T10:58:49Z"
@@ -173899,8 +174542,8 @@
"val" : "UMLS:C4024154"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-10T11:17:18Z"
@@ -173913,7 +174556,7 @@
"meta" : {
"definition" : {
"val" : "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173921,7 +174564,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Duplicated thumbs",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Duplication of phalanx of thumb"
@@ -173933,8 +174576,8 @@
"val" : "UMLS:C4021370"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-15T12:51:02Z"
@@ -173950,7 +174593,7 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -173959,7 +174602,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of thumb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Digitalization of thumb"
@@ -173971,8 +174614,8 @@
"val" : "UMLS:C3554724"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-15T12:51:35Z"
@@ -173991,7 +174634,7 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -174006,14 +174649,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the thumb bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4082168"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-15T12:51:57Z"
@@ -174032,13 +174675,13 @@
"meta" : {
"definition" : {
"val" : "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of phalanges of the 5th finger"
@@ -174046,19 +174689,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021354"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:23:38Z"
@@ -174071,30 +174714,30 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024128"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:20Z"
@@ -174107,30 +174750,30 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024127"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:20Z"
@@ -174143,23 +174786,23 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the distal phalanx of little finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanx of the 5th finger"
@@ -174168,8 +174811,8 @@
"val" : "UMLS:C4021353"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:20Z"
@@ -174182,23 +174825,23 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the fifth middle phalanx of hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the middle little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the middle pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the middle pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the middle phalanx of the 5th finger"
@@ -174207,8 +174850,8 @@
"val" : "UMLS:C4021352"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:20Z"
@@ -174221,23 +174864,23 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the fifth proximal phalanx of hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the proximal phalanx of the 5th finger"
@@ -174246,8 +174889,8 @@
"val" : "UMLS:C4021351"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:20Z"
@@ -174260,30 +174903,30 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the distal phalanx of little finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024126"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:33Z"
@@ -174296,30 +174939,30 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the fifth middle phalanx of hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the middle little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the middle pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the middle pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024125"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:33Z"
@@ -174332,30 +174975,30 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the fifth proximal phalanx of hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024124"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:33Z"
@@ -174368,7 +175011,7 @@
"meta" : {
"definition" : {
"val" : "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -174377,29 +175020,29 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of outermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of outermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of outermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021350"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:47Z"
@@ -174412,30 +175055,30 @@
"meta" : {
"definition" : {
"val" : "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the middle little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the middle pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the middle pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024123"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:47Z"
@@ -174448,30 +175091,30 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Partial duplication of the innermost little finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the innermost pinkie finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the innermost pinky finger bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024122"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:24:47Z"
@@ -174484,7 +175127,7 @@
"meta" : {
"definition" : {
"val" : "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -174495,8 +175138,8 @@
"val" : "UMLS:C4021349"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:28:25Z"
@@ -174512,20 +175155,20 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024121"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:30:16Z"
@@ -174538,20 +175181,20 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Partial duplication of hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024120"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T02:30:35Z"
@@ -174564,20 +175207,20 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024119"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:02Z"
@@ -174590,21 +175233,21 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the distal phalanges of the hand.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism." ],
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024118"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:02Z"
@@ -174617,20 +175260,20 @@
"meta" : {
"definition" : {
"val" : "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.",
- "xrefs" : [ "HPO:sdoelken" ]
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"pred" : "hasExactSynonym",
"val" : "Complete duplication of the middle bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:02Z"
@@ -174643,20 +175286,20 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Partial duplication of the innermost bones of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:29Z"
@@ -174669,7 +175312,7 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -174678,14 +175321,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the outermost bone of the hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:29Z"
@@ -174701,20 +175344,20 @@
"meta" : {
"definition" : {
"val" : "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the middle bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024115"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T03:55:29Z"
@@ -174727,13 +175370,13 @@
"meta" : {
"definition" : {
"val" : "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the proximal phalanges of the hand"
@@ -174742,8 +175385,8 @@
"val" : "UMLS:C4021347"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T05:29:46Z"
@@ -174756,13 +175399,13 @@
"meta" : {
"definition" : {
"val" : "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the middle bones of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the middle phalanges of the hand"
@@ -174771,8 +175414,8 @@
"val" : "UMLS:C4021346"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-26T05:29:46Z"
@@ -174785,14 +175428,14 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the first metacarpal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the 1st metacarpal"
@@ -174801,8 +175444,8 @@
"val" : "UMLS:C4024114"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T03:35:21Z"
@@ -174815,13 +175458,13 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the fifth metacarpal bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the 5th long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the 5th metacarpal"
@@ -174830,8 +175473,8 @@
"val" : "UMLS:C4024110"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T03:35:21Z"
@@ -174844,20 +175487,20 @@
"meta" : {
"definition" : {
"val" : "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024109"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T03:43:11Z"
@@ -174872,14 +175515,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024108"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:02:50Z"
@@ -174892,20 +175535,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024105"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:02:50Z"
@@ -174918,15 +175561,15 @@
"meta" : {
"definition" : {
"val" : "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be seen for example in Holt-Oram Syndrome." ],
"xrefs" : [ {
"val" : "UMLS:C4024101"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:02:50Z"
@@ -174939,20 +175582,20 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024100"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:02:50Z"
@@ -174965,25 +175608,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024098"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:24:30Z"
@@ -174996,20 +175639,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of the first metacarpal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024095"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:24:30Z"
@@ -175022,7 +175665,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -175045,14 +175688,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shortened 1st long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849311"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:24:50Z"
@@ -175077,25 +175720,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or Hypoplasia affecting the 5th metacarpal.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small 5th long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped 5th long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024085"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:37:31Z"
@@ -175108,7 +175751,7 @@
"meta" : {
"definition" : {
"val" : "Short fifth metacarpal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -175126,14 +175769,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shortened 5th long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1861388"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:37:44Z"
@@ -175155,14 +175798,14 @@
"meta" : {
"definition" : {
"val" : "Developmental defect associated with absence of one or more metacarpal bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent metacarpal"
@@ -175174,8 +175817,8 @@
"val" : "UMLS:C1846473"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:40:58Z"
@@ -175211,7 +175854,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Shortened long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Shortened long bones of hand"
@@ -175224,14 +175867,14 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Short metacarpal bones",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1837084"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-27T04:40:58Z"
@@ -175265,13 +175908,13 @@
"meta" : {
"definition" : {
"val" : "Displacement of the big toe from its normal position.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Displacement of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Displacement of the hallux"
@@ -175280,8 +175923,8 @@
"val" : "UMLS:C4021344"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T11:36:44Z"
@@ -175297,14 +175940,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal shape or form of the proximal phalanx of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal innermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the proximal phalanx of the hallux"
@@ -175313,8 +175956,8 @@
"val" : "UMLS:C4024084"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T11:47:46Z"
@@ -175329,14 +175972,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024083"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T11:49:11Z"
@@ -175349,21 +175992,21 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024082"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T11:49:54Z"
@@ -175378,14 +176021,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024081"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:00:08Z"
@@ -175400,7 +176043,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal big toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the phalanges of the hallux"
@@ -175409,8 +176052,8 @@
"val" : "UMLS:C4024080"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:00:08Z"
@@ -175425,19 +176068,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024079"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:10:46Z"
@@ -175450,13 +176093,13 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of one or more phalanges of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curve bones of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved phalanges of the hallux"
@@ -175465,8 +176108,8 @@
"val" : "UMLS:C4021341"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:10:46Z"
@@ -175479,7 +176122,7 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of one or more phalanx of big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -175488,7 +176131,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -175509,8 +176152,8 @@
"val" : "UMLS:C4020691"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:10:46Z"
@@ -175532,25 +176175,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024076"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:13:57Z"
@@ -175563,20 +176206,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024074"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:13:57Z"
@@ -175589,13 +176232,13 @@
"meta" : {
"definition" : {
"val" : "A developmental defect consisting in the duplication of the first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplicated 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Duplicated first metatarsals"
@@ -175604,8 +176247,8 @@
"val" : "UMLS:C1851855"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:13:57Z"
@@ -175620,19 +176263,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024069"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:16:28Z"
@@ -175645,20 +176288,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of the distal phalanx of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024066"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:16:28Z"
@@ -175673,7 +176316,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanx of the hallux"
@@ -175682,8 +176325,8 @@
"val" : "UMLS:C4021339"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:16:28Z"
@@ -175698,19 +176341,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped innermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024061"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:17:16Z"
@@ -175723,20 +176366,20 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of the proximal phalanx of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024059"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:17:16Z"
@@ -175749,20 +176392,20 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the proximal phalanx of big toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024054"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:17:16Z"
@@ -175775,20 +176418,20 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the proximal phalanx of big toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024053"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:18:59Z"
@@ -175801,20 +176444,20 @@
"meta" : {
"definition" : {
"val" : "Partial duplication of the proximal phalanx of big toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the innermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024052"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:18:59Z"
@@ -175829,14 +176472,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024051"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:19:30Z"
@@ -175854,19 +176497,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched outermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the outermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021337"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:19:30Z"
@@ -175882,20 +176525,20 @@
"meta" : {
"definition" : {
"val" : "A developmental defect consisting in the complete duplication of the first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024050"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:20:12Z"
@@ -175911,20 +176554,20 @@
"meta" : {
"definition" : {
"val" : "A developmental defect consisting in the duplication of part of the first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024049"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:20:12Z"
@@ -175937,13 +176580,13 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of one or more phalanx of big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of big toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the phalanges of the hallux"
@@ -175952,8 +176595,8 @@
"val" : "UMLS:C4021336"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:22:12Z"
@@ -175968,7 +176611,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial duplication of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "partial duplication of hallux"
@@ -175977,8 +176620,8 @@
"val" : "UMLS:C1855005"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:22:12Z"
@@ -175994,7 +176637,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (hypoplasia) of the distal phalanx of big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176009,14 +176652,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small outermost bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021335"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:41:37Z"
@@ -176029,7 +176672,7 @@
"meta" : {
"definition" : {
"val" : "Short first metatarsal bone.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176041,14 +176684,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1841688"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:42:09Z"
@@ -176064,7 +176707,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (hypoplasia) of the proximal phalanx of big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176073,7 +176716,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short proximal phalanges of halluces"
@@ -176091,8 +176734,8 @@
"val" : "UMLS:C1862159"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:43:40Z"
@@ -176111,7 +176754,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (hypoplasia) of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176123,7 +176766,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short halluces"
@@ -176135,8 +176778,8 @@
"val" : "UMLS:C1865992"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:46:14Z"
@@ -176161,7 +176804,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (hypoplasia) of a phalanx of big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -176171,14 +176814,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short bone of big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021334"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T12:49:19Z"
@@ -176191,13 +176834,13 @@
"meta" : {
"definition" : {
"val" : "Failure to form (agenesis) of one or more epiphyses of the big toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent epiphyses of the hallux"
@@ -176206,8 +176849,8 @@
"val" : "UMLS:C4020906"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:16:38Z"
@@ -176222,14 +176865,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024043"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:16:38Z"
@@ -176244,8 +176887,8 @@
"val" : "UMLS:C4024039"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:16:38Z"
@@ -176260,14 +176903,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024038"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:16:38Z"
@@ -176282,14 +176925,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of the big toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024035"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:17:54Z"
@@ -176302,20 +176945,20 @@
"meta" : {
"definition" : {
"val" : "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:17:54Z"
@@ -176328,20 +176971,20 @@
"meta" : {
"definition" : {
"val" : "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:17:54Z"
@@ -176354,20 +176997,20 @@
"meta" : {
"definition" : {
"val" : "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the innermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:23Z"
@@ -176382,14 +177025,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the innermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024029"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:23Z"
@@ -176407,8 +177050,8 @@
"val" : "UMLS:C4024025"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:23Z"
@@ -176423,14 +177066,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the innermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024024"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:23Z"
@@ -176443,20 +177086,20 @@
"meta" : {
"definition" : {
"val" : "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024021"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:47Z"
@@ -176471,14 +177114,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024018"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:47Z"
@@ -176493,8 +177136,8 @@
"val" : "UMLS:C4024014"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:47Z"
@@ -176509,14 +177152,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024013"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:22:47Z"
@@ -176529,20 +177172,20 @@
"meta" : {
"definition" : {
"val" : "Failure to form (agenesis) of the epiphysis of the 1st metatarsal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024010"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:24:17Z"
@@ -176557,14 +177200,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024007"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:24:17Z"
@@ -176579,8 +177222,8 @@
"val" : "UMLS:C4024003"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:24:17Z"
@@ -176595,14 +177238,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the 1st long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4024002"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:24:17Z"
@@ -176610,21 +177253,24 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010160",
- "lbl" : "Abnormality of the epiphyses of the toes",
+ "lbl" : "Abnormal toe epiphysis morphology",
"type" : "CLASS",
"meta" : {
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of the epiphyses of the toes"
} ],
"xrefs" : [ {
"val" : "UMLS:C4023999"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:30:42Z"
@@ -176632,21 +177278,24 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010161",
- "lbl" : "Abnormality of the phalanges of the toes",
+ "lbl" : "Abnormal toe phalanx morphology",
"type" : "CLASS",
"meta" : {
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the long bones of the toes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of the phalanges of the toes"
} ],
"xrefs" : [ {
"val" : "UMLS:C4023998"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:31:17Z"
@@ -176659,20 +177308,20 @@
"meta" : {
"definition" : {
"val" : "Absence of the epiphyses of the phalanges of the toes.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023997"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:34:06Z"
@@ -176687,14 +177336,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023994"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:34:06Z"
@@ -176709,8 +177358,8 @@
"val" : "UMLS:C4023990"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:34:06Z"
@@ -176725,14 +177374,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023989"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:34:06Z"
@@ -176747,19 +177396,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023987"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:39:26Z"
@@ -176772,7 +177421,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of one or more toe phalanges.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176781,14 +177430,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021330"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:39:26Z"
@@ -176801,13 +177450,13 @@
"meta" : {
"definition" : {
"val" : "Partial/complete duplication of one or more phalanx of toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplicated toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the phalanges of the toes"
@@ -176816,8 +177465,8 @@
"val" : "UMLS:C4021328"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:39:26Z"
@@ -176832,14 +177481,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the toes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023982"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:51:38Z"
@@ -176854,14 +177503,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal middle bones of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023981"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:51:38Z"
@@ -176874,13 +177523,13 @@
"meta" : {
"definition" : {
"val" : "A morphological anomaly of one or more proximal phalanges of one or more toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal innermost toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the proximal phalanges of the toes"
@@ -176889,8 +177538,8 @@
"val" : "UMLS:C4021327"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:51:38Z"
@@ -176903,7 +177552,7 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the distal phalanges of the toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176912,12 +177561,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost bones of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost bones of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypoplasia/agenesis of distal phalanges of toes"
@@ -176928,8 +177577,8 @@
"val" : "UMLS:C4021326"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:52:41Z"
@@ -176948,7 +177597,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of one or more distal toe phalanges.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -176957,14 +177606,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of the toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021324"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:52:41Z"
@@ -176977,13 +177626,13 @@
"meta" : {
"definition" : {
"val" : "A partial or complete duplication of one or more distal phalanx of toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of outermost bone of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanges of the toes"
@@ -176992,8 +177641,8 @@
"val" : "UMLS:C4021322"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:52:41Z"
@@ -177008,19 +177657,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small middle bones of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bones of toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023976"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:53:35Z"
@@ -177033,12 +177682,12 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of one or more middle toe phalanges.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Curved middle bones of the toes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved middle phalanges of the toes"
@@ -177047,8 +177696,8 @@
"val" : "UMLS:C4021320"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:53:35Z"
@@ -177061,13 +177710,13 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of a middle phalanx of toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the middle bones of the toes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the middle phalanges of the toes"
@@ -177076,8 +177725,8 @@
"val" : "UMLS:C4021318"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:53:35Z"
@@ -177090,18 +177739,18 @@
"meta" : {
"definition" : {
"val" : "Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped innermost toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia/Hypoplasia of the proximal phalanges of the toes"
@@ -177110,8 +177759,8 @@
"val" : "UMLS:C4021317"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:54:18Z"
@@ -177124,13 +177773,13 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight shape of a proximal phalanx of one or more toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved proximal phalanges of the toes"
@@ -177139,8 +177788,8 @@
"val" : "UMLS:C4021315"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:54:18Z"
@@ -177153,13 +177802,13 @@
"meta" : {
"definition" : {
"val" : "Partial/complete duplication of a proximal phalanx of toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of innermost toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the proximal phalanges of the toes"
@@ -177168,8 +177817,8 @@
"val" : "UMLS:C4021312"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-05-29T01:54:18Z"
@@ -177182,13 +177831,13 @@
"meta" : {
"definition" : {
"val" : "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Joint contracture of the big toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Joint contracture of the hallux"
@@ -177197,8 +177846,8 @@
"val" : "UMLS:C4021311"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-06-02T01:39:18Z"
@@ -177211,14 +177860,14 @@
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023968"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-06-02T01:45:34Z"
@@ -177231,14 +177880,14 @@
"meta" : {
"definition" : {
"val" : "The interphalangeal joint of the big toe cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023967"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-06-02T01:45:34Z"
@@ -177251,14 +177900,14 @@
"meta" : {
"definition" : {
"val" : "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023966"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-06-02T01:45:34Z"
@@ -177271,30 +177920,30 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the epiphysis of the fifth metacarpal bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the long bone of little finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the long bone of pinkie finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the long bone of pinky finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023958"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-02T04:13:00Z"
@@ -177307,13 +177956,13 @@
"meta" : {
"definition" : {
"val" : "Absence of one or more epiphyses of the phalanges of the fingers.",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of fingers",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent epiphyses of the fingers"
@@ -177322,8 +177971,8 @@
"val" : "UMLS:C4021310"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T03:31:52Z"
@@ -177339,13 +177988,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Enlarged epiphyses of the fingers"
@@ -177357,8 +178006,8 @@
"val" : "UMLS:C1865036"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T03:31:52Z"
@@ -177377,7 +178026,7 @@
"meta" : {
"definition" : {
"val" : "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -177387,8 +178036,8 @@
"val" : "UMLS:C4021306"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T03:31:52Z"
@@ -177404,13 +178053,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Small epiphyses of the fingers"
@@ -177419,8 +178068,8 @@
"val" : "UMLS:C4021305"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T03:31:52Z"
@@ -177436,7 +178085,7 @@
"meta" : {
"definition" : {
"val" : "Congenital hypoplasia of one or more proximal phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -177445,7 +178094,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost finger bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short proximal phalanges"
@@ -177461,8 +178110,8 @@
"val" : "UMLS:C1860606"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:00:44Z"
@@ -177481,20 +178130,20 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of distal epiphysis of phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023956"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:21:32Z"
@@ -177509,14 +178158,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the middle hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023955"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:21:32Z"
@@ -177531,14 +178180,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023954"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:21:32Z"
@@ -177553,14 +178202,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023953"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:23:06Z"
@@ -177575,14 +178224,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023950"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:23:06Z"
@@ -177600,8 +178249,8 @@
"val" : "UMLS:C4023947"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:23:06Z"
@@ -177616,14 +178265,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023946"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:23:06Z"
@@ -177638,14 +178287,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023943"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:24:15Z"
@@ -177660,14 +178309,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023941"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:24:15Z"
@@ -177685,8 +178334,8 @@
"val" : "UMLS:C4023937"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:24:15Z"
@@ -177701,14 +178350,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the middle hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023936"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:24:15Z"
@@ -177723,14 +178372,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the innermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023933"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:25:12Z"
@@ -177745,14 +178394,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the innermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023930"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:25:12Z"
@@ -177765,14 +178414,14 @@
"meta" : {
"definition" : {
"val" : "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023926"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:25:12Z"
@@ -177787,14 +178436,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the innermost hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023925"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-06T04:25:12Z"
@@ -177807,18 +178456,18 @@
"meta" : {
"definition" : {
"val" : "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of the mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Gingivostomatitis",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D013280"
@@ -177832,8 +178481,8 @@
"val" : "UMLS:C0149704"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T09:48:56Z"
@@ -177846,7 +178495,7 @@
"meta" : {
"definition" : {
"val" : "A gap in the lower lip.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -177860,14 +178509,14 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Lower labial cleft",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1856026"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T09:50:34Z"
@@ -177880,7 +178529,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the salivary glands, the exocrine glands that produce saliva.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -177902,8 +178551,8 @@
"val" : "UMLS:C0149772"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T10:38:51Z"
@@ -177916,19 +178565,19 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the submaxillary glands",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023920"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T10:41:17Z"
@@ -177936,39 +178585,53 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010289",
- "lbl" : "Cleft of alveolar ridge of maxilla",
+ "lbl" : "Cleft maxillary alveolar ridge",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth.",
- "xrefs" : [ "HPO:mengelstad", "HPO:probinson" ]
+ "val" : "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "HPO_CONTRIBUTOR:mengelstad" ]
},
+ "comments" : [ "The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Alveolar cleft"
+ }, {
"pred" : "hasExactSynonym",
"val" : "Alveolar ridge cleft"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Cleft anterior maxilla",
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Cleft maxillary alveolus"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Cleft of alveolar ridge of maxilla"
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft of gum ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Notch of alveolar ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notch of gum ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Cleft of alveolar process",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Notch of alveolar process",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:445306000"
@@ -177980,47 +178643,14 @@
"val" : "UMLS:C4280386"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T10:47:29Z"
- } ]
- }
- }, {
- "id" : "http://purl.obolibrary.org/obo/HP_0010290",
- "lbl" : "Short hard palate",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).",
- "xrefs" : [ "PMID:19125428" ]
- },
- "comments" : [ "Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence." ],
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "Decreased length of hard palate",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
}, {
- "pred" : "hasRelatedSynonym",
- "val" : "Hypoplastic palate"
- }, {
- "pred" : "hasRelatedSynonym",
- "val" : "Short palate"
- } ],
- "xrefs" : [ {
- "val" : "UMLS:C1398301"
- }, {
- "val" : "UMLS:C4020772"
- }, {
- "val" : "UMLS:C4023918"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2009-07-12T11:28:44Z"
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
+ "val" : "HP:0410003"
} ]
}
}, {
@@ -178030,12 +178660,12 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the tongue.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Lingual aplasia/hypoplasia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023916"
@@ -178043,8 +178673,8 @@
"val" : "UMLS:C4280384"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T11:41:04Z"
@@ -178064,7 +178694,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Bifurcated tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Bilobed tongue"
@@ -178072,12 +178702,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cleft tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Forked tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -178086,7 +178716,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Snake tongue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:84557007"
@@ -178096,8 +178726,8 @@
"val" : "UMLS:C4255098"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T11:47:28Z"
@@ -178110,7 +178740,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of dentin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -178118,7 +178748,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal dentin",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -178126,7 +178756,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of dentine",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dentin anomaly"
@@ -178135,8 +178765,8 @@
"val" : "UMLS:C4021299"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T12:11:14Z"
@@ -178149,13 +178779,13 @@
"meta" : {
"definition" : {
"val" : "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Incomplete closure of the vertebral arch",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009436"
@@ -178165,8 +178795,8 @@
"val" : "UMLS:C0027794"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T12:58:04Z"
@@ -178179,7 +178809,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -178189,8 +178819,8 @@
"val" : "UMLS:C4023914"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T01:10:09Z"
@@ -178203,14 +178833,14 @@
"meta" : {
"definition" : {
"val" : "An outpouching of the spinal meninges.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023913"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T01:11:53Z"
@@ -178223,7 +178853,7 @@
"meta" : {
"definition" : {
"val" : "Absence (aplasia) of the sacrum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -178244,8 +178874,8 @@
"val" : "UMLS:C0344490"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T01:13:26Z"
@@ -178258,7 +178888,7 @@
"meta" : {
"definition" : {
"val" : "Reduced inferior to superior extent of the thorax.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -178272,8 +178902,8 @@
"val" : "UMLS:C0426789"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T02:13:42Z"
@@ -178286,7 +178916,7 @@
"meta" : {
"definition" : {
"val" : "The congenital absence of the sternum.",
- "xrefs" : [ "HPO:probinson", "PMID:3424262" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:3424262" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -178299,8 +178929,8 @@
"val" : "UMLS:C4023912"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T02:21:46Z"
@@ -178313,25 +178943,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the breasts.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small breasts",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped breasts",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023911"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T02:31:49Z"
@@ -178344,33 +178974,33 @@
"meta" : {
"definition" : {
"val" : "The presence of hypertrophy of the breast.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Breast enlargement",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Breasts enlarged",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Gigantomastia",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypertrophy of the breasts",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Large breast",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Macromastia",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C536821"
@@ -178388,8 +179018,8 @@
"val" : "UMLS:C2225524"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T02:34:30Z"
@@ -178402,25 +179032,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the diaphragm.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent/small diaprhagm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped diaprhagm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023910"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-12T02:41:58Z"
@@ -178433,25 +179063,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the abdominal musculature.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Absent/small abdominal wall muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped abdominal wall muscles",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-14T11:51:46Z"
@@ -178459,35 +179089,41 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010322",
- "lbl" : "Abnormality of the 5th toe",
+ "lbl" : "Abnormal fifth toe morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "An anomaly of the little toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormal 5th toe morphology"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of the 5th toe"
+ }, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023905"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:37:12Z"
@@ -178502,24 +179138,24 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:41:49Z"
@@ -178534,24 +179170,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the little toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinkie toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the pinky toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023892"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:41:49Z"
@@ -178566,28 +179202,28 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent/small pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023891"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:41:49Z"
@@ -178605,24 +179241,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Displacement of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Displacement of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Displacement of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021291"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:41:49Z"
@@ -178635,7 +179271,7 @@
"meta" : {
"definition" : {
"val" : "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -178646,8 +179282,8 @@
"val" : "UMLS:C4021290"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:41:49Z"
@@ -178662,28 +179298,28 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small little toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pinkie toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Absent/small pinky toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pinky toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023867"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178696,31 +179332,31 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of one or more phalanges of the fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved little toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved phalanges of the 5th toe"
}, {
"pred" : "hasExactSynonym",
"val" : "Curved pinkie toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Curved pinky toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021276"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178733,23 +179369,23 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of one or more phalanx of little toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the bones of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the bones of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the bones of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Duplication of the phalanges of the fifth toe"
@@ -178761,8 +179397,8 @@
"val" : "UMLS:C4020903"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178777,24 +179413,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023862"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178809,24 +179445,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the middle bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023861"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178841,24 +179477,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023860"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-16T11:52:18Z"
@@ -178871,12 +179507,12 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the interventricular septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal interventricular septum morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the ventricular septum"
@@ -178890,8 +179526,8 @@
"val" : "UMLS:C4021264"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-27T11:59:56Z"
@@ -178907,13 +179543,13 @@
"meta" : {
"definition" : {
"val" : "A congenital anomaly characterized by the presence of supernumerary fingers or toes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "More than five fingers or toes on hands or feet",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4103"
@@ -178925,8 +179561,8 @@
"val" : "UMLS:C0152427"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-29T01:39:27Z"
@@ -178951,26 +179587,26 @@
"meta" : {
"definition" : {
"val" : "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Notched thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Split thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023824"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-07-29T04:29:30Z"
@@ -178983,25 +179619,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the spleen.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small spleen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped spleen",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023823"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-14T10:48:29Z"
@@ -179014,15 +179650,15 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the female genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Abnormality of the female internal or external genitalia." ],
"xrefs" : [ {
"val" : "UMLS:C4023820"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T08:32:09Z"
@@ -179035,7 +179671,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the male genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -179050,8 +179686,8 @@
"val" : "UMLS:C4023819"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T08:33:20Z"
@@ -179064,25 +179700,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the ovary.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small ovary",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped ovary",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023818"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T08:38:35Z"
@@ -179095,25 +179731,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the testes.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small testes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped testes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023817"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T09:28:46Z"
@@ -179126,13 +179762,13 @@
"meta" : {
"definition" : {
"val" : "The presence of more than two testes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra testes",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Polyorchidism"
@@ -179143,8 +179779,8 @@
"val" : "UMLS:C0266430"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T09:34:18Z"
@@ -179157,14 +179793,14 @@
"meta" : {
"definition" : {
"val" : "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023815"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T09:48:34Z"
@@ -179177,7 +179813,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased excretion of porphyrins in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme." ],
"xrefs" : [ {
@@ -179186,8 +179822,8 @@
"val" : "UMLS:C0151861"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T09:57:34Z"
@@ -179200,25 +179836,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small bladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped bladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023813"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-15T10:09:48Z"
@@ -179231,13 +179867,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal increase in size of the upper limbs (due to an increase of the size of cells).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of upper limb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:298745009"
@@ -179245,8 +179881,8 @@
"val" : "UMLS:C0575518"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-16T09:23:57Z"
@@ -179259,14 +179895,14 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased length of the metacarpal bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elongated long bone of hand",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased length of metacarpals"
@@ -179275,8 +179911,8 @@
"val" : "UMLS:C4021260"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-17T10:25:37Z"
@@ -179289,14 +179925,14 @@
"meta" : {
"definition" : {
"val" : "Abnormal increase in size of the lower limbs (due to an increase of the size of cells).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023803"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-17T11:08:38Z"
@@ -179309,14 +179945,14 @@
"meta" : {
"definition" : {
"val" : "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023802"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T09:44:04Z"
@@ -179329,21 +179965,21 @@
"meta" : {
"definition" : {
"val" : "A bending or abnormal curvature of the fibula.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A developmental defect with posteromedial fibular angulation." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bowed calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023801"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T09:45:18Z"
@@ -179356,21 +179992,21 @@
"meta" : {
"definition" : {
"val" : "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplicated calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3276742"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T09:45:58Z"
@@ -179383,25 +180019,25 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase in the length of the tibia.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased length of shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased length of shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021864"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T09:46:37Z"
@@ -179414,14 +180050,14 @@
"meta" : {
"definition" : {
"val" : "An ability of the toe joints to move beyond their normal range of motion.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023798"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T10:15:12Z"
@@ -179434,7 +180070,7 @@
"meta" : {
"definition" : {
"val" : "Toes that appear disproportionately long compared to the foot.",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"comments" : [ "This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -179455,8 +180091,8 @@
"val" : "UMLS:C3150613"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T10:40:43Z"
@@ -179469,7 +180105,7 @@
"meta" : {
"definition" : {
"val" : "Calcification within the adrenal glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts." ],
"xrefs" : [ {
@@ -179478,8 +180114,8 @@
"val" : "UMLS:C0271750"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T03:34:26Z"
@@ -179492,14 +180128,14 @@
"meta" : {
"definition" : {
"val" : "Deposition of calcium salts in the pituitary gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023797"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T04:09:21Z"
@@ -179512,7 +180148,7 @@
"meta" : {
"definition" : {
"val" : "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D006964"
@@ -179522,8 +180158,8 @@
"val" : "UMLS:C0020506"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T04:14:54Z"
@@ -179536,22 +180172,22 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the thymus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small thymus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped thymus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Thymic hypoplasia or aplasia",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3278004"
@@ -179559,8 +180195,8 @@
"val" : "UMLS:C4023796"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-09-19T04:21:24Z"
@@ -179573,7 +180209,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal elevation of phytanic acid.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things." ],
"synonyms" : [ {
@@ -179588,8 +180224,8 @@
"val" : "UMLS:C4023786"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-10-20T07:19:29Z"
@@ -179602,14 +180238,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the proximal epiphysis of the femur.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the proximal femoral epiphysis"
@@ -179618,7 +180254,7 @@
"val" : "UMLS:C4021252"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179635,13 +180271,13 @@
"meta" : {
"definition" : {
"val" : "The presence of developmental dysplasia of the femoral head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormality of femoral head development",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dysplastic femoral head"
@@ -179652,7 +180288,7 @@
"val" : "UMLS:C4280377"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179668,13 +180304,13 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021862"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179688,13 +180324,13 @@
"meta" : {
"definition" : {
"val" : "Increased size of epiphyses.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Large epiphyses"
@@ -179706,7 +180342,7 @@
"val" : "UMLS:C1833328"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179731,7 +180367,7 @@
"val" : "UMLS:C1841685"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179745,19 +180381,19 @@
"meta" : {
"definition" : {
"val" : "Reduction in the size or volume of epiphyses.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1846803"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179774,24 +180410,24 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the proximal epiphysis of the tibia.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of innermost shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of innermost shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023782"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179800,20 +180436,23 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010593",
- "lbl" : "Abnormality of fibular epiphyses",
+ "lbl" : "Abnormal fibular epiphysis morphology",
"type" : "CLASS",
"meta" : {
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of fibular epiphyses"
+ }, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023780"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179827,19 +180466,19 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the proximal epiphysis of the fibula.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the innermost end part of calf bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023779"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179853,19 +180492,19 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the proximal epiphysis of the humerus.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023775"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -179879,13 +180518,13 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the skeleton.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Skeletal tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -179907,8 +180546,8 @@
"val" : "UMLS:C4020771"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-25T08:54:46Z"
@@ -179921,12 +180560,12 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Adenohypophysis",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D010903"
@@ -179938,8 +180577,8 @@
"val" : "UMLS:C4023771"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-12-05T03:03:17Z"
@@ -179952,13 +180591,13 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the anterior pituitary gland.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped pituitary gland",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypoplasia of the pituitary gland"
@@ -179969,8 +180608,8 @@
"val" : "UMLS:C1859775"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-12-05T03:04:48Z"
@@ -179981,18 +180620,21 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0010630",
- "lbl" : "Abnormality of metatarsal epiphysis",
+ "lbl" : "Abnormal metatarsal epiphysis morphology",
"type" : "CLASS",
"meta" : {
"definition" : {
"val" : "Any abnormality of a metatarsal bone epiphysis.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of end part of long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormality of metatarsal epiphysis"
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the epiphyses of the metatarsals"
@@ -180001,8 +180643,8 @@
"val" : "UMLS:C4021248"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-12-06T05:58:36Z"
@@ -180015,20 +180657,20 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the epiphyses of the feet.",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the foot bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023769"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-12-06T06:00:04Z"
@@ -180041,14 +180683,14 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).",
- "xrefs" : [ "HPO:curators" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023763"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2009-12-17T04:56:17Z"
@@ -180061,14 +180703,14 @@
"meta" : {
"definition" : {
"val" : "Any abnormal increase or reduction in skin elasticity.",
- "xrefs" : [ "DDD:cmoss" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-1773-4011" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023760"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-23T11:42:34Z"
@@ -180081,23 +180723,23 @@
"meta" : {
"definition" : {
"val" : "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Depressed nasal alae",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Flat nasal alar cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023759"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-25T10:01:47Z"
@@ -180110,7 +180752,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180120,8 +180762,8 @@
"val" : "UMLS:C4023758"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-25T10:19:40Z"
@@ -180134,7 +180776,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Dura mater.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180144,8 +180786,8 @@
"val" : "UMLS:C4023757"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-25T10:29:40Z"
@@ -180158,7 +180800,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of an epiphysis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180167,14 +180809,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of the end part of a bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021246"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-25T09:43:04Z"
@@ -180187,7 +180829,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of any bone of the skeleton of hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180199,14 +180841,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of the hand bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021244"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-25T05:18:19Z"
@@ -180222,15 +180864,15 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum." ],
"xrefs" : [ {
"val" : "UMLS:C4023752"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-02-26T08:02:38Z"
@@ -180243,18 +180885,18 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormal curvature of the vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal curve of the backbone",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal curve of the spine",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal curving of the spine"
@@ -180269,7 +180911,7 @@
"val" : "UMLS:C4023747"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -180283,7 +180925,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of any bone of the skeleton of foot.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180291,7 +180933,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of foot bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Abnormal ossification involving bones of the feet"
@@ -180304,7 +180946,7 @@
"val" : "UMLS:C4280367"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "pred" : "http://purl.org/dc/elements/1.1/creator",
"val" : "sandra1"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
@@ -180324,7 +180966,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal deviation from normal levels of immunoglobulins in blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "'has part' some \n(amount and ('inheres in' some \n(IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal))" ],
"synonyms" : [ {
@@ -180336,7 +180978,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal serum immunoglobulin levels",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal serum level of immunoglobulin"
@@ -180348,8 +180990,8 @@
"val" : "UMLS:C1855755"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-03-22T08:17:49Z"
@@ -180365,7 +181007,7 @@
"meta" : {
"definition" : {
"val" : "An increased level of gamma globulin (immunoglobulin) in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM." ],
"synonyms" : [ {
@@ -180414,8 +181056,8 @@
"val" : "UMLS:C2048011"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-03-22T08:20:07Z"
@@ -180437,7 +181079,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the texture of the hair.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -180447,17 +181089,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of hair consistency",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of hair curl pattern",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of hair volume",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023722"
@@ -180469,8 +181111,8 @@
"val" : "UMLS:C4073290"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-20T09:41:53Z"
@@ -180489,13 +181131,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the distribution of hair growth.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal distribution of hair",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -180505,8 +181147,8 @@
"val" : "UMLS:C4023721"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-20T09:53:15Z"
@@ -180519,20 +181161,20 @@
"meta" : {
"definition" : {
"val" : "A developmental defect characterized by absence of the retina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent retina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023718"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-20T11:09:59Z"
@@ -180545,7 +181187,7 @@
"meta" : {
"definition" : {
"val" : "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.",
- "xrefs" : [ "HPO:probinson", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19125433" ]
},
"comments" : [ "This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -180559,7 +181201,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short metatarsal bone"
@@ -180572,14 +181214,14 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Short metatarsal bones",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849020"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-22T04:30:18Z"
@@ -180609,14 +181251,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small toe bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023715"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-22T04:33:06Z"
@@ -180641,8 +181283,8 @@
"val" : "UMLS:C4021230"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-23T09:35:56Z"
@@ -180655,7 +181297,7 @@
"meta" : {
"definition" : {
"val" : "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -180670,7 +181312,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Absent toes",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Aplasia of the toes"
@@ -180679,8 +181321,8 @@
"val" : "UMLS:C3553754"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-23T03:58:25Z"
@@ -180702,14 +181344,14 @@
"meta" : {
"definition" : {
"val" : "Deposition of calcium salts in a tissue or location in which calcification does not normally occur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C3806226"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-27T09:52:59Z"
@@ -180722,14 +181364,14 @@
"meta" : {
"definition" : {
"val" : "The presence of an abnormally large pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Large pelvis",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -180741,8 +181383,8 @@
"val" : "UMLS:C4072882"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-04-29T11:03:39Z"
@@ -180755,7 +181397,7 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -180765,7 +181407,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Uterine tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -180784,8 +181426,8 @@
"val" : "UMLS:C0042138"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-04T09:35:15Z"
@@ -180798,7 +181440,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a neoplasm of the urinary system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -180816,8 +181458,8 @@
"val" : "UMLS:C0042076"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-04T09:45:25Z"
@@ -180830,13 +181472,13 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Genital tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -180853,8 +181495,8 @@
"val" : "UMLS:C4020767"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-04T09:47:50Z"
@@ -180866,8 +181508,8 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any structural abormality of the fifth cranial nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "val" : "Any structural abnormality of the fifth cranial nerve.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180883,8 +181525,8 @@
"val" : "UMLS:C4021226"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-10T03:51:21Z"
@@ -180897,12 +181539,12 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the eleventh cranial nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranial nerve XI",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the accessory nerve"
@@ -180911,8 +181553,8 @@
"val" : "UMLS:C4021225"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-10T03:54:53Z"
@@ -180925,16 +181567,16 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the twelfth cranial nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranial nerve 12",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cranial nerve xii",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the hypoglossal nerve"
@@ -180943,8 +181585,8 @@
"val" : "UMLS:C4021224"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-10T03:58:00Z"
@@ -180957,7 +181599,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -180967,8 +181609,8 @@
"val" : "UMLS:C4021223"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-10T04:04:55Z"
@@ -180981,7 +181623,7 @@
"meta" : {
"definition" : {
"val" : "An incomplete closure of the abdominal wall.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -180995,8 +181637,8 @@
"val" : "UMLS:C0238577"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-03T09:55:15Z"
@@ -181009,7 +181651,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal level of a circulating protein in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181033,8 +181675,8 @@
"val" : "UMLS:C4023679"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-07T01:51:12Z"
@@ -181047,7 +181689,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -181060,8 +181702,8 @@
"val" : "UMLS:C0266785"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-13T08:24:04Z"
@@ -181074,14 +181716,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023673"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-11T02:53:04Z"
@@ -181094,7 +181736,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of phenylalanine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181104,8 +181746,8 @@
"val" : "UMLS:C4023672"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-11T03:23:30Z"
@@ -181118,7 +181760,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a serine family amino acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181128,8 +181770,8 @@
"val" : "UMLS:C4023671"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-30T05:21:41Z"
@@ -181142,14 +181784,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of glycine in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023670"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-30T05:27:24Z"
@@ -181162,14 +181804,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023667"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-02T04:40:57Z"
@@ -181182,7 +181824,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of methionine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181192,8 +181834,8 @@
"val" : "UMLS:C4023665"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-02T05:15:22Z"
@@ -181206,14 +181848,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023664"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-03T04:30:22Z"
@@ -181226,7 +181868,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of lysine in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181236,8 +181878,8 @@
"val" : "UMLS:C4023660"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:05:55Z"
@@ -181250,7 +181892,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of arginine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Arginine is a charged, aliphatic amino acid." ],
"synonyms" : [ {
@@ -181261,8 +181903,8 @@
"val" : "UMLS:C4023659"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:25:05Z"
@@ -181275,13 +181917,13 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of valine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood valine concentration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:C536524"
@@ -181291,8 +181933,8 @@
"val" : "UMLS:C0268573"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:44:27Z"
@@ -181305,14 +181947,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of leucine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Normal leucine blood levels are around 120-160 micromole per liter." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood leucine concentration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:24013007"
@@ -181320,8 +181962,8 @@
"val" : "UMLS:C0268576"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:45:56Z"
@@ -181334,14 +181976,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of isoleucine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023658"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:47:47Z"
@@ -181354,21 +181996,21 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of isoleucine in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "Normal isoleucine blood levels are around 60-80 micromole per liter." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood isoleucine concentration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023657"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:49:42Z"
@@ -181381,7 +182023,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal circulation of valine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181391,8 +182033,8 @@
"val" : "UMLS:C4023656"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T08:51:14Z"
@@ -181405,14 +182047,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of tyrosine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023653"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-08T09:13:53Z"
@@ -181425,7 +182067,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of divalent inorganic cation homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181435,8 +182077,8 @@
"val" : "UMLS:C4023648"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-06T07:47:18Z"
@@ -181449,7 +182091,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of cation homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181459,8 +182101,8 @@
"val" : "UMLS:C4023646"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-06T10:36:04Z"
@@ -181473,7 +182115,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of monovalent inorganic cation homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181483,8 +182125,8 @@
"val" : "UMLS:C4023645"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-06T10:38:38Z"
@@ -181497,7 +182139,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of sodium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -181515,8 +182157,8 @@
"val" : "UMLS:C4023644"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-06T10:40:20Z"
@@ -181529,7 +182171,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of a nucleobase metabolic process.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine." ],
"synonyms" : [ {
@@ -181542,8 +182184,8 @@
"val" : "UMLS:C4023643"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-06T10:46:17Z"
@@ -181556,7 +182198,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the upper urinary tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters." ],
"synonyms" : [ {
@@ -181568,8 +182210,8 @@
"val" : "UMLS:C4023641"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T11:37:29Z"
@@ -181582,15 +182224,15 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lower urinary tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra." ],
"xrefs" : [ {
"val" : "UMLS:C4023640"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T11:39:17Z"
@@ -181603,7 +182245,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nasal skeleton.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -181612,37 +182254,37 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of the nasal skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the bones of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Distortion of the bones of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Distortion of the nasal skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the bones of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023639"
@@ -181650,8 +182292,8 @@
"val" : "UMLS:C4280361"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T02:19:38Z"
@@ -181664,7 +182306,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the external nose.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -181674,17 +182316,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of the external nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the external nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the external nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2164724"
@@ -181694,8 +182336,8 @@
"val" : "UMLS:C4280360"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T02:21:10Z"
@@ -181708,7 +182350,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the renal pelvis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -181718,8 +182360,8 @@
"val" : "UMLS:C4023633"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T03:33:55Z"
@@ -181732,7 +182374,7 @@
"meta" : {
"definition" : {
"val" : "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.",
- "xrefs" : [ "HPO:probinson", "PMID:16100637" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:16100637" ]
},
"comments" : [ "The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637)." ],
"synonyms" : [ {
@@ -181762,8 +182404,8 @@
"val" : "UMLS:C2317073"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-16T03:36:31Z"
@@ -181776,7 +182418,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the fourth ventricle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata." ],
"synonyms" : [ {
@@ -181787,8 +182429,8 @@
"val" : "UMLS:C4023630"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-17T12:58:00Z"
@@ -181801,18 +182443,18 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the right-sided structures of the heart.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Hypoplastic right heart syndrome",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped right heart",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:268180007"
@@ -181824,8 +182466,8 @@
"val" : "UMLS:C0344963"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-17T03:31:37Z"
@@ -181838,15 +182480,15 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18." ],
"xrefs" : [ {
"val" : "UMLS:C4023624"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-27T08:05:00Z"
@@ -181859,7 +182501,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of phytanic acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15." ],
"synonyms" : [ {
@@ -181870,8 +182512,8 @@
"val" : "UMLS:C4023623"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-27T08:07:48Z"
@@ -181884,7 +182526,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a fatty acid anion in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A fatty acid anion is the conjugate base of a fatty acid." ],
"synonyms" : [ {
@@ -181895,8 +182537,8 @@
"val" : "UMLS:C4021209"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-27T09:17:48Z"
@@ -181909,7 +182551,7 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of carnitine in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"comments" : [ "L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation." ],
"synonyms" : [ {
@@ -181922,8 +182564,8 @@
"val" : "UMLS:C4021855"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-01-27T09:19:42Z"
@@ -181936,7 +182578,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of myeloid leukocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage." ],
"synonyms" : [ {
@@ -181947,8 +182589,8 @@
"val" : "UMLS:C4023618"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-06T09:24:46Z"
@@ -181961,16 +182603,16 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.",
- "xrefs" : [ "HPO:probinson", "MP:0002458" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0002458" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal number of B cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal numbers of B cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of B cell count"
@@ -181982,8 +182624,8 @@
"val" : "UMLS:C4021208"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-06T09:38:18Z"
@@ -181996,7 +182638,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal decrease from the normal count of B cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Plasma B cells differentiate from B cells and secrete large amounts of antibodies." ],
"synonyms" : [ {
@@ -182020,8 +182662,8 @@
"val" : "UMLS:C1855067"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-06T09:44:11Z"
@@ -182037,14 +182679,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.",
- "xrefs" : [ "HPO:probinson", "PMID:28691037" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:28691037" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023617"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-06T10:31:46Z"
@@ -182057,14 +182699,14 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the immune system.",
- "xrefs" : [ "HPO:probinson", "MP:0001790" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0001790" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023616"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-07T04:28:55Z"
@@ -182077,14 +182719,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the morphology or counts of the cells that make up the immune system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023612"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-08T12:49:47Z"
@@ -182097,7 +182739,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the abdominal musculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182107,8 +182749,8 @@
"val" : "UMLS:C4023608"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-09T08:05:11Z"
@@ -182121,15 +182763,15 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A dicarboxylic acid is an oxoacid containing two carboxy groups." ],
"xrefs" : [ {
"val" : "UMLS:C4023606"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-10T02:01:02Z"
@@ -182142,14 +182784,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023605"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-10T02:20:42Z"
@@ -182162,7 +182804,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This term may be merged with Increased bone density in the future or made obsolete." ],
"synonyms" : [ {
@@ -182188,8 +182830,8 @@
"val" : "UMLS:C0029464"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-13T11:57:32Z"
@@ -182217,13 +182859,13 @@
"meta" : {
"definition" : {
"val" : "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Harder, denser, fracture-prone bones",
- "xrefs" : [ "ORCID:0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Albers-Schoenberg disease"
@@ -182247,8 +182889,8 @@
"val" : "UMLS:C0029454"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sdoelken"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-13T11:58:36Z"
@@ -182261,7 +182903,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182286,8 +182928,8 @@
"val" : "UMLS:C4021205"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-16T08:46:49Z"
@@ -182306,12 +182948,12 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the neck musculature.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of cervical musculature",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -182325,8 +182967,8 @@
"val" : "UMLS:C4023601"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-19T11:15:01Z"
@@ -182339,14 +182981,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal concentration of a polysaccharide in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023600"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-21T09:46:11Z"
@@ -182359,15 +183001,15 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal concentration of a carbohydrate in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them." ],
"xrefs" : [ {
"val" : "UMLS:C4023599"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-21T09:47:27Z"
@@ -182380,15 +183022,15 @@
"meta" : {
"definition" : {
"val" : "Abnormality of glucose homeostasis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell." ],
"xrefs" : [ {
"val" : "UMLS:C4023598"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-21T10:37:21Z"
@@ -182401,7 +183043,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the concentration of glucose in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182411,8 +183053,8 @@
"val" : "UMLS:C4023597"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-21T10:41:13Z"
@@ -182425,7 +183067,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality in a cellular process.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182435,8 +183077,8 @@
"val" : "UMLS:C4023595"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-22T07:05:50Z"
@@ -182452,7 +183094,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the cell cycle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -182463,8 +183105,8 @@
"val" : "UMLS:C4023594"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-22T07:09:31Z"
@@ -182477,14 +183119,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of chromosome condensation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023593"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-22T07:19:30Z"
@@ -182497,14 +183139,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the metabolism of mucopolysaccharide.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023592"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-23T07:58:02Z"
@@ -182517,7 +183159,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -182554,8 +183196,8 @@
"val" : "UMLS:C4023588"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-01T07:52:06Z"
@@ -182568,7 +183210,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal functionality of the cardiovascular system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182578,8 +183220,8 @@
"val" : "UMLS:C4023587"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-03T10:23:19Z"
@@ -182592,25 +183234,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the vagina.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small vagina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped vagina",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023586"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-02T06:17:46Z"
@@ -182623,7 +183265,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the fallopian tube.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus." ],
"synonyms" : [ {
@@ -182634,8 +183276,8 @@
"val" : "UMLS:C0281842"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-02T06:36:01Z"
@@ -182648,7 +183290,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -182660,8 +183302,8 @@
"val" : "UMLS:C4023585"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-03T10:25:21Z"
@@ -182674,13 +183316,13 @@
"meta" : {
"definition" : {
"val" : "The presence of hemorrhage within the body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Internal bleeding",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -182690,8 +183332,8 @@
"val" : "UMLS:C1390214"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-03T10:26:26Z"
@@ -182704,7 +183346,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the homeostasis (concentration) of transition element cation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182714,8 +183356,8 @@
"val" : "UMLS:C4023584"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-04T07:59:31Z"
@@ -182728,14 +183370,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the homeostasis (concentration) of iron cation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023583"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-04T08:01:07Z"
@@ -182748,7 +183390,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the regulation of body fluids.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -182758,7 +183400,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Fluid imbalance",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:1860003"
@@ -182768,8 +183410,8 @@
"val" : "UMLS:C2364164"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-05T09:09:27Z"
@@ -182782,7 +183424,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the cortex of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182792,8 +183434,8 @@
"val" : "UMLS:C4023580"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-06T11:31:39Z"
@@ -182806,7 +183448,7 @@
"meta" : {
"definition" : {
"val" : "An altered ability of the kidneys to void urine and/or specific substances.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MP:0005555"
@@ -182814,8 +183456,8 @@
"val" : "UMLS:C4023579"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-06T12:28:55Z"
@@ -182828,15 +183470,15 @@
"meta" : {
"definition" : {
"val" : "A decreased rate of urine production.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A reduction in the overall amount of urine output." ],
"xrefs" : [ {
"val" : "UMLS:C3887784"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-06T12:33:12Z"
@@ -182849,7 +183491,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of renal absorption.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182862,8 +183504,8 @@
"val" : "UMLS:C4023578"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-06T12:38:04Z"
@@ -182876,7 +183518,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the intrahepatic bile duct.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -182886,8 +183528,8 @@
"val" : "UMLS:C4023577"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-07T07:54:11Z"
@@ -182900,25 +183542,25 @@
"meta" : {
"definition" : {
"val" : "Aplasia or developmental hypoplasia of the cervical vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small cervical spine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped cervical spine",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023576"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-09T08:29:34Z"
@@ -182931,7 +183573,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of potassium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -182945,8 +183587,8 @@
"val" : "UMLS:C4023575"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-09T11:00:32Z"
@@ -182959,13 +183601,13 @@
"meta" : {
"definition" : {
"val" : "A localized form of periodontitis.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Limited area of gum disease",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasBroadSynonym",
@@ -182974,7 +183616,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Localized gum disease",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -182986,7 +183628,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Localized periodontal disease",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023559"
@@ -182994,8 +183636,8 @@
"val" : "UMLS:C4280344"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-10T12:26:35Z"
@@ -183008,25 +183650,25 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the structure or composition of the teeth.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of tooth part",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of tooth structure",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023557"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-10T01:44:04Z"
@@ -183039,7 +183681,7 @@
"meta" : {
"definition" : {
"val" : "The presence of one or more teeth additional to the normal number.",
- "xrefs" : [ "HPO:ibailleulforestier", "PMID:31468724" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017", "PMID:31468724" ]
},
"comments" : [ "Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -183047,11 +183689,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Extra teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperdontia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -183060,35 +183702,35 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased tooth count",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Supernumerary teeth"
}, {
"pred" : "hasExactSynonym",
"val" : "Supplemental dentition",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Supplemental teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Tooth, supernumerary"
}, {
"pred" : "hasNarrowSynonym",
"val" : "Supernumary dentition",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Supernumary teeth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "More teeth than normal",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:D014096"
@@ -183102,8 +183744,8 @@
"val" : "UMLS:C0040457"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-10T02:52:19Z"
@@ -183121,20 +183763,20 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absence of tooth root",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Agenesis of tooth root",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia of tooth root",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing tooth root",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -183143,11 +183785,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Teeth without roots",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Tooth with dentin dysplasia type i",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:C538215"
@@ -183159,8 +183801,8 @@
"val" : "UMLS:C4082200"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-10T03:56:41Z"
@@ -183173,7 +183815,7 @@
"meta" : {
"definition" : {
"val" : "A localized form of developmental hypoplasia of the dental enamel.",
- "xrefs" : [ "HPO:ibailleulforestier" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9338-3017" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -183186,7 +183828,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Localized hypoplasia of tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasRelatedSynonym",
@@ -183194,7 +183836,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Localized dysplasia of tooth enamel",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023550"
@@ -183202,8 +183844,8 @@
"val" : "UMLS:C4280339"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-10T05:13:09Z"
@@ -183216,7 +183858,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the outflow tract of the left ventricle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -183228,8 +183870,8 @@
"val" : "UMLS:C0344916"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-05T04:15:50Z"
@@ -183242,13 +183884,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.",
- "xrefs" : [ "HPO:probinson", "PMID:15897415" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:15897415" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Recurrent inflammation of tonsils",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D014069"
@@ -183258,8 +183900,8 @@
"val" : "UMLS:C0040425"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-10T07:46:38Z"
@@ -183272,14 +183914,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the concentration or function of circulating immune proteins.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023536"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T08:58:47Z"
@@ -183292,7 +183934,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MP:0003009"
@@ -183300,8 +183942,8 @@
"val" : "UMLS:C4023534"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T09:07:24Z"
@@ -183314,13 +183956,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the nasal dorsum, also known as the nasal ridge.",
- "xrefs" : [ "HPO:probinson", "PMID:19152422" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19152422" ]
},
"comments" : [ "The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the nasal dorsum"
@@ -183328,7 +183970,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of the nasal ridge"
@@ -183340,45 +183982,45 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Crooked dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Crooked nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Crooked nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the dorsum of the nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the dorsum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal dorsum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of the nasal ridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021202"
@@ -183386,8 +184028,8 @@
"val" : "UMLS:C4280332"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T09:37:47Z"
@@ -183400,17 +184042,17 @@
"meta" : {
"definition" : {
"val" : "Any morphological abnormality of the skin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal skin morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal skin structure",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4133"
@@ -183418,8 +184060,8 @@
"val" : "UMLS:C4023528"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T10:03:23Z"
@@ -183432,7 +184074,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the physiological function of the skin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -183443,8 +184085,8 @@
"val" : "UMLS:C4023527"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T10:05:14Z"
@@ -183457,7 +184099,7 @@
"meta" : {
"definition" : {
"val" : "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -183489,8 +184131,8 @@
"val" : "UMLS:C3875321"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T10:06:04Z"
@@ -183509,7 +184151,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the morphology of the epidermis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -183519,8 +184161,8 @@
"val" : "UMLS:C4023526"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-12T10:11:28Z"
@@ -183533,25 +184175,25 @@
"meta" : {
"definition" : {
"val" : "Absence or developmental hypoplasia of the sweat glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small sweat glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped sweat glands",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023520"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-19T02:01:50Z"
@@ -183564,20 +184206,20 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal skin appendage",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023518"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-19T06:25:34Z"
@@ -183590,7 +184232,7 @@
"meta" : {
"definition" : {
"val" : "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood." ],
"synonyms" : [ {
@@ -183601,8 +184243,8 @@
"val" : "UMLS:C4021201"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-25T08:57:09Z"
@@ -183615,7 +184257,7 @@
"meta" : {
"definition" : {
"val" : "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.",
- "xrefs" : [ "HPO:probinson", "PMID:21218094" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21218094" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -183628,8 +184270,8 @@
"val" : "UMLS:C0266019"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-25T09:02:50Z"
@@ -183642,39 +184284,39 @@
"meta" : {
"definition" : {
"val" : "An abnormal shape of occiput.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormal shape of posterior head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Abnormal shape of the back of the head",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of posterior cranium",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of posterior skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of the back of the skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023459"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-03T10:14:06Z"
@@ -183687,32 +184329,32 @@
"meta" : {
"definition" : {
"val" : "An abnormal shape of the frontal part of the head.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal morphology of the frontal region",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of the forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dysmorphic forehead",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Dysmorphic frontal region",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023458"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-03T10:26:03Z"
@@ -183733,16 +184375,16 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased height of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased length of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased vertical dimension of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -183750,39 +184392,39 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Short facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical Facial Deficiency",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical deficiency of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical facial insufficiency",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical hypoplasia of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Vertical insufficiency of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Vertical shortening of face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023457"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-07T09:01:18Z"
@@ -183797,8 +184439,8 @@
"val" : "UMLS:C4023437"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-30T02:51:16Z"
@@ -183811,7 +184453,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal amount of hydrogencarbonate in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -183822,8 +184464,8 @@
"val" : "UMLS:C4023435"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-30T02:57:55Z"
@@ -183836,7 +184478,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of calcium concentration in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -183853,8 +184495,8 @@
"val" : "UMLS:C4023434"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-30T03:27:02Z"
@@ -183867,14 +184509,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the hindbrain, also known as the rhombencephalon.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The hindbrain consists of two main structures: The pons and the cerebellum." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of hindbrain",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of hindbrain morphology"
@@ -183886,8 +184528,8 @@
"val" : "UMLS:C4021170"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-01-01T01:22:36Z"
@@ -183900,7 +184542,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -183910,8 +184552,8 @@
"val" : "UMLS:C4023432"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-01-01T01:24:14Z"
@@ -183924,7 +184566,7 @@
"meta" : {
"definition" : {
"val" : "A morphological abnormality of a digit, i.e., of a finger or toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -183942,8 +184584,8 @@
"val" : "UMLS:C3550704"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-11T07:16:22Z"
@@ -183976,8 +184618,8 @@
"val" : "UMLS:C0265624"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-11T11:20:59Z"
@@ -183990,13 +184632,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of size or shape of the long bones.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of long bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of long bone morphology"
@@ -184008,8 +184650,8 @@
"val" : "UMLS:C4021165"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-12T02:31:03Z"
@@ -184031,7 +184673,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the fontanelle.",
- "xrefs" : [ "HPO:probinson", "PMID:12825844" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:12825844" ]
},
"comments" : [ "The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life." ],
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
@@ -184043,8 +184685,8 @@
"val" : "UMLS:C4020755"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-25T02:34:36Z"
@@ -184057,7 +184699,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184080,8 +184722,8 @@
"val" : "UMLS:C4023412"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-25T03:33:56Z"
@@ -184100,14 +184742,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of mouth size",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023408"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-26T11:00:17Z"
@@ -184120,7 +184762,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the outline, configuration, or contour of the mouth.",
- "xrefs" : [ "DDD:jhurst" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_jhurst" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184130,12 +184772,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of mouth shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Unusual mouth shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4874"
@@ -184143,8 +184785,8 @@
"val" : "UMLS:C4023407"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-26T01:05:23Z"
@@ -184157,23 +184799,23 @@
"meta" : {
"definition" : {
"val" : "Increased width of the upper lip.",
- "xrefs" : [ "DDD:jhurst" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_jhurst" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Elongation of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased height of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased vertical length of upper lip",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -184183,8 +184825,8 @@
"val" : "UMLS:C3151495"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-02-26T01:58:08Z"
@@ -184197,7 +184839,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the skin that is not localized to any one particular region.",
- "xrefs" : [ "DDD:cmoss" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-1773-4011" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184212,8 +184854,8 @@
"val" : "UMLS:C4021157"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-01T01:55:07Z"
@@ -184226,7 +184868,7 @@
"meta" : {
"definition" : {
"val" : "A lesion of the skin that is located in a specific region rather than being generalized.",
- "xrefs" : [ "DDD:cmoss" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-1773-4011" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -184241,8 +184883,8 @@
"val" : "UMLS:C0850826"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-01T02:37:43Z"
@@ -184255,7 +184897,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal amount of hair.",
- "xrefs" : [ "DDD:cmoss" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-1773-4011" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184271,8 +184913,8 @@
"val" : "UMLS:C4023401"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-01T08:46:57Z"
@@ -184291,14 +184933,14 @@
"meta" : {
"definition" : {
"val" : "Absence of the inner ear due to a developmental defect.",
- "xrefs" : [ "DDD:dfitzpatrick" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dfitzpatrick" ]
},
"comments" : [ "Aplasia of the inner ear is usually diagnosed on MR or CT imaging." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent inner ear",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia of the labyrinth"
@@ -184315,8 +184957,8 @@
"val" : "UMLS:C0266604"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-07T08:23:52Z"
@@ -184329,14 +184971,14 @@
"meta" : {
"definition" : {
"val" : "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023392"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-07T08:24:55Z"
@@ -184349,19 +184991,19 @@
"meta" : {
"definition" : {
"val" : "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.",
- "xrefs" : [ "HPO:dfitzpatrick" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:dfitzpatrick" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent cochlea",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023390"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-07T08:31:27Z"
@@ -184374,7 +185016,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the function of the inner ear.",
- "xrefs" : [ "DDD:dfitzpatrick" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dfitzpatrick" ]
},
"comments" : [ "The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium." ],
"synonyms" : [ {
@@ -184386,8 +185028,8 @@
"val" : "UMLS:C4023382"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-09T04:58:30Z"
@@ -184400,15 +185042,15 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the internal part of the ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The inner ear contains the cochlea and the semicircular canals." ],
"xrefs" : [ {
"val" : "UMLS:C4023381"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-09T04:59:24Z"
@@ -184423,8 +185065,8 @@
"val" : "UMLS:C4023380"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-09T05:03:30Z"
@@ -184437,25 +185079,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small cochlea",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped cochlea",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023378"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-09T05:37:50Z"
@@ -184474,8 +185116,8 @@
"val" : "UMLS:C4023372"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-15T11:05:13Z"
@@ -184496,8 +185138,8 @@
"val" : "UMLS:C0426234"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-15T10:10:35Z"
@@ -184510,7 +185152,7 @@
"meta" : {
"definition" : {
"val" : "Increased length of the umbilical cord.",
- "xrefs" : [ "DDD:hfirth" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6410-0882" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184523,8 +185165,8 @@
"val" : "UMLS:C0405028"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-15T10:12:55Z"
@@ -184537,7 +185179,7 @@
"meta" : {
"definition" : {
"val" : "An increased consentration of zinc in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184549,8 +185191,8 @@
"val" : "UMLS:C0856208"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-17T08:54:44Z"
@@ -184575,8 +185217,8 @@
"val" : "UMLS:C4023366"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-17T04:26:01Z"
@@ -184589,7 +185231,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the medulla oblongata, the lower half of the brainstem.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures." ],
"synonyms" : [ {
@@ -184603,8 +185245,8 @@
"val" : "UMLS:C4021148"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-18T01:51:24Z"
@@ -184617,7 +185259,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the control or production of movement in the central nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184627,8 +185269,8 @@
"val" : "UMLS:C4023354"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-18T02:29:04Z"
@@ -184652,8 +185294,8 @@
"val" : "UMLS:C4023353"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-18T02:40:46Z"
@@ -184666,14 +185308,14 @@
"meta" : {
"definition" : {
"val" : "Cognitive, psychiatric or memory anomaly.",
- "xrefs" : [ "DDD:ajackson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-3674-3960" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023352"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-18T04:23:59Z"
@@ -184691,7 +185333,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Central nervous system infection",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D002494"
@@ -184701,8 +185343,8 @@
"val" : "UMLS:C0007684"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-18T05:57:29Z"
@@ -184715,7 +185357,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the function of the middle ear.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube." ],
"synonyms" : [ {
@@ -184727,8 +185369,8 @@
"val" : "UMLS:C4021846"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-19T09:33:03Z"
@@ -184746,8 +185388,8 @@
"val" : "UMLS:C0740651"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-25T05:35:45Z"
@@ -184760,25 +185402,25 @@
"meta" : {
"definition" : {
"val" : "Absence or underdevelopment of the gallbladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small gallbladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped gallbladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023344"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-25T07:40:20Z"
@@ -184791,7 +185433,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect in which the gallbladder fails to form.",
- "xrefs" : [ "DDD:hfirth" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6410-0882" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -184812,8 +185454,8 @@
"val" : "UMLS:C0266251"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-25T07:41:14Z"
@@ -184827,14 +185469,14 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of small intestinal villus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023341"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-26T08:16:03Z"
@@ -184847,7 +185489,7 @@
"meta" : {
"definition" : {
"val" : "The enteric villi are atrophic or absent.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -184856,23 +185498,23 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Villous degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Biopsy shows villous atrophy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Duodenal villous atrophy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Small intestine biopsy shows villous atrophy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Variable degree of villous atrophy",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:275403002"
@@ -184892,8 +185534,8 @@
"val" : "UMLS:C4020747"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-03-26T08:18:31Z"
@@ -184906,7 +185548,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184916,8 +185558,8 @@
"val" : "UMLS:C4023337"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-01T09:08:05Z"
@@ -184930,7 +185572,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184943,8 +185585,8 @@
"val" : "UMLS:C1858567"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-01T09:11:55Z"
@@ -184957,7 +185599,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184967,8 +185609,8 @@
"val" : "UMLS:C4023336"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-01T09:35:54Z"
@@ -184981,7 +185623,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.",
- "xrefs" : [ "DDD:gblack" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -184991,8 +185633,8 @@
"val" : "UMLS:C4023332"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-02T10:18:50Z"
@@ -185005,15 +185647,15 @@
"meta" : {
"definition" : {
"val" : "Abnormal migration of corneal endothelium.",
- "xrefs" : [ "DDD:ncarter" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_ncarter" ]
},
"comments" : [ "Can be seen in posterior polymorphous corneal dystrophy." ],
"xrefs" : [ {
"val" : "UMLS:C4023331"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-02T10:20:17Z"
@@ -185026,7 +185668,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.",
- "xrefs" : [ "DDD:gblack" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185036,8 +185678,8 @@
"val" : "UMLS:C4023330"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-02T10:23:11Z"
@@ -185050,7 +185692,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the stroma of cornea, also known as the substantia propria of cornea.",
- "xrefs" : [ "DDD:ncarter", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "HPO_CONTRIBUTOR:DDD_ncarter" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185060,8 +185702,8 @@
"val" : "UMLS:C4023328"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-02T10:28:49Z"
@@ -185074,7 +185716,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.",
- "xrefs" : [ "DDD:gblack" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-8727-6592" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185084,8 +185726,8 @@
"val" : "UMLS:C4023326"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-03T07:10:49Z"
@@ -185098,7 +185740,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal shape of the lens.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -185109,8 +185751,8 @@
"val" : "UMLS:C4023314"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-06T09:16:11Z"
@@ -185123,7 +185765,7 @@
"meta" : {
"definition" : {
"val" : "Congenital defect characterized by underdevelopment of the tricuspid valve.",
- "xrefs" : [ "DDD:dbrown" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185131,7 +185773,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Underdeveloped tricuspid valve",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "Fyler:1720"
@@ -185139,8 +185781,8 @@
"val" : "UMLS:C4023294"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-08T10:22:38Z"
@@ -185153,15 +185795,15 @@
"meta" : {
"definition" : {
"val" : "Abnormally short chordae tendineae of the mitral valve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart." ],
"xrefs" : [ {
"val" : "UMLS:C4023288"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-08T12:01:44Z"
@@ -185174,7 +185816,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.",
- "xrefs" : [ "DDD:dbrown" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185184,8 +185826,8 @@
"val" : "UMLS:C4023271"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-08T09:20:13Z"
@@ -185198,14 +185840,14 @@
"meta" : {
"definition" : {
"val" : "A developmental defect of the pericardium with congenital onset.",
- "xrefs" : [ "DDD:dbrown" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023261"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-08T10:05:20Z"
@@ -185218,16 +185860,16 @@
"meta" : {
"definition" : {
"val" : "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.",
- "xrefs" : [ "DDD:dbrown" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent pericardium",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Congenital absence of the pericardium",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "Fyler:1910"
@@ -185237,8 +185879,8 @@
"val" : "UMLS:C0345140"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-08T10:06:22Z"
@@ -185251,7 +185893,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.",
- "xrefs" : [ "DDD:dbrown", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "HPO_CONTRIBUTOR:DDD_dbrown" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185265,8 +185907,8 @@
"val" : "UMLS:C0344680"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-09T09:02:09Z"
@@ -185279,7 +185921,7 @@
"meta" : {
"definition" : {
"val" : "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.",
- "xrefs" : [ "DDD:dbrown", "PMID:3138904" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:DDD_dbrown", "PMID:3138904" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185291,8 +185933,8 @@
"val" : "UMLS:C3163894"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-09T09:12:28Z"
@@ -185305,7 +185947,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pulmonary veins.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium." ],
"synonyms" : [ {
@@ -185323,8 +185965,8 @@
"val" : "UMLS:C0265914"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-11T08:45:48Z"
@@ -185342,8 +185984,8 @@
"val" : "UMLS:C4023219"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-11T08:56:19Z"
@@ -185356,14 +185998,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality in the range and ease of motion of joints across their normal range.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023216"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-18T07:09:28Z"
@@ -185376,14 +186018,14 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the adrenal glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023213"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-21T08:04:29Z"
@@ -185396,14 +186038,14 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the adrenal glands.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023212"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-21T08:05:42Z"
@@ -185419,7 +186061,7 @@
"meta" : {
"definition" : {
"val" : "Absent development of the adrenal gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"xrefs" : [ {
"val" : "MSH:C538429"
@@ -185431,8 +186073,8 @@
"val" : "UMLS:C0266273"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-21T09:46:49Z"
@@ -185445,7 +186087,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -185461,8 +186103,8 @@
"val" : "UMLS:C4023206"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T11:17:00Z"
@@ -185475,19 +186117,19 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the neurohypophysis",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023204"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T01:20:33Z"
@@ -185500,12 +186142,12 @@
"meta" : {
"definition" : {
"val" : "Abnormal development of the neurohypophysis during embryonic growth and development.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Neurohypophysis dysplasia",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Posterior pituitary dysplasia"
@@ -185514,8 +186156,8 @@
"val" : "UMLS:C4021123"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T01:42:04Z"
@@ -185528,19 +186170,19 @@
"meta" : {
"definition" : {
"val" : "Absence of the neurohypophysis owing to a developmental defect.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Neurohypophysis agenesis",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023203"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T01:55:35Z"
@@ -185553,19 +186195,19 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the neurohypophysis.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Neurohypophysis hypoplasia",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023202"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T01:56:23Z"
@@ -185578,14 +186220,14 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the parathyroid gland.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023199"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T04:08:26Z"
@@ -185598,7 +186240,7 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the parathyroid gland.",
- "xrefs" : [ "DDD:spark", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547", "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -185613,8 +186255,8 @@
"val" : "UMLS:C4023198"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T04:09:13Z"
@@ -185627,14 +186269,14 @@
"meta" : {
"definition" : {
"val" : "Abnormal embryonic development of the parathyroid gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023197"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T04:20:41Z"
@@ -185647,13 +186289,13 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the thyroid gland.",
- "xrefs" : [ "DDD:spark" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0538-4547" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of thyroid gland",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of thyroid morphology"
@@ -185662,8 +186304,8 @@
"val" : "UMLS:C4023195"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T05:54:57Z"
@@ -185676,14 +186318,14 @@
"meta" : {
"definition" : {
"val" : "Neoplasm categorized according to type of histological abnormality.",
- "xrefs" : [ "DDD:rscott" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9113-2978" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023186"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T06:57:50Z"
@@ -185696,14 +186338,14 @@
"meta" : {
"definition" : {
"val" : "Neoplasm categorized according to the anatomical site of origin of the neoplasm.",
- "xrefs" : [ "DDD:rscott" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9113-2978" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023185"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-22T07:00:13Z"
@@ -185722,24 +186364,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of facial soft tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of facial soft tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of facial soft tissue",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023183"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-23T07:27:57Z"
@@ -185752,19 +186394,19 @@
"meta" : {
"definition" : {
"val" : "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.",
- "xrefs" : [ "DDD:jclayton-smith", "PMID:19125436" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-9602-2321", "PMID:19125436" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Small midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased size of midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat midface"
@@ -185775,11 +186417,11 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Midface deficiency",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Midface hypoplasia",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -185790,21 +186432,21 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Retrusive midface",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdevelopment of midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Decreased projection of midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hypotrophic midface",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1853242"
@@ -185816,8 +186458,8 @@
"val" : "UMLS:C4280321"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-24T07:46:05Z"
@@ -185840,7 +186482,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Bifid nasal bridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -185850,17 +186492,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Cleft nasal bridge",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Cleft nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Indented bridge of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:C535441"
@@ -185874,8 +186516,8 @@
"val" : "UMLS:C4280319"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-25T08:09:58Z"
@@ -185888,7 +186530,7 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of a skeletal muscle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185902,8 +186544,8 @@
"val" : "UMLS:C4023182"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-25T02:00:15Z"
@@ -185916,7 +186558,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of a skeletal muscle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -185928,7 +186570,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped muscle",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -185938,8 +186580,8 @@
"val" : "UMLS:C4023181"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-25T02:00:34Z"
@@ -185955,24 +186597,24 @@
"meta" : {
"definition" : {
"val" : "Decreased intensity of the patellar reflex (also known as the knee jerk reflex).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Decreased knee jerk reflex",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Decreased patellar reflexes",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3277184"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-27T08:38:22Z"
@@ -185985,7 +186627,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of one or more of the set of bones that make up the facial skeleton.",
- "xrefs" : [ "DDD:awilkie" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-2972-5481" ]
},
"comments" : [ "The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer." ],
"synonyms" : [ {
@@ -185996,37 +186638,37 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Abnormality of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Anomaly of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of the facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of facial bones",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of facial skeleton",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:433096001"
@@ -186034,8 +186676,8 @@
"val" : "UMLS:C2315229"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-04-29T04:37:30Z"
@@ -186048,32 +186690,32 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the oral mucosa.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of lining of mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of mucosa of mouth",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of oral mucosa"
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of oral mucous membrane",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023170"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-01T10:43:40Z"
@@ -186086,23 +186728,23 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal count of T cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal number of T cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of T cell number",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021113"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-06T10:43:44Z"
@@ -186115,14 +186757,14 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of T cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023166"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-06T10:44:50Z"
@@ -186138,7 +186780,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the form, structure, or size of the skeletal system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186147,14 +186789,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped skeletal",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023165"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-07T08:08:37Z"
@@ -186167,7 +186809,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the function of the skeletal system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186177,8 +186819,8 @@
"val" : "UMLS:C4023164"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-07T08:09:43Z"
@@ -186191,14 +186833,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023163"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-07T08:12:26Z"
@@ -186211,14 +186853,14 @@
"meta" : {
"definition" : {
"val" : "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.",
- "xrefs" : [ "HPO:probinson", "PMID:18157903" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:18157903" ]
},
"comments" : [ "All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal bone maturation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MP:0008271"
@@ -186228,8 +186870,8 @@
"val" : "UMLS:C4280317"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-15T07:39:58Z"
@@ -186242,14 +186884,14 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.",
- "xrefs" : [ "HPO:probinson", "MP:0011642" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0011642" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023158"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-27T01:32:04Z"
@@ -186262,14 +186904,14 @@
"meta" : {
"definition" : {
"val" : "Any anomaly in the formation of the bony substance of the sternum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal maturation of breastbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sternal ossification center abnormalities"
@@ -186282,8 +186924,8 @@
"val" : "UMLS:C1860243"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-27T04:08:55Z"
@@ -186299,14 +186941,14 @@
"meta" : {
"definition" : {
"val" : "Any anomaly in the function of thrombocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C0855740"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-30T05:32:11Z"
@@ -186319,7 +186961,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.",
- "xrefs" : [ "DDD:kfreson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-4381-2442" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:165558001"
@@ -186327,8 +186969,8 @@
"val" : "UMLS:C0580317"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-30T08:11:13Z"
@@ -186341,20 +186983,20 @@
"meta" : {
"definition" : {
"val" : "An anomaly in platelet form, ultrastructure, or intracellular organelles.",
- "xrefs" : [ "DDD:kfreson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-4381-2442" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of platelets",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0855742"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-31T03:43:59Z"
@@ -186367,14 +187009,14 @@
"meta" : {
"definition" : {
"val" : "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023152"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-31T03:46:13Z"
@@ -186387,7 +187029,7 @@
"meta" : {
"definition" : {
"val" : "Average platelet volume above the upper limit of the normal reference interval.",
- "xrefs" : [ "DDD:wouwehand" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-7744-1790" ]
},
"comments" : [ "Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL)." ],
"synonyms" : [ {
@@ -186399,8 +187041,8 @@
"val" : "UMLS:C1096367"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-05-31T03:58:17Z"
@@ -186422,8 +187064,8 @@
"val" : "UMLS:C0042880"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-02T05:21:14Z"
@@ -186436,13 +187078,13 @@
"meta" : {
"definition" : {
"val" : "Number of leukocytes per volume of blood beyond normal limits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal white blood cell count",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:165509000"
@@ -186450,8 +187092,8 @@
"val" : "UMLS:C0580531"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-02T05:32:39Z"
@@ -186464,7 +187106,7 @@
"meta" : {
"definition" : {
"val" : "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -186479,8 +187121,8 @@
"val" : "UMLS:C0349705"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-03T03:53:23Z"
@@ -186493,7 +187135,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of a metacarpophalangeal joint.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186507,8 +187149,8 @@
"val" : "UMLS:C4023132"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-03T11:03:36Z"
@@ -186521,14 +187163,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023131"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-05T08:51:23Z"
@@ -186541,14 +187183,14 @@
"meta" : {
"definition" : {
"val" : "Abnormal calcification in the cardiovascular system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023128"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-05T10:35:58Z"
@@ -186561,7 +187203,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment (hypoplasia) of the fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186570,24 +187212,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021111"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-08T08:25:00Z"
@@ -186600,7 +187242,7 @@
"meta" : {
"definition" : {
"val" : "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156." ],
"synonyms" : [ {
@@ -186611,7 +187253,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Very short digits",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1860176"
@@ -186619,8 +187261,8 @@
"val" : "UMLS:C4023124"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-10T09:18:42Z"
@@ -186633,20 +187275,20 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia (shortening) of proximal phalanx of toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023123"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-10T10:06:30Z"
@@ -186659,7 +187301,7 @@
"meta" : {
"definition" : {
"val" : "An infection of the upper or lower respiratory tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -186673,7 +187315,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Respiratory infections",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D012141"
@@ -186683,8 +187325,8 @@
"val" : "UMLS:C0035243"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-06-21T08:26:36Z"
@@ -186697,15 +187339,15 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of citrulline in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle." ],
"xrefs" : [ {
"val" : "UMLS:C4023103"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-18T08:21:59Z"
@@ -186718,14 +187360,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of citrulline in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023102"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-18T08:23:22Z"
@@ -186738,14 +187380,14 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of neutrophils.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023093"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-19T10:56:37Z"
@@ -186758,7 +187400,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal range of neutrophil cell counts in the circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186768,8 +187410,8 @@
"val" : "UMLS:C4023092"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-19T10:59:14Z"
@@ -186782,14 +187424,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal form or size of neutrophils.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023091"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-19T11:00:27Z"
@@ -186802,12 +187444,12 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the interatrial septum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal interatrial septum morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the atrial septum"
@@ -186820,8 +187462,8 @@
"val" : "UMLS:C0344722"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-19T11:34:27Z"
@@ -186834,13 +187476,13 @@
"meta" : {
"definition" : {
"val" : "Elevated concentration of galactose in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased urinary galactose level",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:71690006"
@@ -186848,8 +187490,8 @@
"val" : "UMLS:C0268157"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-26T10:31:35Z"
@@ -186862,7 +187504,7 @@
"meta" : {
"definition" : {
"val" : "Elevated concentration of galactose in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400)." ],
"synonyms" : [ {
@@ -186881,8 +187523,8 @@
"val" : "UMLS:C4023071"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-26T10:35:58Z"
@@ -186895,15 +187537,15 @@
"meta" : {
"definition" : {
"val" : "Deviation from the normal concentration of ornithine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs." ],
"xrefs" : [ {
"val" : "UMLS:C4023070"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-26T10:48:59Z"
@@ -186916,13 +187558,13 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of ornithine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood ornithine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D015799"
@@ -186934,8 +187576,8 @@
"val" : "UMLS:C0599035"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-26T10:49:54Z"
@@ -186948,7 +187590,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of a hormone in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -186958,8 +187600,8 @@
"val" : "UMLS:C4023069"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-07-27T01:29:51Z"
@@ -186972,14 +187614,14 @@
"meta" : {
"definition" : {
"val" : "Inability to elicit tendon reflexes in the upper limbs.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C2674177"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-01T12:24:31Z"
@@ -186992,15 +187634,15 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of disaccharide in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine." ],
"xrefs" : [ {
"val" : "UMLS:C4023062"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-04T02:54:28Z"
@@ -187013,7 +187655,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of keratan sulfate in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Keratan sulfate is a a glycosaminoglycan." ],
"synonyms" : [ {
@@ -187025,8 +187667,8 @@
"val" : "UMLS:C4023060"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-04T03:20:15Z"
@@ -187039,7 +187681,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage." ],
"synonyms" : [ {
@@ -187051,8 +187693,8 @@
"val" : "UMLS:C4023059"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-04T03:22:36Z"
@@ -187065,7 +187707,7 @@
"meta" : {
"definition" : {
"val" : "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -187085,14 +187727,14 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased size of the cerebellum compared to other brain structures.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C3278024"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-18T05:29:26Z"
@@ -187105,7 +187747,7 @@
"meta" : {
"definition" : {
"val" : "Any abnormality of the size of the skeletal muscle cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -187116,8 +187758,8 @@
"val" : "UMLS:C4023051"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T03:19:54Z"
@@ -187130,13 +187772,13 @@
"meta" : {
"definition" : {
"val" : "The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.",
- "xrefs" : [ "HPO:probinson", "PMID:25760357" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:25760357" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High urine neutrophil count",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Leukocyturia"
@@ -187151,8 +187793,8 @@
"val" : "UMLS:C0034359"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:10:26Z"
@@ -187165,14 +187807,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the surface contour of mitochondria.",
- "xrefs" : [ "HPO:probinson", "MP:0011633" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0011633" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023050"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-08T11:02:39Z"
@@ -187190,14 +187832,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped pancreas",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4023049"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:16:38Z"
@@ -187210,14 +187852,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the function of the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023048"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:17:10Z"
@@ -187230,19 +187872,19 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal exocrine pancreatic function",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021103"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:17:46Z"
@@ -187255,14 +187897,14 @@
"meta" : {
"definition" : {
"val" : "A function abnormality of the endocrine pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023047"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:18:18Z"
@@ -187275,7 +187917,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal size of the pancreas.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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@@ -187286,8 +187928,8 @@
"val" : "UMLS:C4023046"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-08-20T09:19:08Z"
@@ -187300,14 +187942,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal number of mitochondria per cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023043"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-08T11:03:33Z"
@@ -187320,12 +187962,12 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Mitochondrial abnormalities",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4020732"
@@ -187333,8 +187975,8 @@
"val" : "UMLS:C4023042"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-08T11:05:06Z"
@@ -187347,7 +187989,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the pons.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -187357,8 +187999,8 @@
"val" : "UMLS:C1848529"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-10T05:35:36Z"
@@ -187371,14 +188013,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the concentration of a glucocorticoid in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023038"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T04:22:26Z"
@@ -187391,7 +188033,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the liver.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -187406,8 +188048,8 @@
"val" : "UMLS:C0019158"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T05:03:29Z"
@@ -187420,7 +188062,7 @@
"meta" : {
"definition" : {
"val" : "Deviation from normal concentration of albumin in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -187431,8 +188073,8 @@
"val" : "UMLS:C4023036"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T05:14:53Z"
@@ -187445,7 +188087,7 @@
"meta" : {
"definition" : {
"val" : "Elevation in the concentration of albumin in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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@@ -187455,7 +188097,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood albumin levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperalbuminaemia"
@@ -187466,8 +188108,8 @@
"val" : "UMLS:C1142113"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T05:15:41Z"
@@ -187480,20 +188122,20 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of uracil in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "High urine uracil levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T06:53:53Z"
@@ -187506,7 +188148,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.",
- "xrefs" : [ "DDD:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"synonyms" : [ {
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@@ -187516,8 +188158,8 @@
"val" : "UMLS:C4020862"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T07:14:03Z"
@@ -187530,14 +188172,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.",
- "xrefs" : [ "DDD:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T07:17:18Z"
@@ -187550,16 +188192,16 @@
"meta" : {
"definition" : {
"val" : "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.",
- "xrefs" : [ "DDD:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Bone marrow biopsy shows erythroid hyperplasia",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Bone marrow smear shows erythroid hyperplasia",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0014800"
@@ -187569,8 +188211,8 @@
"val" : "UMLS:C3552917"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T07:19:21Z"
@@ -187583,7 +188225,7 @@
"meta" : {
"definition" : {
"val" : "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.",
- "xrefs" : [ "DDD:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -187591,7 +188233,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Erythroid hypoplasia in the bone marrow",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D000741"
@@ -187605,8 +188247,8 @@
"val" : "UMLS:C0542035"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T07:21:19Z"
@@ -187619,7 +188261,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.",
- "xrefs" : [ "DDD:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"synonyms" : [ {
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@@ -187629,8 +188271,8 @@
"val" : "UMLS:C4023031"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:02:11Z"
@@ -187645,8 +188287,8 @@
"val" : "UMLS:C4023029"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:09:13Z"
@@ -187661,8 +188303,8 @@
"val" : "UMLS:C4023028"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:09:36Z"
@@ -187675,7 +188317,7 @@
"meta" : {
"definition" : {
"val" : "Decreased number of granulocyte precursors in the bone marrow.",
- "xrefs" : [ "HPO:akelly" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-2945-4463" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:416627004"
@@ -187683,8 +188325,8 @@
"val" : "UMLS:C1534864"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:09:56Z"
@@ -187706,8 +188348,8 @@
"val" : "UMLS:C4023026"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:20:38Z"
@@ -187725,8 +188367,8 @@
"val" : "UMLS:C4023025"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:21:37Z"
@@ -187741,8 +188383,8 @@
"val" : "UMLS:C4023024"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-16T08:21:57Z"
@@ -187755,7 +188397,7 @@
"meta" : {
"definition" : {
"val" : "An decrease in the level of triglycerides in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -187769,14 +188411,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood triglyceride levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C0542037"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2012-09-20T06:39:11Z"
@@ -187789,14 +188431,14 @@
"meta" : {
"definition" : {
"val" : "A developmental defect resulting in the presence of fewer than the normal number of digits.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C3887496"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-02-16T10:44:40Z"
@@ -187809,12 +188451,12 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.",
- "xrefs" : [ "HPO:probinson", "PMID:21212348" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21212348" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal NK cells",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of natural killer cells"
@@ -187823,8 +188465,8 @@
"val" : "UMLS:C4021098"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-02-23T10:02:16Z"
@@ -187837,14 +188479,14 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the natural killer cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023012"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-02-23T10:03:37Z"
@@ -187857,14 +188499,14 @@
"meta" : {
"definition" : {
"val" : "Reduced ability of the natural killer cell to function in the adaptive immune response.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1839969"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-02-23T10:05:33Z"
@@ -187877,14 +188519,14 @@
"meta" : {
"definition" : {
"val" : "An increase in the concentration of bile acid in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4023004"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-12T11:56:40Z"
@@ -187897,7 +188539,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the mobility of ejaculated sperm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -187908,8 +188550,8 @@
"val" : "UMLS:C0855512"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-12T12:23:21Z"
@@ -187922,7 +188564,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal reduction in the mobility of ejaculated sperm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -187936,8 +188578,8 @@
"val" : "UMLS:C4023002"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-12T12:23:59Z"
@@ -187950,17 +188592,17 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormal kidney morphology",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped kidney",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -187991,8 +188633,8 @@
"val" : "UMLS:C0266292"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-14T07:41:11Z"
@@ -188017,17 +188659,17 @@
"meta" : {
"definition" : {
"val" : "An abnormal functionality of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal kidney function",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal renal function",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of renal physiology"
@@ -188045,8 +188687,8 @@
"val" : "UMLS:C0151746"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-14T07:43:34Z"
@@ -188071,15 +188713,15 @@
"meta" : {
"definition" : {
"val" : "Marked decrease in the number of granulocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter." ],
"xrefs" : [ {
"val" : "UMLS:C0702094"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-03-31T09:42:50Z"
@@ -188092,7 +188734,7 @@
"meta" : {
"definition" : {
"val" : "A structural or developmental anomaly of any of the tissues involved in the genital system.",
- "xrefs" : [ "HPO:probinson", "MP:0002160" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0002160" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188102,8 +188744,8 @@
"val" : "UMLS:C4021096"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-02T07:02:20Z"
@@ -188116,7 +188758,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the respiratory system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "Fyler:4235"
@@ -188124,8 +188766,8 @@
"val" : "UMLS:C4022992"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-07T09:11:09Z"
@@ -188138,14 +188780,14 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.",
- "xrefs" : [ "HPO:probinson", "MP:0010942" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0010942" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022991"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-07T09:12:48Z"
@@ -188158,20 +188800,20 @@
"meta" : {
"definition" : {
"val" : "An abnormally reduced concentration of glycine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood glycine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022973"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-07T03:54:41Z"
@@ -188184,14 +188826,14 @@
"meta" : {
"definition" : {
"val" : "Any deviation from the normal concentration of serine in the blood circulation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022972"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-07T03:57:10Z"
@@ -188204,20 +188846,20 @@
"meta" : {
"definition" : {
"val" : "Reduced concentration of serine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood serine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022971"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-07T03:57:25Z"
@@ -188230,25 +188872,25 @@
"meta" : {
"definition" : {
"val" : "Reduced size of the proximal epiphysis of the tibia.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of innermost shankbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of innermost shinbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022969"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-09T07:36:38Z"
@@ -188261,15 +188903,15 @@
"meta" : {
"definition" : {
"val" : "An abnormal functionality of the hypothalamus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones." ],
"xrefs" : [ {
"val" : "UMLS:C4022968"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-09T07:51:07Z"
@@ -188282,14 +188924,14 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of the hypothalamus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of hypothalamus",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of hypothalamus morphology"
@@ -188301,8 +188943,8 @@
"val" : "UMLS:C4021095"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-09T07:53:16Z"
@@ -188318,7 +188960,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of the occipital bone of the skull.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188328,8 +188970,8 @@
"val" : "UMLS:C4022964"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-11T06:21:12Z"
@@ -188342,20 +188984,20 @@
"meta" : {
"definition" : {
"val" : "Increased length of the middle phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long middle bone of finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022960"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-12T05:46:43Z"
@@ -188368,20 +189010,20 @@
"meta" : {
"definition" : {
"val" : "Increased length of the distal phalanx of finger.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long outermost bone of finger",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021865"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-04-12T05:48:52Z"
@@ -188394,7 +189036,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the arch of aorta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188408,8 +189050,8 @@
"val" : "UMLS:C3163801"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-06T10:06:07Z"
@@ -188422,7 +189064,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the arch of aorta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188431,7 +189073,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped aortic arch",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:2704"
@@ -188441,8 +189083,8 @@
"val" : "UMLS:C0265881"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-06T10:10:36Z"
@@ -188455,20 +189097,20 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the process of rib bone formation.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Abnormal maturation of rib bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022957"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-10T09:31:03Z"
@@ -188481,7 +189123,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188495,8 +189137,8 @@
"val" : "UMLS:C0580319"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-10T12:07:14Z"
@@ -188509,13 +189151,13 @@
"meta" : {
"definition" : {
"val" : "An increased number of circulating monocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood monocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:19636003"
@@ -188523,8 +189165,8 @@
"val" : "UMLS:C0085702"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-10T12:09:16Z"
@@ -188537,13 +189179,13 @@
"meta" : {
"definition" : {
"val" : "An decreased number of circulating monocytes.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low blood monocyte number",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:165539005"
@@ -188551,8 +189193,8 @@
"val" : "UMLS:C0427544"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-10T12:10:07Z"
@@ -188565,7 +189207,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the celiac artery.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta." ],
"synonyms" : [ {
@@ -188584,8 +189226,8 @@
"val" : "UMLS:C4022954"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-08-12T08:47:21Z"
@@ -188598,14 +189240,14 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the autonomic nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022953"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-09-13T07:52:31Z"
@@ -188618,7 +189260,7 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the autonomic nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -188634,8 +189276,8 @@
"val" : "UMLS:C4022952"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-09-13T07:53:55Z"
@@ -188660,14 +189302,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the metabolism of folic acid, which is also known as vitamin B9.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022951"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-09-13T08:38:06Z"
@@ -188680,7 +189322,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the processes involved in the maintenance of an internal equilibrium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MP:0001764"
@@ -188688,8 +189330,8 @@
"val" : "UMLS:C4022950"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-09-13T09:23:23Z"
@@ -188702,7 +189344,7 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of potassium(1+) in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -188717,7 +189359,7 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Low urine potassium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:54781007"
@@ -188725,8 +189367,8 @@
"val" : "UMLS:C0268024"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-03T10:21:51Z"
@@ -188739,12 +189381,12 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased phosphate concentration in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Low urine phosphate levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:91632005"
@@ -188752,8 +189394,8 @@
"val" : "UMLS:C0268077"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-03T10:25:06Z"
@@ -188777,23 +189419,23 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Flat facial profile",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flat facial shape",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Flat facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1853241"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-13T01:49:13Z"
@@ -188806,7 +189448,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the globe of the eye, or bulbus oculi.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "previously: Abnormal globe morphology" ],
"synonyms" : [ {
@@ -188820,7 +189462,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped eye",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "Fyler:4863"
@@ -188828,8 +189470,8 @@
"val" : "UMLS:C4022925"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-13T03:44:43Z"
@@ -188848,7 +189490,7 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the eye.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -188859,8 +189501,8 @@
"val" : "UMLS:C4022924"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-13T03:45:37Z"
@@ -188868,19 +189510,19 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0012379",
- "lbl" : "Abnormal enzyme/coenzyme activity",
+ "lbl" : "Abnormal circulating enzyme concentration or activity",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.",
- "xrefs" : [ "HPO:probinson", "MP:0005584" ]
+ "val" : "Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.",
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0005584" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022922"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-15T08:58:55Z"
@@ -188893,14 +189535,14 @@
"meta" : {
"definition" : {
"val" : "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Permanent flexion of the finger or toe",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:29271008"
@@ -188908,8 +189550,8 @@
"val" : "UMLS:C0685409"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-10-20T08:08:19Z"
@@ -188922,14 +189564,14 @@
"meta" : {
"definition" : {
"val" : "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C1836835"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-07T07:42:49Z"
@@ -188942,20 +189584,20 @@
"meta" : {
"definition" : {
"val" : "Reduced intensity of muscle tendon reflexes in jaw.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Mandibular hyporeflexia",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022918"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-07T07:43:29Z"
@@ -188968,7 +189610,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -188981,8 +189623,8 @@
"val" : "UMLS:C0476337"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-10T04:59:20Z"
@@ -188995,7 +189637,7 @@
"meta" : {
"definition" : {
"val" : "An inflammation of the choroid and retina.",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "PMID:16196117" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "PMID:16196117" ]
},
"comments" : [ "Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina." ],
"xrefs" : [ {
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"val" : "UMLS:C0008513"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-11T08:10:29Z"
@@ -189020,7 +189662,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the gallbladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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@@ -189030,14 +189672,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of gallbladder",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022904"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T01:13:40Z"
@@ -189050,14 +189692,14 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the gallbladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022903"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T01:17:00Z"
@@ -189070,14 +189712,14 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the biliary tree.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022902"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T02:14:51Z"
@@ -189090,7 +189732,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the biliary tree.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189100,8 +189742,8 @@
"val" : "UMLS:C4021086"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T02:15:33Z"
@@ -189114,13 +189756,13 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of brain",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -189130,8 +189772,8 @@
"val" : "UMLS:C4021085"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T02:38:00Z"
@@ -189144,18 +189786,18 @@
"meta" : {
"definition" : {
"val" : "Partial or complete wasting (loss) of brain tissue that was once present.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Brain degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Brain wasting",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:278849000"
@@ -189169,8 +189811,8 @@
"val" : "UMLS:C0235946"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-23T02:46:15Z"
@@ -189183,15 +189825,15 @@
"meta" : {
"definition" : {
"val" : "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Medial arterial calcification causes stiffening and decreased compliance of the affected arteries." ],
"xrefs" : [ {
"val" : "UMLS:C4022896"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-24T10:50:45Z"
@@ -189204,25 +189846,25 @@
"meta" : {
"definition" : {
"val" : "An increased level of iron in liver tissues.",
- "xrefs" : [ "HPO:probinson", "PMID:10922422", "PMID:14668426" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:10922422", "PMID:14668426" ]
},
"comments" : [ "This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased iron concentration in liver",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Increased liver iron level",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022891"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-24T12:54:57Z"
@@ -189235,7 +189877,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of cerebral veins.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189245,8 +189887,8 @@
"val" : "UMLS:C4022888"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-28T08:01:32Z"
@@ -189259,13 +189901,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the spinal cord.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of spinal cord",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009187"
@@ -189275,8 +189917,8 @@
"val" : "UMLS:C0026975"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-29T08:10:12Z"
@@ -189289,18 +189931,18 @@
"meta" : {
"definition" : {
"val" : "Inflammation of adipose tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Inflammation of adipose tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Inflammation of fat tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D015434"
@@ -189310,8 +189952,8 @@
"val" : "UMLS:C0030326"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-29T09:28:11Z"
@@ -189324,7 +189966,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the pituitary gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189338,8 +189980,8 @@
"val" : "UMLS:C0032002"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-30T09:34:21Z"
@@ -189352,14 +189994,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal size of the pituitary gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022874"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-30T09:36:04Z"
@@ -189372,7 +190014,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally increased size of the pituitary gland.",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:237718009"
@@ -189380,8 +190022,8 @@
"val" : "UMLS:C0342422"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-30T09:36:45Z"
@@ -189394,14 +190036,14 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased size of the pituitary gland.",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022873"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-11-30T09:37:34Z"
@@ -189414,20 +190056,20 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the circle of Willis, also known as the cerebral arterial circle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the cerebral arterial circle",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022868"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-12-09T07:03:02Z"
@@ -189440,14 +190082,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal discoid platelet shape.",
- "xrefs" : [ "DD:WHO" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-7744-1790" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022866"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-12-15T08:55:03Z"
@@ -189460,7 +190102,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.",
- "xrefs" : [ "HPO:probinson", "MP:0003635" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "MP:0003635" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189470,8 +190112,8 @@
"val" : "UMLS:C4021083"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-12-15T10:12:31Z"
@@ -189484,13 +190126,13 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of beta-alanine in the blood.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High blood beta-alanine levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hyperbetaalaninemia"
@@ -189499,8 +190141,8 @@
"val" : "UMLS:C4021080"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-04T01:37:23Z"
@@ -189513,7 +190155,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the nephron.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189523,8 +190165,8 @@
"val" : "UMLS:C4022838"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T12:49:04Z"
@@ -189537,13 +190179,13 @@
"meta" : {
"definition" : {
"val" : "Atrophy of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Kidney degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:197659005"
@@ -189551,8 +190193,8 @@
"val" : "UMLS:C0341698"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T03:21:19Z"
@@ -189565,14 +190207,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal amount of urine production.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"xrefs" : [ {
"val" : "UMLS:C3693260"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T03:59:33Z"
@@ -189595,8 +190237,8 @@
"val" : "UMLS:C4022833"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T05:44:11Z"
@@ -189609,7 +190251,7 @@
"meta" : {
"definition" : {
"val" : "Increased concentration of albumin in the urine.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"xrefs" : [ {
"val" : "MSH:D000419"
@@ -189619,8 +190261,8 @@
"val" : "UMLS:C0001925"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T05:49:16Z"
@@ -189633,7 +190275,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of potassium(1+) in the urine.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -189644,8 +190286,8 @@
"val" : "UMLS:C4022829"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T06:11:59Z"
@@ -189658,14 +190300,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal phosphate concentration in the urine.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022828"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T06:14:49Z"
@@ -189678,7 +190320,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of sodium in the urine.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189691,8 +190333,8 @@
"val" : "UMLS:C4022825"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T06:19:27Z"
@@ -189705,20 +190347,20 @@
"meta" : {
"definition" : {
"val" : "An abnormally decreased sodium concentration in the urine.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low urine sodium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022824"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T06:22:09Z"
@@ -189731,7 +190373,7 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of sodium(1+) in the urine.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189741,8 +190383,8 @@
"val" : "UMLS:C3671887"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-16T06:22:44Z"
@@ -189758,7 +190400,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal concentration of magnesium the urine.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -189769,8 +190411,8 @@
"val" : "UMLS:C4022823"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T11:37:50Z"
@@ -189783,14 +190425,14 @@
"meta" : {
"definition" : {
"val" : "An increased concentration of magnesium the urine.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"xrefs" : [ {
"val" : "UMLS:C2673443"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T11:38:51Z"
@@ -189803,7 +190445,7 @@
"meta" : {
"definition" : {
"val" : "An decreased concentration of magnesium the urine.",
- "xrefs" : [ "Eurenomics:fschaefer" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_fschaefer" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -189813,14 +190455,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Low urine magnesium levels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3203528"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T11:39:31Z"
@@ -189833,7 +190475,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal concentration of sulfate in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -189844,8 +190486,8 @@
"val" : "UMLS:C4022821"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T11:58:23Z"
@@ -189858,7 +190500,7 @@
"meta" : {
"definition" : {
"val" : "Elevated concentration of SO4(2-), i.e., sulfate, in the urine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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@@ -189869,8 +190511,8 @@
"val" : "UMLS:C4022820"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T11:58:51Z"
@@ -189883,7 +190525,7 @@
"meta" : {
"definition" : {
"val" : "An anomalous finding in the examination of the urine for cells.",
- "xrefs" : [ "Eurenomics:ewuehl" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:Eurenomics_ewuehl" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:310439007"
@@ -189891,8 +190533,8 @@
"val" : "UMLS:C0587955"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T12:01:16Z"
@@ -189905,14 +190547,14 @@
"meta" : {
"definition" : {
"val" : "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-17T12:27:06Z"
@@ -189925,7 +190567,7 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -189935,8 +190577,8 @@
"val" : "UMLS:C4022811"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-19T08:02:46Z"
@@ -189949,13 +190591,13 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the nervous system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of nervous system",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of nervous system morphology"
@@ -189968,8 +190610,8 @@
"val" : "UMLS:C4022810"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-01-19T08:03:08Z"
@@ -189982,20 +190624,20 @@
"meta" : {
"definition" : {
"val" : "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id)." ],
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Enlarged peripheral nerves",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2675074"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-02-01T12:44:16Z"
@@ -190008,7 +190650,7 @@
"meta" : {
"definition" : {
"val" : "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.",
- "xrefs" : [ "MONARCH:mhaendel" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9114-8737" ]
},
"synonyms" : [ {
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@@ -190019,8 +190661,8 @@
"val" : "UMLS:C4022805"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-02-01T01:25:42Z"
@@ -190033,7 +190675,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal reduction in the inflammatory response to injury or infection.",
- "xrefs" : [ "MONARCH:mhaendel" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9114-8737" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -190044,8 +190686,8 @@
"val" : "UMLS:C4022804"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-02-01T01:29:24Z"
@@ -190058,14 +190700,14 @@
"meta" : {
"definition" : {
"val" : "A abnormal increase in the inflammatory response to injury or infection.",
- "xrefs" : [ "MONARCH:mhaendel" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9114-8737" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022803"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-02-01T01:29:58Z"
@@ -190078,7 +190720,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal build up of iron (Fe) in brain tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190092,8 +190734,8 @@
"val" : "UMLS:C4021076"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-13T07:22:40Z"
@@ -190106,14 +190748,14 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022783"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T12:46:36Z"
@@ -190126,7 +190768,7 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of the pineal gland.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"comments" : [ "The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies." ],
"synonyms" : [ {
@@ -190137,8 +190779,8 @@
"val" : "UMLS:C4022782"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T12:50:21Z"
@@ -190151,15 +190793,15 @@
"meta" : {
"definition" : {
"val" : "Accumulation of calcium salts in the pineal gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be appreciated on skull radiography." ],
"xrefs" : [ {
"val" : "UMLS:C1398718"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T12:51:57Z"
@@ -190172,15 +190814,15 @@
"meta" : {
"definition" : {
"val" : "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"comments" : [ "This feature is typically assessed by magnetic resonance tomography of the brain." ],
"xrefs" : [ {
"val" : "UMLS:C4022781"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T01:08:48Z"
@@ -190193,14 +190835,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.",
- "xrefs" : [ "PMID:24456088", "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang", "PMID:24456088" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022780"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T01:10:12Z"
@@ -190213,14 +190855,14 @@
"meta" : {
"definition" : {
"val" : "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022779"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T01:11:33Z"
@@ -190233,14 +190875,14 @@
"meta" : {
"definition" : {
"val" : "A functional abnormality of the pineal gland.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022778"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T01:15:36Z"
@@ -190253,20 +190895,20 @@
"meta" : {
"definition" : {
"val" : "A structural abnormality of a diaphysis of the leg.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Anomaly of shaft of long bone of lower limb",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022767"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T06:14:15Z"
@@ -190279,14 +190921,14 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of the large intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022766"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T06:20:38Z"
@@ -190299,7 +190941,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190309,8 +190951,8 @@
"val" : "UMLS:C4022765"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-22T07:45:24Z"
@@ -190323,13 +190965,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal structure of the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of the digestive system",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
"pred" : "hasExactSynonym",
@@ -190342,8 +190984,8 @@
"val" : "UMLS:C4021073"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T01:09:02Z"
@@ -190356,7 +190998,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal functionality of the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -190371,8 +191013,8 @@
"val" : "UMLS:C4022755"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T01:10:47Z"
@@ -190385,13 +191027,13 @@
"meta" : {
"definition" : {
"val" : "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk." ],
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Venous malformations",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:297222002"
@@ -190399,8 +191041,8 @@
"val" : "UMLS:C2937220"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T01:20:33Z"
@@ -190413,7 +191055,7 @@
"meta" : {
"definition" : {
"val" : "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D006327"
@@ -190423,8 +191065,8 @@
"val" : "UMLS:C0018794"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T01:32:14Z"
@@ -190437,7 +191079,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the anus or rectum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "MSH:D000071056"
@@ -190447,8 +191089,8 @@
"val" : "UMLS:C3495676"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T02:48:00Z"
@@ -190461,7 +191103,7 @@
"meta" : {
"definition" : {
"val" : "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:399723004"
@@ -190469,8 +191111,8 @@
"val" : "UMLS:C1302645"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T03:50:25Z"
@@ -190483,7 +191125,7 @@
"meta" : {
"definition" : {
"val" : "Excessive fat around the stomach and abdomen.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -190493,7 +191135,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Central obesity",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D056128"
@@ -190503,8 +191145,8 @@
"val" : "UMLS:C0311277"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T05:00:05Z"
@@ -190517,7 +191159,7 @@
"meta" : {
"definition" : {
"val" : "Failure of the femur to develop.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190526,7 +191168,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia of the femur"
@@ -190537,8 +191179,8 @@
"val" : "UMLS:C0265629"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-03-23T05:14:34Z"
@@ -190551,13 +191193,13 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.",
- "xrefs" : [ "KI:phemming", "PMID:28723006" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:KI_phemming", "PMID:28723006" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal neuron shape",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal neuronal morphology"
@@ -190566,8 +191208,8 @@
"val" : "UMLS:C4022739"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-02T05:12:30Z"
@@ -190580,14 +191222,14 @@
"meta" : {
"definition" : {
"val" : "A deviation from normal size of the placenta.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022732"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-07T12:11:29Z"
@@ -190600,7 +191242,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the ciliary body.",
- "xrefs" : [ "CINEAS:asollie" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:CINEAS_asollie" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190610,8 +191252,8 @@
"val" : "UMLS:C4022726"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-07T04:00:10Z"
@@ -190624,7 +191266,7 @@
"meta" : {
"definition" : {
"val" : "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general." ],
"synonyms" : [ {
@@ -190635,8 +191277,8 @@
"val" : "UMLS:C1857304"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-20T04:09:34Z"
@@ -190649,20 +191291,20 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the process of formation of bone in the humerus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal maturation of long bone in upper arm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022722"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-24T10:23:43Z"
@@ -190675,14 +191317,14 @@
"meta" : {
"definition" : {
"val" : "A lack of bone mineralization of one or more body of thoracic vertebra.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022721"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-04-24T11:05:14Z"
@@ -190695,20 +191337,20 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped female external genitalia",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022715"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-05-27T08:14:55Z"
@@ -190721,7 +191363,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the myocardium.",
- "xrefs" : [ "HPO:probinson", "PMID:21304213", "PMID:22185868", "PMID:22361396" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21304213", "PMID:22185868", "PMID:22361396" ]
},
"comments" : [ "Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment." ],
"synonyms" : [ {
@@ -190738,8 +191380,8 @@
"val" : "UMLS:C0027059"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-05-28T09:01:32Z"
@@ -190752,7 +191394,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of a reproductive cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190764,14 +191406,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormally shaped reproductive cell",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022704"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T10:01:49Z"
@@ -190784,14 +191426,14 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of a male reproductive cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022703"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T10:05:33Z"
@@ -190804,13 +191446,13 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of sperm.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of sperm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Teratospermia"
@@ -190826,8 +191468,8 @@
"val" : "UMLS:C0403824"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T10:07:03Z"
@@ -190840,7 +191482,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal functionality of the male genital system.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -190850,8 +191492,8 @@
"val" : "UMLS:C4020716"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T11:20:46Z"
@@ -190864,7 +191506,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "SNOMEDCT_US:386674000"
@@ -190872,8 +191514,8 @@
"val" : "UMLS:C2937350"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T11:21:29Z"
@@ -190886,7 +191528,7 @@
"meta" : {
"definition" : {
"val" : "Difficulty of a male in achieving orgasm.",
- "xrefs" : [ "HPO:probinson", "PMID:24528812" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24528812" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -190899,8 +191541,8 @@
"val" : "UMLS:C0234047"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T11:29:28Z"
@@ -190913,7 +191555,7 @@
"meta" : {
"definition" : {
"val" : "Inability to ejaculate.",
- "xrefs" : [ "HPO:probinson", "PMID:24528812" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:24528812" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190927,8 +191569,8 @@
"val" : "UMLS:C0278106"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-09T11:33:16Z"
@@ -190941,7 +191583,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -190951,8 +191593,8 @@
"val" : "UMLS:C4022694"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "hecht"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-6996-5279"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-11T09:40:02Z"
@@ -190965,22 +191607,22 @@
"meta" : {
"definition" : {
"val" : "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased size of facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hyperplasia of facial muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022691"
@@ -190988,8 +191630,8 @@
"val" : "UMLS:C4280307"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-23T10:58:42Z"
@@ -191002,31 +191644,31 @@
"meta" : {
"definition" : {
"val" : "Muscle hypertrophy affecting the muscles of the neck.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Increased size of neck muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hypertrophy of cervical muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large neck muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Overgrowth of neck muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Hyperplasia of neck muscles",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022690"
@@ -191034,8 +191676,8 @@
"val" : "UMLS:C4280306"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-23T10:59:17Z"
@@ -191048,14 +191690,14 @@
"meta" : {
"definition" : {
"val" : "Muscle hypertrophy affecting the scapular muscles.",
- "xrefs" : [ "UToronto:htrang" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:UToronto_htrang" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022688"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-06-23T11:00:11Z"
@@ -191085,8 +191727,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-22T14:32:10Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191101,8 +191743,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-09-28T23:39:07Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191117,8 +191759,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-10-17T13:48:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191130,8 +191772,8 @@
"val" : "Any deviation of the concentration of one or more proteins in the urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2019-07-05T16:29:22Z"
@@ -191146,8 +191788,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-12T11:24:56Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191162,8 +191804,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-12T11:42:27Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191178,8 +191820,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-12T11:56:48Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191192,8 +191834,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-27T13:44:32Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191208,8 +191850,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-27T13:58:05Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191224,8 +191866,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-08-27T13:58:23Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191240,8 +191882,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-09-02T11:14:05Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191256,8 +191898,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-09-02T11:16:54Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191276,8 +191918,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-09-26T09:07:40Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191314,8 +191956,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-10-15T13:58:14Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191335,8 +191977,24 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-10-28T06:41:35Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0025129",
+ "lbl" : "Abnormal small intestinal mucosa morphology",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A structural anomaly of the mucous lining of the small intestine."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2016-11-15T11:57:47Z"
+ }, {
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191356,8 +192014,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-11-27T14:27:44Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191372,8 +192030,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-12-04T12:05:04Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191403,8 +192061,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2016-12-18T13:39:06Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191419,8 +192077,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-02-03T12:08:38Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191439,8 +192097,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-02-12T23:58:19Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191455,8 +192113,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-02-13T00:29:35Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191471,8 +192129,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-02-20T14:45:33Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191491,8 +192149,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T10:55:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191507,8 +192165,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T10:56:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191523,8 +192181,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T12:44:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191539,8 +192197,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T12:46:36Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191559,8 +192217,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T12:50:43Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "HP:0002109"
@@ -191578,8 +192236,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-23T12:51:32Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191594,8 +192252,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-24T00:03:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191618,8 +192276,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-05T10:24:32Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "HP:0032207"
@@ -191641,8 +192299,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-05T10:32:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191652,7 +192310,7 @@
"meta" : {
"definition" : {
"val" : "CSF total protein level is below the lower limit of normal.",
- "xrefs" : [ "ORCID:0000-0003-0169-8159", "PMID:27388694" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-0169-8159", "PMID:27388694" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -191672,8 +192330,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-05T10:34:12Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191683,7 +192341,7 @@
"meta" : {
"definition" : {
"val" : "CSF albumin level is below the lower limit of normal.",
- "xrefs" : [ "ORCID:0000-0003-0169-8159", "PMID:27388694" ]
+ "xrefs" : [ "https://orcid.org/0000-0003-0169-8159", "PMID:27388694" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -191694,8 +192352,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-05T10:46:15Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191710,8 +192368,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-07T11:14:54Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191726,8 +192384,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-07T11:17:15Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191742,8 +192400,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-14T17:07:03Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191759,8 +192417,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-14T17:16:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191775,8 +192433,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-17T23:42:26Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191792,8 +192450,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-17T23:44:02Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191812,8 +192470,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-15T23:00:56Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191832,8 +192490,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-15T23:02:17Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191851,8 +192509,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-15T23:54:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191870,8 +192528,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-15T23:56:01Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191886,8 +192544,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-04-26T17:40:47Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191902,8 +192560,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-04-26T17:43:08Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191929,8 +192587,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-04-26T17:44:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:probinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191942,8 +192600,8 @@
"val" : "Any structural anomaly of the neck region."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peterrobinson"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -191958,7 +192616,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent cervix",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Aplasia of the cervix"
@@ -192004,7 +192662,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -192012,31 +192670,31 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022670"
@@ -192056,7 +192714,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -192064,31 +192722,31 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Agenesis of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Agenesis of nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Failure of development of cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Failure of development of nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing cartilage of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing nasal cartilage",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "MSH:C562753"
@@ -192166,7 +192824,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the inner mucous membrane of the uterus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192183,7 +192841,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.",
- "xrefs" : [ "HPO:probinson", "PMID:11157536" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:11157536" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022605"
@@ -192196,7 +192854,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.",
- "xrefs" : [ "HPO:probinson", "PMID:21994886" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21994886" ]
},
"comments" : [ "Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis." ],
"synonyms" : [ {
@@ -192219,13 +192877,13 @@
"meta" : {
"definition" : {
"val" : "Abnormal growth of tissue projecting from a mucous membrane of the endocervix.",
- "xrefs" : [ "HPO:probinson", "PMID:21270291" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21270291" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Cervical tumor",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -192250,7 +192908,7 @@
"meta" : {
"definition" : {
"val" : "Abnormally large size of glomeruli.",
- "xrefs" : [ "HPO:probinson", "PMID:21115671", "PMID:9402101" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21115671", "PMID:9402101" ]
},
"comments" : [ "Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states." ],
"xrefs" : [ {
@@ -192264,7 +192922,7 @@
"meta" : {
"definition" : {
"val" : "Abnormality of vascular function.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022603"
@@ -192277,7 +192935,7 @@
"meta" : {
"definition" : {
"val" : "Abnormalities of the overall muscle bulk based on clinical observation.",
- "xrefs" : [ "Neuromics:vstraub" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9046-3540" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -192295,7 +192953,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the deltoid muscle.",
- "xrefs" : [ "Neuromics:vstraub" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-9046-3540" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192319,14 +192977,14 @@
"meta" : {
"definition" : {
"val" : "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.",
- "xrefs" : [ "HPO:probinson", "PMID:21960890" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:21960890" ]
},
"comments" : [ "Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in portal vein",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:17920008"
@@ -192341,13 +192999,13 @@
"meta" : {
"definition" : {
"val" : "An obstruction in the veins of the liver caused by a blood clot (thrombosis).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Blood clot in liver vein",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Hepatic venous thrombosis"
@@ -192367,12 +193025,12 @@
"meta" : {
"definition" : {
"val" : "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).",
- "xrefs" : [ "HPO:probinson", "PMID:20532730" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:20532730" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Blood clot in splanchnic vein",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022560"
@@ -192385,7 +193043,7 @@
"meta" : {
"definition" : {
"val" : "The presence of multiple polyps in the large intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022556"
@@ -192398,7 +193056,7 @@
"meta" : {
"definition" : {
"val" : "Lack of recognizable penile structures.",
- "xrefs" : [ "HPO:probinson", "PMID:23650202" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23650202" ]
},
"comments" : [ "Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue." ],
"synonyms" : [ {
@@ -192434,13 +193092,13 @@
"meta" : {
"definition" : {
"val" : "An abnormal flattening of an epiphysis of femur.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Flattended end part of thigh bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1850642"
@@ -192453,7 +193111,7 @@
"meta" : {
"definition" : {
"val" : "Lack of ossification of the sacrum.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192470,7 +193128,7 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal number of vertebrae in the spinal column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022523"
@@ -192492,7 +193150,7 @@
"meta" : {
"definition" : {
"val" : "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022513"
@@ -192505,7 +193163,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the number of macrophages.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022509"
@@ -192598,7 +193256,7 @@
"meta" : {
"definition" : {
"val" : "Increase in size of the right atrium.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "This feature can be appreciated on chext radiography, MRI, or CT." ],
"synonyms" : [ {
@@ -192640,7 +193298,7 @@
"meta" : {
"definition" : {
"val" : "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192665,7 +193323,7 @@
"meta" : {
"definition" : {
"val" : "Lack of observable tonsillar tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192689,7 +193347,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of venous function.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4280744"
@@ -192702,7 +193360,7 @@
"meta" : {
"definition" : {
"val" : "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -192722,7 +193380,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the muscular contractions that propel food though the gastrointestinal tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -192747,7 +193405,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the wave-like muscle contractions of the digestive tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
}
}
}, {
@@ -192759,14 +193417,11 @@
"val" : "An anomaly of the electrical conduction physiology of the heart."
},
"basicPropertyValues" : [ {
- "pred" : "http://purl.obolibrary.org/obo/hp#is_observable_through",
- "val" : "http://purl.obolibrary.org/obo/MAXO_0000900"
- }, {
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-03-17T17:47:04Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192781,8 +193436,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:00:44Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192794,8 +193449,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:14:14Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192810,8 +193465,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:29:12Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192829,8 +193484,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:38:34Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192845,8 +193500,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:38:42Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192866,8 +193521,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-04-18T13:55:40Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192883,8 +193538,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-13T12:45:39Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192899,8 +193554,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-13T13:02:06Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192915,8 +193570,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-27T14:41:39Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192928,8 +193583,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-28T22:32:58Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192944,8 +193599,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-28T22:33:50Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192960,8 +193615,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-28T23:11:43Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192976,8 +193631,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-28T23:12:36Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -192992,8 +193647,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-28T23:14:39Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193008,8 +193663,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-06-30T15:41:38Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193024,8 +193679,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-06-30T15:42:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193040,8 +193695,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-30T01:22:39Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193056,8 +193711,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-05-30T02:52:38Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193072,8 +193727,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-06-10T15:30:13Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193088,8 +193743,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-12T18:30:25Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193113,8 +193768,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-13T21:38:04Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193135,8 +193790,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T20:56:01Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193156,8 +193811,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:03:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193172,8 +193827,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:04:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193188,8 +193843,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:05:02Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193204,8 +193859,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:30:38Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193220,8 +193875,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:32:35Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193236,8 +193891,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:34:47Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193252,8 +193907,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:44:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193268,8 +193923,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:52:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193284,8 +193939,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-08-26T21:53:48Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193300,8 +193955,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-02T15:54:47Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193320,8 +193975,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-03T15:36:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193336,8 +193991,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-04T12:08:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193352,8 +194007,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-17T13:37:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193370,8 +194025,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-17T16:30:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193386,8 +194041,30 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-17T22:37:40Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0031508",
+ "lbl" : "Abnormal circulating thyroid hormone concentration",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Any deviation from the normal range of the hormones produced by the thyroid gland.",
+ "xrefs" : [ "PMID:28932413" ]
+ },
+ "comments" : [ "Thyroid hormones (TH) are involved in the regulation of metabolism, proliferation, and growth of most tissues. Serum TH levels are tightly controlled by the hypothalamic, pituitary, and thyroid (HPT) axis to deliver appropriate amounts of TH to target tissues. The two major THs (T3 and T4) are iodothyrosines synthesized by the thyroid gland under the control of thyrotropin/thyroid stimulating hormone (TSH), a glycoprotein heterodimer that is produced by the pituitary gland. TSH, in turn, is regulated by thyrotropin releasing hormone (TRH), a tripeptide generated by the hypothalamus that is released into its own portal system to reach the pituitary. Both the production of TRH and TSH are under negative feedback control determined by the circulating free TH concentrations." ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Abnormal thyroid hormone level"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2017-09-21T01:56:23Z"
+ }, {
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193419,8 +194096,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-09-24T22:36:44Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193435,8 +194112,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-17T15:17:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193451,8 +194128,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-17T15:19:13Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193467,8 +194144,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-17T15:21:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193494,8 +194171,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-17T21:04:26Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "HP:0032483"
@@ -193516,8 +194193,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-18T00:20:14Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193532,8 +194209,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2017-12-18T00:20:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193543,7 +194220,7 @@
"meta" : {
"definition" : {
"val" : "A developmental defect in which the coronary sinus fails to form.",
- "xrefs" : [ "HPO:nvasilevsky", "PMID:24551710" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "PMID:24551710" ]
},
"xrefs" : [ {
"val" : "Fyler:2841"
@@ -193552,8 +194229,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-01-28T12:02:56Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193568,8 +194245,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-02-25T14:28:46Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193584,8 +194261,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-04-04T01:11:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193604,8 +194281,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-04-04T01:15:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193620,8 +194297,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-04-04T01:16:02Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193637,8 +194314,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-04-29T14:50:56Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193653,8 +194330,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-04-29T14:55:47Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193669,8 +194346,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-05-02T01:05:40Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193680,14 +194357,14 @@
"meta" : {
"definition" : {
"val" : "A reduced concentration of zinc in the blood.",
- "xrefs" : [ "PMID:16518702", "RGD:gthayman" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:RGD_gthayman", "PMID:16518702" ]
},
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-05-04T02:05:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193697,14 +194374,14 @@
"meta" : {
"definition" : {
"val" : "Abnormal reduction in the count of eosinophils in the blood per volume.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-05-13T20:35:28Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193719,8 +194396,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-06-23T13:49:43Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193736,8 +194413,33 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-07-05T13:39:22Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0031942",
+ "lbl" : "Congenital absence of portal vein",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.",
+ "xrefs" : [ "PMID:18932274", "PMID:2053351" ]
+ },
+ "synonyms" : [ {
+ "synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
+ "pred" : "hasExactSynonym",
+ "val" : "CAPV"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Missing portal vein"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2018-07-05T13:42:31Z"
+ }, {
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193757,8 +194459,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-07-07T23:29:10Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193774,8 +194476,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-07-08T12:53:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193791,8 +194493,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-07-08T13:01:16Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193807,8 +194509,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-09-03T00:17:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193823,8 +194525,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-09-03T00:18:45Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193839,8 +194541,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-09-16T10:47:06Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193856,8 +194558,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-11-04T22:23:03Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193872,8 +194574,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-11-17T16:57:55Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193888,8 +194590,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-12-09T12:17:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193904,8 +194606,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2018-12-09T14:04:29Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193920,8 +194622,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-12T13:45:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193938,8 +194640,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-26T14:26:26Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193954,8 +194656,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-27T11:56:39Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193970,8 +194672,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-27T12:48:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -193983,8 +194685,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-27T16:44:33Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194005,8 +194707,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-01-27T20:07:59Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194022,8 +194724,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-14T10:54:57Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194033,7 +194735,7 @@
"meta" : {
"definition" : {
"val" : "Increased level of phenylalanine in urine.",
- "xrefs" : [ "PMID:18566668", "UCDenver:tjcallahan" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-8169-9049", "PMID:18566668" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -194043,8 +194745,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-23T16:46:17Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194063,8 +194765,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-23T18:15:25Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194081,8 +194783,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-23T18:37:21Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194099,8 +194801,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-23T18:42:24Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194122,8 +194824,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-03-03T17:45:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194133,7 +194835,7 @@
"meta" : {
"definition" : {
"val" : "Underdevelopment of the ureter.",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -194146,8 +194848,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-04-04T09:26:25Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194159,8 +194861,8 @@
"val" : "A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U)."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194172,8 +194874,8 @@
"val" : "Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194186,8 +194888,8 @@
},
"comments" : [ "Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context." ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194202,8 +194904,8 @@
"val" : "NCIT:C3053"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194216,8 +194918,8 @@
"xrefs" : [ "PMID:18755720" ]
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194229,8 +194931,8 @@
"val" : "Absence or underdevelopment of the thyroid gland."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194242,8 +194944,8 @@
"val" : "An elevated level of an aromatic amino acid in the urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194259,8 +194961,8 @@
"val" : "Increased tyrosine in urine"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194272,8 +194974,8 @@
"val" : "An elevated level of an glutamine family amino acid in the urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194285,8 +194987,8 @@
"val" : "An elevated level of an aspartate family amino acid in the urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194302,8 +195004,8 @@
"val" : "Elevated urinary non-proteinogenic amino acid level"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194315,8 +195017,8 @@
"val" : "An increased level of a serine family amino acid in the urine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194328,8 +195030,8 @@
"val" : "An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194344,8 +195046,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-08-29T11:59:15Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194360,8 +195062,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-08-29T12:04:47Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194382,8 +195084,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-03T12:01:20Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194398,8 +195100,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-05T13:35:03Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194415,8 +195117,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-15T10:25:52Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194431,8 +195133,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-20T11:17:40Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194447,8 +195149,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-20T11:18:32Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194463,8 +195165,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-09-24T09:15:07Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194480,8 +195182,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-11-29T16:35:16Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194496,8 +195198,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-12-01T11:42:14Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194513,8 +195215,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-12-01T12:00:51Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194534,8 +195236,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2020-12-23T14:31:16Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194550,8 +195252,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-01-09T17:51:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194563,8 +195265,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-01-09T23:02:44Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194574,7 +195276,7 @@
"meta" : {
"definition" : {
"val" : "Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).",
- "xrefs" : [ "ORCID:0000-0002-4095-8489", "PMID:30545968" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-4095-8489", "PMID:30545968" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -194584,8 +195286,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-01-24T14:20:32Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194600,8 +195302,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-02-03T13:41:58Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194616,8 +195318,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-05-08T13:50:44Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194632,8 +195334,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-05-16T17:27:46Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194652,8 +195354,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-05-16T17:29:18Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194668,8 +195370,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-11-27T19:01:00Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194688,8 +195390,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-11-27T19:03:05Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194698,14 +195400,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."
+ "val" : "An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."
},
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-04-10T11:11:27Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194720,8 +195422,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-04-10T13:13:34Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194730,14 +195432,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."
+ "val" : "An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."
},
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-04-10T18:07:18Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194754,8 +195456,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-04-23T11:42:49Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194774,8 +195476,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-05-21T15:34:06Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194790,8 +195492,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-05-21T15:47:04Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194814,8 +195516,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-05-28T21:45:14Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194827,8 +195529,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-09-05T10:59:04Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194843,8 +195545,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-09-30T12:50:12Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194865,8 +195567,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-09-30T12:53:13Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194878,8 +195580,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-11-24T00:18:11Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194894,8 +195596,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-11-26T13:37:26Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194910,8 +195612,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-12-03T23:24:34Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -194930,8 +195632,216 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2022-12-04T18:11:08Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "peter"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034548",
+ "lbl" : "Portal vein hypoplasia",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
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+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Hypoplasia of the portal veins"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-02-19T18:35:18Z"
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034644",
+ "lbl" : "Abnormal liver metabolite concentration",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The concentration of a metabolite in the liver is above or below the limits of normal."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-19T15:38:07Z"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034665",
+ "lbl" : "Shoulder contracture",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.",
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+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-25T12:27:46Z"
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034669",
+ "lbl" : "Abnormal knee morphology",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A structural abnormality of the knee joint or surrounding structures."
+ },
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-25T13:22:12Z"
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+ "id" : "http://purl.obolibrary.org/obo/HP_0034670",
+ "lbl" : "Abnormal knee physiology",
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+ "val" : "A functional anomaly of the knee joint."
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+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-25T13:23:25Z"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034671",
+ "lbl" : "Knee contracture",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.",
+ "xrefs" : [ "PMID:16214063", "PMID:24975760", "PMID:31282072" ]
+ },
+ "synonyms" : [ {
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+ "val" : "Contracture of knee"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Contracture of the knees"
+ }, {
+ "synonymType" : "http://purl.obolibrary.org/obo/hp#plural_form",
+ "pred" : "hasExactSynonym",
+ "val" : "Knee contractures"
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034673",
+ "lbl" : "Abnormal ankle morphology",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A structural anomaly of the ankle."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-25T13:30:08Z"
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034674",
+ "lbl" : "Abnormal ankle physiology",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A functional anomaly of the ankle."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-25T13:31:03Z"
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+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034675",
+ "lbl" : "Toe joint contracture",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.",
+ "xrefs" : [ "PMID:16214063", "PMID:24975760", "PMID:31282072" ]
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+ "basicPropertyValues" : [ {
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034677",
+ "lbl" : "Ankle contracture",
+ "type" : "CLASS",
+ "meta" : {
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+ "val" : "2023-03-26T15:52:39Z"
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034681",
+ "lbl" : "Finger joint contracture",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.",
+ "xrefs" : [ "PMID:16214063", "PMID:24975760", "PMID:31282072" ]
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+ "basicPropertyValues" : [ {
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+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_0034684",
+ "lbl" : "Abnormal enzyme concentration or activity",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Concentration or activity of an enzyme is above or below the limits of normal."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-26T18:12:26Z"
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+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
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}
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@@ -194943,8 +195853,8 @@
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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}
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@@ -194982,19 +195892,19 @@
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"pred" : "hasExactSynonym",
"val" : "Absent/small 5th long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped 5th long bone of foot",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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@@ -195006,14 +195916,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Underdeveloped diaphragm",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195029,14 +195939,14 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormality of nose hair",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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} ],
"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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@@ -195061,14 +195971,14 @@
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"pred" : "hasExactSynonym",
"val" : "Decreased fat tissue",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"pred" : "hasExactSynonym",
"val" : "Abnormal limbs",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
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"pred" : "hasExactSynonym",
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}, {
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"val" : "Dysmelia",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
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"basicPropertyValues" : [ {
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- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
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"pred" : "hasExactSynonym",
"val" : "Abnormality of lymphocyte number",
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+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
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"basicPropertyValues" : [ {
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}, {
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}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of natural killer cell count",
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+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
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"basicPropertyValues" : [ {
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"pred" : "hasExactSynonym",
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- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
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"basicPropertyValues" : [ {
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+ "pred" : "http://purl.org/dc/terms/creator",
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- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195370,8 +196280,8 @@
"val" : "UMLS:C0235760"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195383,18 +196293,18 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal liver iron concentration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal liver iron level",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022420"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195406,8 +196316,8 @@
"val" : "UMLS:C4022416"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195422,8 +196332,8 @@
"val" : "UMLS:C4022413"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195449,7 +196359,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of pelvis bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073132"
@@ -195463,7 +196373,7 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of lingual muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -195473,8 +196383,8 @@
"val" : "UMLS:C4073139"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195485,14 +196395,14 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of extrinsic lingual muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073140"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195511,8 +196421,8 @@
"val" : "UMLS:C4073141"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195558,13 +196468,34 @@
"lbl" : "Abnormal consumption behavior",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual",
+ "xrefs" : [ "PMID:35682170" ]
+ },
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
- "val" : "Abnormal consumption behaviour"
+ "val" : "Abnormal consumption behaviour",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073150"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-8430-6039"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4142-7153"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4422-1708"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0003-3777-1389"
} ]
}
}, {
@@ -195606,7 +196537,7 @@
"meta" : {
"definition" : {
"val" : "Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.",
- "xrefs" : [ "HPO:probinson", "PMID:23993353" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:23993353" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -195627,7 +196558,7 @@
"meta" : {
"definition" : {
"val" : "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#abbreviation",
@@ -195732,7 +196663,7 @@
"meta" : {
"definition" : {
"val" : "A deviation in the size of nasopharyngeal adenoids.",
- "xrefs" : [ "ORCID:0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
},
"xrefs" : [ {
"val" : "UMLS:C4280692"
@@ -195761,7 +196692,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal decrease in the size of nasopharyngeal adenoids.",
- "xrefs" : [ "ORCID:0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
},
"xrefs" : [ {
"val" : "UMLS:C4280689"
@@ -195811,7 +196742,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -195839,8 +196770,8 @@
"val" : "Abnormality of axial muscles"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "ORCID:0000-0002-5316-1399"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195849,8 +196780,8 @@
"type" : "CLASS",
"meta" : {
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "ORCID:0000-0002-5316-1399"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195922,8 +196853,8 @@
"val" : "An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-5208-3432"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
} ]
}
}, {
@@ -195935,8 +196866,8 @@
"val" : "An elevation from normal levels of immunoglobulins in body fluids, such as mucous."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-5208-3432"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
} ]
}
}, {
@@ -195948,8 +196879,8 @@
"val" : "An reduction from normal levels of immunoglobulins in body fluids, such as mucous."
},
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-5208-3432"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
} ]
}
}, {
@@ -195959,7 +196890,7 @@
"meta" : {
"definition" : {
"val" : "A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.",
- "xrefs" : [ "HPO:probinson", "PMID:19808787" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:19808787" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -195973,8 +196904,8 @@
"val" : "UMLS:C0027794"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -195986,8 +196917,8 @@
"val" : "UMLS:C4022400"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196007,8 +196938,8 @@
"val" : "UMLS:C4022399"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196022,8 +196953,8 @@
"val" : "UMLS:C0342892"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196038,8 +196969,8 @@
"val" : "UMLS:C4022397"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196058,8 +196989,8 @@
"val" : "UMLS:C4022395"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
"val" : "HP:0100722"
@@ -196074,8 +197005,8 @@
"val" : "UMLS:C4022394"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196092,8 +197023,8 @@
"val" : "UMLS:C4073166"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196108,26 +197039,29 @@
"val" : "UMLS:C4073176"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "HPO:skoehler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0045056",
- "lbl" : "Abnormal levels of alpha-fetoprotein",
+ "lbl" : "Abnormal circulating alpha-fetoprotein concentration",
"type" : "CLASS",
"meta" : {
+ "definition" : {
+ "val" : "Concentration of alpha-fetoprotein in the blood circulation outside normal limits."
+ },
"xrefs" : [ {
"val" : "UMLS:C4073179"
} ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0045057",
- "lbl" : "Decreased levels of alpha-fetoprotein",
+ "lbl" : "Decreased circulating alpha-fetoprotein concentration",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A decrease in the concentration of alpha-fetoprotein in the blood circulation."
+ "val" : "Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal."
},
"xrefs" : [ {
"val" : "UMLS:C4073295"
@@ -196170,7 +197104,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation in any serous cavity.",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
}
}
}, {
@@ -196180,7 +197114,7 @@
"meta" : {
"definition" : {
"val" : "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).",
- "xrefs" : [ "PMID:28599980", "sanford:krageth" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6387-4317", "PMID:28599980" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -196204,8 +197138,8 @@
"val" : "SNOMED_CT:298391004"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0002-5316-1399"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -196215,13 +197149,13 @@
"meta" : {
"definition" : {
"val" : "A tumor (abnormal growth of tissue) of the breast.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Breast tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -196244,8 +197178,8 @@
"val" : "UMLS:C1458155"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-14T09:45:09Z"
@@ -196261,7 +197195,7 @@
"meta" : {
"definition" : {
"val" : "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -196271,8 +197205,8 @@
"val" : "UMLS:C4022389"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-25T11:20:36Z"
@@ -196285,7 +197219,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy." ],
"synonyms" : [ {
@@ -196309,8 +197243,8 @@
"val" : "UMLS:C0026650"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-05-28T11:48:50Z"
@@ -196328,24 +197262,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent end part of the pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022344"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:00:02Z"
@@ -196360,24 +197294,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"pred" : "hasExactSynonym",
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- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:00:02Z"
@@ -196392,8 +197326,8 @@
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:00:02Z"
@@ -196408,24 +197342,24 @@
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"pred" : "hasExactSynonym",
"val" : "Small end part of the little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:00:02Z"
@@ -196440,24 +197374,24 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:02:41Z"
@@ -196472,24 +197406,24 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the middle bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the middle bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the middle bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:02:41Z"
@@ -196504,24 +197438,24 @@
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Abnormality of the end part of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T10:02:41Z"
@@ -196534,14 +197468,14 @@
"meta" : {
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+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
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@@ -196556,24 +197490,24 @@
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:03:31Z"
@@ -196588,24 +197522,24 @@
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:03:31Z"
@@ -196620,8 +197554,8 @@
"val" : "UMLS:C4022212"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:03:31Z"
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"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:03:31Z"
@@ -196668,24 +197602,24 @@
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the middle bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:00Z"
@@ -196700,24 +197634,24 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the middle bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:00Z"
@@ -196735,8 +197669,8 @@
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} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:00Z"
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"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Small end part of the middle bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:00Z"
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"val" : "Absent end part of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
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"pred" : "hasExactSynonym",
"val" : "Absent end part of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
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- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:53Z"
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"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
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"val" : "Enlarged end part of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Enlarged end part of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:53Z"
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"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
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- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small end part of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022189"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-24T05:04:53Z"
@@ -196896,7 +197830,7 @@
"meta" : {
"definition" : {
"val" : "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "MSH:D010016"
@@ -196910,8 +197844,8 @@
"val" : "UMLS:C0029440"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-08T11:38:30Z"
@@ -196924,7 +197858,7 @@
"meta" : {
"definition" : {
"val" : "Deposition of calcium salts in muscle tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -196936,8 +197870,8 @@
"val" : "UMLS:C2960760"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-09T12:32:25Z"
@@ -196950,15 +197884,15 @@
"meta" : {
"definition" : {
"val" : "Calcium deposition affecting the Meninges.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans." ],
"xrefs" : [ {
"val" : "UMLS:C4022181"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-14T03:41:34Z"
@@ -196971,7 +197905,7 @@
"meta" : {
"definition" : {
"val" : "The presence of dysplastic regions in metaphyseal regions.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "MSH:C536252"
@@ -196981,8 +197915,8 @@
"val" : "UMLS:C0265294"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-14T05:15:56Z"
@@ -197013,12 +197947,12 @@
"meta" : {
"definition" : {
"val" : "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Polydactyly, preaxial",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:205135003"
@@ -197026,8 +197960,8 @@
"val" : "UMLS:C0345354"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-20T11:00:32Z"
@@ -197040,7 +197974,7 @@
"meta" : {
"definition" : {
"val" : "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197055,8 +197989,8 @@
"val" : "UMLS:C0220697"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-20T11:00:32Z"
@@ -197072,14 +198006,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the structure or form of the tendons, also often called sinews.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of tendon",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the sinew"
@@ -197088,8 +198022,8 @@
"val" : "UMLS:C4021026"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-07-20T01:20:19Z"
@@ -197117,8 +198051,8 @@
"val" : "UMLS:C0333759"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-10T01:57:00Z"
@@ -197133,7 +198067,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Muscle fiber degeneration",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Muscle fibre atrophy"
@@ -197148,8 +198082,8 @@
"val" : "UMLS:C0333751"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-08-10T01:58:24Z"
@@ -197171,8 +198105,8 @@
"val" : "UMLS:C0237653"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-09-16T06:00:43Z"
@@ -197187,8 +198121,8 @@
"val" : "UMLS:C4022134"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-11T03:44:27Z"
@@ -197201,7 +198135,7 @@
"meta" : {
"definition" : {
"val" : "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197221,13 +198155,13 @@
"meta" : {
"definition" : {
"val" : "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Contracture of the outermost hinge joint of the 5th toe",
- "xrefs" : [ "ORCID:0000-0001-6908-9849" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-6908-9849" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022130"
@@ -197240,7 +198174,7 @@
"meta" : {
"definition" : {
"val" : "The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022126"
@@ -197262,8 +198196,8 @@
"val" : "UMLS:C2750635"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-11-11T04:18:29Z"
@@ -197276,7 +198210,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of one or more phalanx of little toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197285,7 +198219,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short phalanx of the fifth toe"
@@ -197293,12 +198227,12 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021012"
@@ -197313,22 +198247,22 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small outermost pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped outermost pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022120"
@@ -197343,22 +198277,22 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small middle 5th toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bone of little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bone of pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped middle bone of pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022117"
@@ -197371,28 +198305,28 @@
"meta" : {
"definition" : {
"val" : "Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small innermost pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped innermost 5th toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022114"
@@ -197405,7 +198339,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the distal phalanx of little toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197417,17 +198351,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021006"
@@ -197440,7 +198374,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the middle phalanx of the 5th toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -197450,17 +198384,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short middle bone of pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Short middle phalanx of the fifth toe"
@@ -197476,7 +198410,7 @@
"meta" : {
"definition" : {
"val" : "Developmental hypoplasia of the proximal phalanx of fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -197486,17 +198420,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost bone of little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost bone of pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short innermost bone of pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -197513,7 +198447,7 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the distal phalanx of little toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197522,22 +198456,22 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of the fifth toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Partial/complete duplication of the distal phalanx of the 5th toe"
@@ -197553,23 +198487,23 @@
"meta" : {
"definition" : {
"val" : "Partial or complete duplication of the proximal phalanx of fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Duplication of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Duplication of the proximal phalanx of the fifth toe"
@@ -197588,7 +198522,7 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the distal phalanx of little toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -197597,17 +198531,17 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4020988"
@@ -197620,23 +198554,23 @@
"meta" : {
"definition" : {
"val" : "Complete duplication of the proximal phalanx of fifth toe.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the innermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Complete duplication of the proximal phalanx of the fifth toe"
@@ -197652,23 +198586,23 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of the middle phalanx of the fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved middle bone of little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved middle bone of pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved middle bone of pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022082"
@@ -197681,23 +198615,23 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of the proximal phalanx of the fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost little toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost pinkie toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved innermost pinky toe bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022079"
@@ -197710,23 +198644,23 @@
"meta" : {
"definition" : {
"val" : "A deviation from the normal straight form of the distal phalanx of the fifth toe.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of the little toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of the pinkie toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Curved outermost bone of the pinky toe",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4022076"
@@ -197739,7 +198673,7 @@
"meta" : {
"definition" : {
"val" : "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.",
- "xrefs" : [ "HPO:sdoelken", "PMID:19125433" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154", "PMID:19125433" ]
},
"comments" : [ "Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified." ],
"synonyms" : [ {
@@ -197758,7 +198692,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Permanent flexion of the finger",
- "xrefs" : [ "orcid.org/0000-0002-6548-5200" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-6548-5200" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Proximal interphalangeal finger joint contractures"
@@ -197769,8 +198703,8 @@
"val" : "UMLS:C0409348"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-14T10:46:57Z"
@@ -197821,8 +198755,8 @@
"val" : "UMLS:C4020971"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-14T10:58:11Z"
@@ -197838,14 +198772,14 @@
"meta" : {
"definition" : {
"val" : "A decreased concentration of ammonia in the blood.",
- "xrefs" : [ "HPO:gcarletti" ]
+ "xrefs" : [ "HPO_CONTRIBUTOR:gcarletti" ]
},
"xrefs" : [ {
"val" : "UMLS:C4022041"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T03:54:51Z"
@@ -197858,7 +198792,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies." ],
"synonyms" : [ {
@@ -197874,8 +198808,8 @@
"val" : "UMLS:C1301149"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T04:02:08Z"
@@ -197888,7 +198822,7 @@
"meta" : {
"definition" : {
"val" : "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "MSH:D008415"
@@ -197900,8 +198834,8 @@
"val" : "UMLS:C0024899"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T04:06:36Z"
@@ -197916,8 +198850,8 @@
"val" : "UMLS:C4022039"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T04:25:31Z"
@@ -197936,8 +198870,8 @@
"val" : "UMLS:C4020970"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T04:26:14Z"
@@ -197950,7 +198884,7 @@
"meta" : {
"definition" : {
"val" : "A reduced circulating concentration of folic acid, which is also known as vitamin B9.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -197968,8 +198902,8 @@
"val" : "UMLS:C0016412"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:13:04Z"
@@ -197982,7 +198916,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly in the metabolism of a vitamin.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes." ],
"synonyms" : [ {
@@ -197994,8 +198928,8 @@
"val" : "UMLS:C4022036"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:17:22Z"
@@ -198015,8 +198949,8 @@
"val" : "UMLS:C4022035"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:19:15Z"
@@ -198047,8 +198981,8 @@
"val" : "UMLS:C0042870"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:19:35Z"
@@ -198080,8 +199014,8 @@
"val" : "UMLS:C0042875"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:20:12Z"
@@ -198101,8 +199035,8 @@
"val" : "UMLS:C4022034"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-17T06:20:30Z"
@@ -198115,7 +199049,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a neoplasm of the ureter.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -198138,8 +199072,8 @@
"val" : "UMLS:C0153619"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T10:35:11Z"
@@ -198152,13 +199086,13 @@
"meta" : {
"definition" : {
"val" : "Absence of urine, clinically classified as below 50ml/day.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent urine output",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D001002"
@@ -198168,8 +199102,8 @@
"val" : "UMLS:C0003460"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T10:41:00Z"
@@ -198198,8 +199132,8 @@
"val" : "UMLS:C0265551"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T11:32:41Z"
@@ -198212,7 +199146,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of phosphate homeostasis or concentration in the body.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198222,8 +199156,8 @@
"val" : "UMLS:C4022032"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T11:58:32Z"
@@ -198250,8 +199184,8 @@
"val" : "UMLS:C4022031"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T12:00:26Z"
@@ -198264,7 +199198,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the eye, parts of the eye or the periorbital region.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -198278,8 +199212,8 @@
"val" : "UMLS:C4020969"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T03:53:42Z"
@@ -198295,7 +199229,7 @@
"meta" : {
"definition" : {
"val" : "An abnormal site of the kidney.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -198306,8 +199240,8 @@
"val" : "UMLS:C4020968"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
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"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T06:43:50Z"
@@ -198320,7 +199254,7 @@
"meta" : {
"definition" : {
"val" : "Abnormal cognition with deficits in thinking, reasoning, or remembering.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions." ],
"synonyms" : [ {
@@ -198358,8 +199292,8 @@
"val" : "UMLS:C0683322"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-20T06:50:32Z"
@@ -198396,13 +199330,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
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"pred" : "hasExactSynonym",
"val" : "Abnormal shape of forebrain",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of forebrain morphology"
@@ -198414,8 +199348,8 @@
"val" : "UMLS:C4020967"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-21T02:12:53Z"
@@ -198428,13 +199362,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the formation and mineralization of one or more vertebrae.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal bone maturation of vertebra",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormal vertebral ossification"
@@ -198446,8 +199380,8 @@
"val" : "UMLS:C4020966"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-21T04:50:43Z"
@@ -198460,7 +199394,7 @@
"meta" : {
"definition" : {
"val" : "A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198470,8 +199404,8 @@
"val" : "UMLS:C4020965"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-21T05:11:26Z"
@@ -198484,7 +199418,7 @@
"meta" : {
"definition" : {
"val" : "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198494,8 +199428,8 @@
"val" : "UMLS:C4020964"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-21T05:14:00Z"
@@ -198510,8 +199444,8 @@
"val" : "UMLS:C4022021"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-21T05:14:00Z"
@@ -198524,7 +199458,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the urinary bladder.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198542,8 +199476,8 @@
"val" : "UMLS:C0010692"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-27T12:49:16Z"
@@ -198556,7 +199490,7 @@
"meta" : {
"definition" : {
"val" : "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "MSH:D004696"
@@ -198566,8 +199500,8 @@
"val" : "UMLS:C0014118"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-27T02:57:48Z"
@@ -198589,8 +199523,8 @@
"val" : "UMLS:C4022016"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-27T03:13:07Z"
@@ -198608,8 +199542,8 @@
"val" : "UMLS:C4022015"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-27T04:35:28Z"
@@ -198622,7 +199556,7 @@
"meta" : {
"definition" : {
"val" : "The nostrils (the paired channels of the nose) are not present.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198634,7 +199568,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Missing nostrils",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasRelatedSynonym",
"val" : "Aplasia/Hypoplasia of the nares"
@@ -198645,8 +199579,8 @@
"val" : "UMLS:C4020963"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-27T05:07:16Z"
@@ -198662,14 +199596,14 @@
"meta" : {
"definition" : {
"val" : "A general term for inflammation of the muscles without respect to the underlying cause.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"comments" : [ "Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Muscle inflammation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D009220"
@@ -198681,8 +199615,8 @@
"val" : "UMLS:C0027121"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-28T11:14:59Z"
@@ -198705,8 +199639,8 @@
"val" : "UMLS:C4020962"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-28T04:14:55Z"
@@ -198719,7 +199653,7 @@
"meta" : {
"definition" : {
"val" : "The presence of a diverticulum of the esophagus.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity." ],
"synonyms" : [ {
@@ -198736,8 +199670,8 @@
"val" : "UMLS:C0014854"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-29T02:22:08Z"
@@ -198750,13 +199684,13 @@
"meta" : {
"definition" : {
"val" : "Inflammation of the thyroid gland.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Thyroid gland inflammation",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D013966"
@@ -198766,8 +199700,8 @@
"val" : "UMLS:C0040147"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-29T06:08:32Z"
@@ -198786,7 +199720,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of the cerebral blood vessels",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the cerebral vasculature"
@@ -198795,8 +199729,8 @@
"val" : "UMLS:C4022001"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-30T11:39:15Z"
@@ -198809,7 +199743,7 @@
"meta" : {
"definition" : {
"val" : "Inflammation of cartilage.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -198822,8 +199756,8 @@
"val" : "UMLS:C0008439"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-30T12:57:50Z"
@@ -198836,7 +199770,7 @@
"meta" : {
"definition" : {
"val" : "A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -198855,8 +199789,8 @@
"val" : "UMLS:C4020702"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-30T01:23:50Z"
@@ -198869,7 +199803,7 @@
"meta" : {
"definition" : {
"val" : "A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.",
- "xrefs" : [ "HPO:probinson", "PMID:10464795" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:10464795" ]
},
"comments" : [ "Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut." ],
"xrefs" : [ {
@@ -198878,8 +199812,8 @@
"val" : "UMLS:C0266135"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-12-30T02:08:38Z"
@@ -198894,8 +199828,8 @@
"val" : "UMLS:C4021995"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-02-18T04:58:48Z"
@@ -198908,7 +199842,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Arachnoid mater.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198921,8 +199855,8 @@
"val" : "UMLS:C4020955"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-31T12:43:27Z"
@@ -198935,7 +199869,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the pia mater.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198945,8 +199879,8 @@
"val" : "UMLS:C4021994"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-03-31T12:44:41Z"
@@ -198959,7 +199893,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the glia cell.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons." ],
"synonyms" : [ {
@@ -198970,8 +199904,8 @@
"val" : "UMLS:C4021993"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-04-03T02:33:49Z"
@@ -198984,7 +199918,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the thoracic vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -198994,8 +199928,8 @@
"val" : "UMLS:C4021989"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-05-05T09:37:17Z"
@@ -199008,7 +199942,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the lumbar vertebral column.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -199018,8 +199952,8 @@
"val" : "UMLS:C4021988"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-05-05T09:37:33Z"
@@ -199032,7 +199966,7 @@
"meta" : {
"definition" : {
"val" : "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"xrefs" : [ {
@@ -199041,8 +199975,8 @@
"val" : "UMLS:C0344516"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-06T02:16:53Z"
@@ -199057,7 +199991,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Big face",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -199065,14 +199999,14 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Large facies",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C2748652"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-06T04:50:47Z"
@@ -199090,7 +200024,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal shape of the end part of the vertebra bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the vertebral epiphyses"
@@ -199099,37 +200033,13 @@
"val" : "UMLS:C4020953"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-06T05:13:08Z"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/HP_0100737",
- "lbl" : "Abnormal hard palate morphology",
- "type" : "CLASS",
- "meta" : {
- "synonyms" : [ {
- "pred" : "hasBroadSynonym",
- "val" : "Abnormality of the secondary palate",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
- }, {
- "pred" : "hasExactSynonym",
- "val" : "Abnormality of the hard palate"
- } ],
- "xrefs" : [ {
- "val" : "UMLS:C4021983"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val" : "2011-06-06T05:42:10Z"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/HP_0100743",
"lbl" : "Neoplasm of the rectum",
@@ -199139,7 +200049,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Rectal tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -199155,8 +200065,8 @@
"val" : "UMLS:C0034885"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-06T06:20:18Z"
@@ -199171,7 +200081,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal spit",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -199181,8 +200091,8 @@
"val" : "UMLS:C4021978"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T10:01:04Z"
@@ -199195,7 +200105,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
@@ -199217,8 +200127,8 @@
"val" : "UMLS:C4021976"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T10:40:36Z"
@@ -199234,14 +200144,14 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the tonsils.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"xrefs" : [ {
"val" : "UMLS:C4021975"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T10:43:35Z"
@@ -199264,8 +200174,8 @@
"val" : "UMLS:C4021974"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T10:44:54Z"
@@ -199278,7 +200188,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "The placenta is a fetomaternal organ. The fetal portion of the placenta is the villous chorion and the maternal portion is the decidua basalis. The two portions are connected by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell." ],
"synonyms" : [ {
@@ -199297,8 +200207,8 @@
"val" : "UMLS:C1306893"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T11:03:03Z"
@@ -199311,13 +200221,13 @@
"meta" : {
"definition" : {
"val" : "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasBroadSynonym",
"val" : "Stomach churning",
- "xrefs" : [ "ORCID:0000-0001-5208-3432", "http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432", "http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:271838002"
@@ -199329,8 +200239,8 @@
"val" : "UMLS:C0857071"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T11:53:08Z"
@@ -199343,12 +200253,12 @@
"meta" : {
"definition" : {
"val" : "Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"pred" : "hasRelatedSynonym",
"val" : "Intestinal hypoperistalsis",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:77853002"
@@ -199358,8 +200268,8 @@
"val" : "UMLS:C4020700"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T11:53:08Z"
@@ -199372,7 +200282,7 @@
"meta" : {
"definition" : {
"val" : "Excessive growth or abnormal thickening of bone tissue.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density)." ],
"synonyms" : [ {
@@ -199382,7 +200292,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Bone overgrowth",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D015576"
@@ -199394,8 +200304,8 @@
"val" : "UMLS:C0020492"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T05:17:19Z"
@@ -199408,7 +200318,7 @@
"meta" : {
"definition" : {
"val" : "An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).",
- "xrefs" : [ "HPO:probinson", "PMID:16700283" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:16700283" ]
},
"comments" : [ "The sacroiliac joint (SIJ) is a true diarthrodial joint: matching articular surfaces separated by a joint space containing synovial fluid and enveloped by a fibrous capsule. It does, however, have unique characteristics not typically found in other diarthrodial joints. The SIJ has fibrocartilage in addition to hyaline cartilage. There is discontinuity of the posterior capsule. Rather than being smooth, the articular surfaces have many ridges and depressions that minimize movement and enhance stability. Primary stability, however, is attributed to the many adjacent ligaments." ],
"synonyms" : [ {
@@ -199419,8 +200329,8 @@
"val" : "UMLS:C0262621"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-07T05:52:24Z"
@@ -199433,25 +200343,25 @@
"meta" : {
"definition" : {
"val" : "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small pancreas",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped pancreas",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021968"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T11:45:58Z"
@@ -199475,8 +200385,8 @@
"val" : "UMLS:C1858091"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T01:13:15Z"
@@ -199492,7 +200402,7 @@
"meta" : {
"definition" : {
"val" : "An outpouching of the gastric wall.",
- "xrefs" : [ "HPO:probinson", "PMID:22257431" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:22257431" ]
},
"comments" : [ "Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation." ],
"synonyms" : [ {
@@ -199507,8 +200417,8 @@
"val" : "UMLS:C0038355"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T01:43:31Z"
@@ -199521,25 +200431,25 @@
"meta" : {
"definition" : {
"val" : "Congenital absence or underdevelopment of the colon.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/small colon",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent/underdeveloped colon",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021964"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T01:54:57Z"
@@ -199552,13 +200462,13 @@
"meta" : {
"definition" : {
"val" : "Increase in the number or proportion of lymphocytes in the blood.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "High lymphocyte count",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "MSH:D008218"
@@ -199568,8 +200478,8 @@
"val" : "UMLS:C0024282"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T05:32:57Z"
@@ -199597,8 +200507,8 @@
"val" : "UMLS:C4021960"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T05:34:46Z"
@@ -199611,7 +200521,7 @@
"meta" : {
"definition" : {
"val" : "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -199622,8 +200532,8 @@
"val" : "UMLS:C4021958"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T05:46:50Z"
@@ -199636,14 +200546,14 @@
"meta" : {
"definition" : {
"val" : "The presence of a neoplasm of the small intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"comments" : [ "An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas." ],
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Small intestine tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -199657,8 +200567,8 @@
"val" : "UMLS:C0345832"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T06:03:02Z"
@@ -199671,13 +200581,13 @@
"meta" : {
"definition" : {
"val" : "The presence of a neoplasm of the large intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Large intestine tumor",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
"pred" : "hasExactSynonym",
@@ -199693,8 +200603,8 @@
"val" : "UMLS:C0009404"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-09T06:03:45Z"
@@ -199707,7 +200617,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of emotional behaviour.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -199717,8 +200627,8 @@
"val" : "UMLS:C4020949"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-23T11:07:13Z"
@@ -199731,7 +200641,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#uk_spelling",
@@ -199742,8 +200652,8 @@
"val" : "UMLS:C4018849"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-06-23T11:13:16Z"
@@ -199759,14 +200669,14 @@
"meta" : {
"definition" : {
"val" : "Decreased ossification of the vertebral bodies.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"xrefs" : [ {
"val" : "UMLS:C4021953"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-11-30T09:59:32Z"
@@ -199780,14 +200690,14 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Absent femoral head",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021950"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-11-30T10:47:46Z"
@@ -199802,14 +200712,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Absent neck of thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021949"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-11-30T10:48:08Z"
@@ -199822,7 +200732,7 @@
"meta" : {
"definition" : {
"val" : "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"subsets" : [ "http://purl.obolibrary.org/obo/hp#hposlim_core" ],
"synonyms" : [ {
@@ -199838,14 +200748,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short neck of thighbone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1836184"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-11-30T10:48:34Z"
@@ -199873,14 +200783,14 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short pelvis bones",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1849063"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-11-30T11:11:24Z"
@@ -199893,7 +200803,7 @@
"meta" : {
"definition" : {
"val" : "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -199911,8 +200821,8 @@
"val" : "UMLS:C2315541"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-01T02:29:09Z"
@@ -199934,8 +200844,8 @@
"val" : "UMLS:C0151994"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-01T02:32:26Z"
@@ -199957,8 +200867,8 @@
"val" : "UMLS:C0392039"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-01T02:33:12Z"
@@ -199971,29 +200881,29 @@
"meta" : {
"definition" : {
"val" : "An abnormality in the placement of the ocular globe (eyeball).",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of eyeball location",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of eyeball position",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of globe position",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4021946"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-13T04:25:29Z"
@@ -200006,13 +200916,13 @@
"meta" : {
"definition" : {
"val" : "An abnormality in the size of the ocular globe (eyeball).",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of eyeball size",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -200022,8 +200932,8 @@
"val" : "UMLS:C4021945"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-13T04:25:29Z"
@@ -200039,7 +200949,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.",
- "xrefs" : [ "HPO:sdoelken" ]
+ "xrefs" : [ "https://orcid.org/0009-0006-4530-3154" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -200049,8 +200959,8 @@
"val" : "UMLS:C4020944"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-01T04:52:13Z"
@@ -200063,13 +200973,13 @@
"meta" : {
"definition" : {
"val" : "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Increased bone density in foot bone",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Sclerosis of bones of the feet"
@@ -200078,8 +200988,8 @@
"val" : "UMLS:C4020931"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-02T11:12:32Z"
@@ -200092,7 +201002,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of the medulla of the kidney.",
- "xrefs" : [ "HPO:probinson", "PMID:22343825" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199", "PMID:22343825" ]
},
"comments" : [ "The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis." ],
"synonyms" : [ {
@@ -200103,8 +201013,8 @@
"val" : "UMLS:C4021911"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "doelkens"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0009-0006-4530-3154"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2011-12-12T10:02:15Z"
@@ -200120,7 +201030,7 @@
"meta" : {
"definition" : {
"val" : "The presence of multiple polyps in the intestine.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -200133,7 +201043,7 @@
}, {
"pred" : "hasRelatedSynonym",
"val" : "Gastrointestinal polyps",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "MSH:D044483"
@@ -200143,8 +201053,8 @@
"val" : "UMLS:C1257915"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sebastiankohler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2010-06-09T11:38:54Z"
@@ -200157,7 +201067,7 @@
"meta" : {
"definition" : {
"val" : "Disproportionately small hand.",
- "xrefs" : [ "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -200171,7 +201081,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasRelatedSynonym",
"val" : "Small hands",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "SNOMEDCT_US:299032009"
@@ -200179,8 +201089,8 @@
"val" : "UMLS:C0575802"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sebastiankohler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
} ]
}
}, {
@@ -200201,8 +201111,8 @@
"val" : "UMLS:C0949059"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sebastiankohler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-05-31T01:19:31Z"
@@ -200219,8 +201129,8 @@
"val" : "UMLS:C0521683"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "sebastiankohler"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-5316-1399"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2013-05-31T01:29:16Z"
@@ -200250,7 +201160,7 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Long ears",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C1848657"
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"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Short ears",
- "xrefs" : [ "HPO:skoehler" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-5316-1399" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C3551041"
@@ -200286,8 +201196,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of the vomer.",
- "xrefs" : [ "GOC:NV" ]
+ "val" : "An abnormality of the vomer."
},
"synonyms" : [ {
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}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of vomer bone",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Defect of vomer"
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"val" : "UMLS:C4020914"
} ]
}
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"meta" : {
"definition" : {
"val" : "Abnormality of the first branch of the internal carotid artery.",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
},
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"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Ophthalmic artery anomaly",
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"definition" : {
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"definition" : {
"val" : "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.",
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},
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"meta" : {
"definition" : {
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},
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+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463", "https://en.wikipedia.org/wiki/Ganglion" ]
},
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"meta" : {
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+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463", "https://en.wikipedia.org/wiki/Ganglion" ]
},
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@@ -200429,7 +201318,7 @@
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+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463", "https://en.wikipedia.org/wiki/Ganglion" ]
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}, {
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}, {
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}, {
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}, {
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}, {
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+ "pred" : "http://purl.org/dc/terms/creator",
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}, {
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}, {
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}, {
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}, {
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"val" : "Abnormality of neutrophil morphology in cerebrospinal fluid"
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- "val" : "http://orcid.org/0000-0001-5208-3432"
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"meta" : {
"definition" : {
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},
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}, {
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- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
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}, {
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- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
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"meta" : {
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}, {
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"meta" : {
"definition" : {
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+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
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"meta" : {
"definition" : {
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- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
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}, {
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- "val" : "http://orcid.org/0000-0001-7941-2961"
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- "val" : "http://orcid.org/0000-0001-7941-2961"
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"meta" : {
"definition" : {
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- "xrefs" : [ "http://orcid.org/0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
},
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- "xrefs" : [ "http://orcid.org/0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
}, {
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"pred" : "hasExactSynonym",
"val" : "Low blood phenylalanine",
- "xrefs" : [ "http://orcid.org/0000-0001-7941-2961" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-7941-2961" ]
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}, {
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"meta" : {
"definition" : {
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- "xrefs" : [ "http://orcid.org/0000-0001-7941-2961" ]
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- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -201984,8 +202856,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:27:34Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202006,8 +202878,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:30:42Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202028,8 +202900,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:32:30Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202050,8 +202922,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:32:46Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202071,8 +202943,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:40:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202093,8 +202965,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-25T20:40:30Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202115,8 +202987,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:00:29Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202134,8 +203006,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:00:54Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202156,8 +203028,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:36:15Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202178,8 +203050,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:36:36Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202200,8 +203072,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:48:42Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202222,8 +203094,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-02-26T15:49:01Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202239,8 +203111,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2019-08-21T15:12:23Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
}, {
@@ -202249,15 +203121,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any structural anomaly of an inner ear epithelium.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "Any structural anomaly of an inner ear epithelium."
},
"xrefs" : [ {
"val" : "UMLS:C4073211"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "haendel"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-9114-8737"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2014-07-15T23:41:38Z"
@@ -202269,8 +203140,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a buccal mucosa.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a buccal mucosa."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202279,19 +203149,19 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of cheek mucosa",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of inside lining of cheek",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073228"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:13:17Z"
@@ -202303,15 +203173,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a cartilage of external ear.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a cartilage of external ear."
},
"xrefs" : [ {
"val" : "UMLS:C4073231"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:15:54Z"
@@ -202324,7 +203193,7 @@
"meta" : {
"definition" : {
"val" : "Any structural abnormality of a facial artery, one of the branches of the external carotid artery.",
- "xrefs" : [ "GOC:TermGenie", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202334,8 +203203,8 @@
"val" : "UMLS:C4073233"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:16:03Z"
@@ -202347,31 +203216,30 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an orbit of skull.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an orbit of skull."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of bones of the orbit of the skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of bony orbit of skull"
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the bony eye socket",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of the orbital bones of skull",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073239"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:27:07Z"
@@ -202389,25 +203257,25 @@
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of adenoids",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of nasopharyngeal adenoids"
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of nasopharyngeal tonsil",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of pharyngeal tonsil",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073241"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:27:21Z"
@@ -202419,8 +203287,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a cartilage of nasal septum.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a cartilage of nasal septum."
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -202430,28 +203297,28 @@
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormality of cartilage of septum of nose",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"pred" : "hasExactSynonym",
"val" : "Anomaly of cartilage of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Deformity of cartilage of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasNarrowSynonym",
"val" : "Malformation of cartilage of nasal septum",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073242"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:27:26Z"
@@ -202464,7 +203331,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.",
- "xrefs" : [ "GOC:TermGenie", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -202482,8 +203349,8 @@
"val" : "UMLS:C4073244"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:36:02Z"
@@ -202496,7 +203363,7 @@
"meta" : {
"definition" : {
"val" : "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.",
- "xrefs" : [ "GOC:TermGenie", "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -202520,8 +203387,8 @@
"val" : "UMLS:C4073245"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:36:06Z"
@@ -202533,8 +203400,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an external carotid artery.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an external carotid artery."
},
"synonyms" : [ {
"pred" : "hasBroadSynonym",
@@ -202549,8 +203415,8 @@
"val" : "UMLS:C4073249"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T00:36:24Z"
@@ -202562,8 +203428,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any structural abnormality of a jugular vein.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "Any structural abnormality of a jugular vein."
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -202574,8 +203439,8 @@
"val" : "UMLS:C4073250"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:04:39Z"
@@ -202587,14 +203452,13 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a facial vein.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a facial vein."
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
"val" : "Abnormal vein of face",
- "xrefs" : [ "ORCID:0000-0001-5208-3432" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5208-3432" ]
}, {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
"pred" : "hasExactSynonym",
@@ -202604,8 +203468,8 @@
"val" : "UMLS:C4073251"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:04:44Z"
@@ -202617,15 +203481,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a genioglossus muscle.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a genioglossus muscle."
},
"xrefs" : [ {
"val" : "UMLS:C4073253"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:04:53Z"
@@ -202637,8 +203500,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX)."
},
"comments" : [ "The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx." ],
"synonyms" : [ {
@@ -202649,8 +203511,8 @@
"val" : "UMLS:C4073255"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:08:41Z"
@@ -202662,8 +203524,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an odontoid tissue.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an odontoid tissue."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202679,8 +203540,8 @@
"val" : "UMLS:C4073258"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:08:54Z"
@@ -202692,8 +203553,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a hyoglossus muscle.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a hyoglossus muscle."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202703,8 +203563,8 @@
"val" : "UMLS:C4073259"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:08:58Z"
@@ -202727,8 +203587,8 @@
"val" : "UMLS:C4073260"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:09:03Z"
@@ -202741,7 +203601,7 @@
"meta" : {
"definition" : {
"val" : "A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.",
- "xrefs" : [ "GOC:TermGenie", "HPO:probinson" ]
+ "xrefs" : [ "https://orcid.org/0000-0002-0736-9199" ]
},
"synonyms" : [ {
"synonymType" : "http://purl.obolibrary.org/obo/hp#layperson",
@@ -202750,14 +203610,14 @@
}, {
"pred" : "hasExactSynonym",
"val" : "Abnormality of lower pharynx",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073261"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T01:09:07Z"
@@ -202769,8 +203629,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an artery of lower lip.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an artery of lower lip."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202780,8 +203639,8 @@
"val" : "UMLS:C4073264"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:18:34Z"
@@ -202793,8 +203652,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an internal carotid artery.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an internal carotid artery."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202804,8 +203662,8 @@
"val" : "UMLS:C1860488"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:19:02Z"
@@ -202817,15 +203675,14 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an internal jugular vein.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an internal jugular vein."
},
"xrefs" : [ {
"val" : "UMLS:C4073270"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:19:06Z"
@@ -202837,20 +203694,19 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of an intrinsic muscle of tongue.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of an intrinsic muscle of tongue."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
"val" : "Abnormality of intrinsic lingual muscle",
- "xrefs" : [ "ORCID:0000-0001-5889-4463" ]
+ "xrefs" : [ "https://orcid.org/0000-0001-5889-4463" ]
} ],
"xrefs" : [ {
"val" : "UMLS:C4073271"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:19:10Z"
@@ -202862,8 +203718,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a lacrimal artery.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a lacrimal artery."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202873,8 +203728,8 @@
"val" : "UMLS:C4073272"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:38:25Z"
@@ -202886,8 +203741,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "An abnormality of a lacrimal sac.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "An abnormality of a lacrimal sac."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202897,8 +203751,8 @@
"val" : "UMLS:C4073273"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:38:31Z"
@@ -202910,8 +203764,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any structural abnormality of a lingual artery.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "Any structural abnormality of a lingual artery."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202921,8 +203774,8 @@
"val" : "UMLS:C4073281"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:39:06Z"
@@ -202935,7 +203788,7 @@
"meta" : {
"definition" : {
"val" : "Any structural anomaly of a lingual nerve.",
- "xrefs" : [ "GOC:TermGenie", "PMID:27662622" ]
+ "xrefs" : [ "PMID:27662622" ]
},
"comments" : [ "The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion." ],
"synonyms" : [ {
@@ -202946,8 +203799,8 @@
"val" : "UMLS:C4073282"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:39:10Z"
@@ -202959,8 +203812,7 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A structural abnormality of a mandibular symphysis.",
- "xrefs" : [ "GOC:TermGenie" ]
+ "val" : "A structural abnormality of a mandibular symphysis."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
@@ -202970,8 +203822,8 @@
"val" : "UMLS:C4073286"
} ],
"basicPropertyValues" : [ {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "vasilevs"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0001-5208-3432"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#creation_date",
"val" : "2015-08-07T03:39:28Z"
@@ -202993,8 +203845,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-06-09T12:13:11Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -203010,8 +203862,8 @@
"pred" : "http://purl.org/dc/elements/1.1/date",
"val" : "2021-11-24T01:28:09Z"
}, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "robinp"
+ "pred" : "http://purl.org/dc/terms/creator",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
} ]
}
}, {
@@ -203031,6 +203883,41 @@
"val" : "2023-01-16T09:27:52Z"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/HP_5200045",
+ "lbl" : "Reduced impulse control",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Reduced ability to control, or a failure to resist a temptation, urge, or impulse.",
+ "xrefs" : [ "PMID:16263865" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "Impaired self-restraint",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "Impulse control disorders",
+ "xrefs" : [ "https://orcid.org/0000-0001-8430-6039", "https://orcid.org/0000-0002-0736-9199", "https://orcid.org/0000-0002-4142-7153", "https://orcid.org/0000-0002-4422-1708", "https://orcid.org/0000-0003-3777-1389" ]
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0001-8430-6039"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4142-7153"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0002-4422-1708"
+ }, {
+ "pred" : "http://purl.org/dc/terms/contributor",
+ "val" : "https://orcid.org/0000-0003-3777-1389"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/IAO_0000002",
"lbl" : "example to be eventually removed",
@@ -203449,6 +204336,34 @@
"val" : "group:OBI"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/IAO_0000700",
+ "lbl" : "preferred_root",
+ "type" : "PROPERTY",
+ "meta" : {
+ "definition" : {
+ "val" : "Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root."
+ },
+ "xrefs" : [ {
+ "val" : "IAO:0000700"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000111",
+ "val" : "has ontology root term"
+ }, {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000117",
+ "val" : "Nicolas Matentzoglu"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace",
+ "val" : "uberon"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#is_metadata_tag",
+ "val" : "true"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#shorthand",
+ "val" : "has_ontology_root_term"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/IAO_0100001",
"lbl" : "term replaced by",
@@ -203506,16 +204421,6 @@
"xrefs" : [ "ISBN-10:0124105165" ]
},
"comments" : [ "An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process." ],
- "synonyms" : [ {
- "pred" : "hasBroadSynonym",
- "val" : "medical procedure"
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "clinical procedure"
- }, {
- "pred" : "hasNarrowSynonym",
- "val" : "treatment"
- } ],
"xrefs" : [ {
"val" : "NCIT:C25218"
}, {
@@ -203524,8 +204429,6 @@
"val" : "OAE:0000094"
}, {
"val" : "OGMS:0000112"
- }, {
- "val" : "SIO:001024"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -204390,6 +205293,22 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000034",
+ "lbl" : "therapeutic procedure by site",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "All manners of treatment to relieve illness and injury of a particular body site or system."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-20T19:58:58Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000038",
"lbl" : "obsolete therapeutic mental or psychological behavior avoidance",
@@ -206237,7 +207156,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000131",
- "lbl" : "location specific endoscopy",
+ "lbl" : "endoscopy by site",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -206245,7 +207164,10 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "endoscopy by site"
+ "val" : "endoscopy by body location"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "location specific endoscopy"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -206527,7 +207449,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000144",
- "lbl" : "histological procedure",
+ "lbl" : "histological examination",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -206535,6 +207457,9 @@
"xrefs" : [ "NCIT:C16680" ]
},
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "histological procedure"
+ }, {
"pred" : "hasExactSynonym",
"val" : "histological testing"
} ],
@@ -210856,7 +211781,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000259",
- "lbl" : "therapeutic insulin treatment",
+ "lbl" : "insulin treatment",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -210872,6 +211797,9 @@
}, {
"pred" : "hasExactSynonym",
"val" : "therapeutic insulin preparations treatment"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "therapeutic insulin therapy"
} ],
"xrefs" : [ {
"val" : "NCIT:C581"
@@ -216510,7 +217438,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000493",
- "lbl" : "cardiovascular diagnostic procedure",
+ "lbl" : "diagnostic procedure of cardiovascular system",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -216518,7 +217446,10 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "cardiovascular measurement"
+ "val" : "cardiovascular diagnostic procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "cardiovascular system diagnostic procedure"
} ],
"xrefs" : [ {
"val" : "CMO:0000001"
@@ -216668,13 +217599,19 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000499",
- "lbl" : "respiratory therapy",
+ "lbl" : "therapeutic procedure of respiratory system",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "Any form of treatment that acts to improve or assist with respiratory function.",
- "xrefs" : [ "NCIT:C15322" ]
+ "val" : "All manners of treatment to bring respiratory system back to its normal state."
},
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "respiratory system therapeutic procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "respiratory therapy"
+ } ],
"xrefs" : [ {
"val" : "NCIT:C15322"
} ],
@@ -221188,6 +222125,12 @@
}, {
"pred" : "hasNarrowSynonym",
"val" : "consultation with allergist"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "evaluation by an immunologist"
+ }, {
+ "pred" : "hasNarrowSynonym",
+ "val" : "immunologist evaluation"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -221677,7 +222620,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000682",
- "lbl" : "cardiovascular disease internist evaluation",
+ "lbl" : "cardiologist evaluation",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -222453,6 +223396,9 @@
}, {
"pred" : "hasExactSynonym",
"val" : "otolaryngology specialist referral"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "otorhinolaryngologist evaluation"
}, {
"pred" : "hasExactSynonym",
"val" : "referral to head and neck surgeon"
@@ -225450,6 +226396,9 @@
"xrefs" : [ "NCIT:C74718" ]
},
"synonyms" : [ {
+ "pred" : "hasBroadSynonym",
+ "val" : "iron-binding capacity assessment"
+ }, {
"synonymType" : "http://purl.obolibrary.org/obo/maxo#ABBREVIATION",
"pred" : "hasExactSynonym",
"val" : "IBCT"
@@ -228273,26 +229222,6 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/MAXO_0000968",
- "lbl" : "fundoscopy",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "A visualization of the fundus of the eye including the retina and optic nerve with a fundoscope, a device that projects light through the pupil of the eye and visualizes the fundus with magnification."
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "fundoscopic exam"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://purl.org/dc/elements/1.1/date",
- "val" : "2023-02-24T19:06:03Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "https://orcid.org/0000-0001-7941-2961"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0000969",
"lbl" : "optical coherence tomography",
@@ -228506,6 +229435,233 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000988",
+ "lbl" : "diagnostic procedure by site",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of a particular by part or system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "diagnostic procedure by body location"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-29T20:10:49Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000989",
+ "lbl" : "CT by site",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The use of computed tomography to produce images of structures of a particular body site."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "computed tomography procedure by body location"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T17:40:25Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000990",
+ "lbl" : "clinical biopsy by site",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A specimen collection from a particular body site used for diagnostic purposes."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "biopsy by body location"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T17:56:49Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000991",
+ "lbl" : "removal of nail",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure to take off or remove part or entire nail."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "nail removal"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T14:53:59Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000992",
+ "lbl" : "debridement of nail",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Reduction in the thickness and length of the nail. Often used to remove thickened nails due to fungal infection."
+ },
+ "comments" : [ "Debridement can be done by filing or drilling or other methods." ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "nail debridement"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T14:54:13Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000993",
+ "lbl" : "removal of skin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Removal or elimination of a portion of skin for therapeutic use."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T15:11:49Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000994",
+ "lbl" : "debridement of skin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Removal of dead (necrotic) or infected skin to help a wound heal."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T18:20:39Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000995",
+ "lbl" : "desloughing of skin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Removing slough from a wound."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "removal of slough from skin"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T18:20:54Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000996",
+ "lbl" : "application of emollient to skin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Addition of a softening or soothing agent to the skin."
+ },
+ "synonyms" : [ {
+ "pred" : "hasBroadSynonym",
+ "val" : "use of emollient"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "emollient application to skin"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "use of skin emollients"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T19:02:52Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000997",
+ "lbl" : "body shape assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Determination of shape of body or body parts. This may be used to assess symmetry, number, size, and shape of a patient's body or body parts."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:06:37Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000998",
+ "lbl" : "facial morphology assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Determination of shape, symmetry, and/or size of face."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:10:13Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0000999",
+ "lbl" : "head morphology assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Determination of shape, symmetry, and/or size of head."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:11:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001000",
"lbl" : "functional magnetic resonance imaging procedure",
@@ -228833,6 +229989,54 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001011",
+ "lbl" : "body measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measuring the body or its parts."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:22:35Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001012",
+ "lbl" : "waist measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measuring the distance around (circumference) a patient's waist."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:49:17Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001013",
+ "lbl" : "hip measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A measurement of circumference around the hip."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:49:27Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001014",
"lbl" : "medical action avoidance",
@@ -229157,6 +230361,26 @@
} ],
"deprecated" : true
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001024",
+ "lbl" : "waist to hip ratio calculation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A ratio determined by waist measurement divided by hip measurement."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "waist to hip ratio measurement"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:50:13Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001025",
"lbl" : "adrenergic drug therapy",
@@ -229239,6 +230463,22 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001028",
+ "lbl" : "facial morphology assessment by type",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Determination of shape, symmetry, and/or size of face using a particular method."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:53:56Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001029",
"lbl" : "adenoidectomy",
@@ -230638,6 +231878,33 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001090",
+ "lbl" : "3D facial analysis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Computer aided analysis of 3D facial images to detect abnormal facial phenotypes that assist in diagnosis, treatment monitoring and surgical planning.",
+ "xrefs" : [ "PMID:34108542" ]
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "'3D facial assessment'"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "three dimensional facial analysis"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "three dimensional facial assessment"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T16:54:13Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001091",
"lbl" : "Meckel's diverticulectomy",
@@ -231359,7 +232626,7 @@
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
- "val" : "2020-06-9T20:39:14Z"
+ "val" : "2020-06-09T20:39:14Z"
}, {
"pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
"val" : "http://orcid.org/0000-0001-7941-3010"
@@ -233208,9 +234475,6 @@
}, {
"pred" : "hasExactSynonym",
"val" : "endoscopy of upper digestive tract"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "gastroscopy"
}, {
"pred" : "hasExactSynonym",
"val" : "oesophagogastroduodenoscopy"
@@ -235564,6 +236828,22 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001298",
+ "lbl" : "therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A treatment that helps someone feel better, grow stronger, etc., especially after an illness."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T17:54:15Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001299",
"lbl" : "surgical repair of pericardium",
@@ -236075,7 +237355,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_65259"
+ "val" : "treatment with GABA antagonist"
} ],
"basicPropertyValues" : [ {
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@@ -236130,7 +237410,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_50268"
+ "val" : "treatment with GABA modulator"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -236170,7 +237450,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_38324"
+ "val" : "treatment with cholinergic agonist"
} ],
"basicPropertyValues" : [ {
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@@ -236190,7 +237470,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_38325"
+ "val" : "treatment with muscarinic agonist"
} ],
"basicPropertyValues" : [ {
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@@ -236210,7 +237490,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_47958"
+ "val" : "treatment with nicotinic acetylcholine receptor agonist"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -236229,6 +237509,9 @@
"val" : "Treatment with a drug or agent that inhibits cholinergic signaling."
},
"synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "anticholinergic agent therapy"
+ }, {
"pred" : "hasExactSynonym",
"val" : "treatment with cholinergic antagonist"
} ],
@@ -236250,7 +237533,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_48876"
+ "val" : "treatment with muscarinic antagonist"
} ],
"basicPropertyValues" : [ {
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@@ -236270,7 +237553,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_48878"
+ "val" : "treatment with nicotinic antagonist"
} ],
"basicPropertyValues" : [ {
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@@ -236290,7 +237573,10 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_50370"
+ "val" : "dopaminergic modifying agent therapy"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with parasympatholytic"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -236302,7 +237588,7 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001331",
- "lbl" : "dopaminergic modifying agent therapy",
+ "lbl" : "dopaminergic agent therapy",
"type" : "CLASS",
"meta" : {
"definition" : {
@@ -236310,7 +237596,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_48560"
+ "val" : "treatment with dopaminergic agent"
} ],
"basicPropertyValues" : [ {
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@@ -236370,7 +237656,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_51039"
+ "val" : "treatment with dopamine uptake inhibitor"
} ],
"basicPropertyValues" : [ {
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@@ -236390,7 +237676,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_48561"
+ "val" : "treatment with dopaminergic antagonist"
} ],
"basicPropertyValues" : [ {
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@@ -236430,7 +237716,7 @@
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_51373"
+ "val" : "treatment with GABA agonist"
} ],
"basicPropertyValues" : [ {
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@@ -236696,6 +237982,22 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001351",
+ "lbl" : "occupational therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An assessment and intervention to develop, recover, or maintain life activies or occupations."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T17:56:56Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001352",
"lbl" : "surgical repair of anorectum",
@@ -236836,6 +238138,29 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001359",
+ "lbl" : "applied behavior analysis therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A psychological intervention that applies empirical approaches based upon the principles of respondent and operant conditioning to change behavior of social significance."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "ABA therapy"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "behavioral engineering"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T18:07:09Z"
+ }, {
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+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001360",
"lbl" : "granulocyte morphology measurement",
@@ -237112,17 +238437,17 @@
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A determination of the number of echynocyte in a blood sample."
+ "val" : "A determination of the number of echinocyte in a blood sample."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "echynocyte cell count"
+ "val" : "echinocyte cell count"
}, {
"pred" : "hasExactSynonym",
- "val" : "echynocyte cell count measurement"
+ "val" : "echinocyte cell count measurement"
}, {
"pred" : "hasExactSynonym",
- "val" : "echynocyte count test"
+ "val" : "echinocyte count test"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -237235,15 +238560,15 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001377",
- "lbl" : "echynocyte morphology measurement",
+ "lbl" : "echinocyte morphology measurement",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A determination of the structure of echynocyte."
+ "val" : "A determination of the structure of echinocyte."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "echynocyte morphology assessment"
+ "val" : "echinocyte morphology assessment"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -237255,15 +238580,15 @@
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0001378",
- "lbl" : "langerhans cell morphology measurement",
+ "lbl" : "Langerhans cell morphology measurement",
"type" : "CLASS",
"meta" : {
"definition" : {
- "val" : "A determination of the structure of langerhans cell."
+ "val" : "A determination of the structure of Langerhans cell."
},
"synonyms" : [ {
"pred" : "hasExactSynonym",
- "val" : "langerhans cell morphology assessment"
+ "val" : "Langerhans cell morphology assessment"
} ],
"basicPropertyValues" : [ {
"pred" : "http://purl.org/dc/elements/1.1/date",
@@ -237453,6 +238778,1633 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001388",
+ "lbl" : "feeding therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Assessing and providing skills to eat better. Therapy is focused on tongue movements, chewing, swallowing, as well as other behaviors."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-13T18:37:03Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001396",
+ "lbl" : "diagnostic procedure of digestive system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the digestive system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "digestive system diagnostic procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "digestive system testing"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2019-01-15T19:35:36Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001397",
+ "lbl" : "therapeutic procedure of visual system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "All manners of treatment to bring visual system back to its normal state."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "visual system therapeutic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001398",
+ "lbl" : "diagnostic procedure of circulatory system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the circulatory system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "circulatory system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001399",
+ "lbl" : "diagnostic procedure of excretory system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the excretory system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "excretory system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001400",
+ "lbl" : "diagnostic procedure of exocrine system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the exocrine system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "exocrine system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001401",
+ "lbl" : "diagnostic procedure of genitourinary system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the genitourinary system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "genitourinary system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001402",
+ "lbl" : "diagnostic procedure of hematopoietic system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the hematopoietic system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "hematopoietic system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001403",
+ "lbl" : "diagnostic procedure of integumental system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the integumental system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "integumental system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001404",
+ "lbl" : "diagnostic procedure of skin",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the skin of body."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "skin diagnostic procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "skin of body diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001405",
+ "lbl" : "diagnostic procedure of musculoskeletal system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the musculoskeletal system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "musculoskeletal system diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
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+ }
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+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001406",
+ "lbl" : "diagnostic procedure of nervous system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the nervous system."
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+ "synonyms" : [ {
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+ "val" : "nervous system diagnostic procedure"
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+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001407",
+ "lbl" : "diagnostic procedure of reproductive system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the reproductive system."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "reproductive system diagnostic procedure"
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+ "val" : "2023-03-30T20:39:14Z"
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+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001408",
+ "lbl" : "diagnostic procedure of respiratory system",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
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+ "synonyms" : [ {
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+ "val" : "respiratory system diagnostic procedure"
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+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001409",
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+ "val" : "digestive system therapeutic procedure"
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+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001410",
+ "lbl" : "therapeutic procedure of cardiovascular system",
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+ "val" : "cardiovascular system therapeutic procedure"
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+ "lbl" : "therapeutic procedure of circulatory system",
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+ "meta" : {
+ "definition" : {
+ "val" : "All manners of treatment to bring circulatory system back to its normal state."
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+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the feces."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "feces diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001452",
+ "lbl" : "diagnostic procedure of urine",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the urine."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "urine diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001453",
+ "lbl" : "diagnostic procedure of interstitial fluid",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the interstitial fluid."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "interstitial fluid diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001454",
+ "lbl" : "diagnostic procedure of ocular refractive media",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the ocular refractive media."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "ocular refractive media diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001455",
+ "lbl" : "diagnostic procedure of aqueous humor of eyeball",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the aqueous humor of eyeball."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "aqueous humor of eyeball diagnostic procedure"
+ } ],
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001456",
+ "lbl" : "diagnostic procedure of vitreous humor",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the vitreous humor."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "vitreous humor diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001457",
+ "lbl" : "diagnostic procedure of pus",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the pus."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "pus diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001458",
+ "lbl" : "diagnostic procedure of reproductive gland secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the reproductive gland secretion."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "reproductive gland secretion diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001459",
+ "lbl" : "diagnostic procedure of female reproductive gland secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the female reproductive gland secretion."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "female reproductive gland secretion diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001460",
+ "lbl" : "diagnostic procedure of male reproductive gland secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the male reproductive gland secretion."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "male reproductive gland secretion diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001461",
+ "lbl" : "diagnostic procedure of respiratory system fluid/secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the respiratory system fluid/secretion."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "respiratory system fluid/secretion diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001462",
+ "lbl" : "diagnostic procedure of sputum",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the sputum."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "sputum diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001463",
+ "lbl" : "diagnostic procedure of exocrine gland secretion",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the secretion of exocrine gland."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "secretion of exocrine gland diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001464",
+ "lbl" : "diagnostic procedure of bile",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the bile."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "bile diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001465",
+ "lbl" : "diagnostic procedure of gastric juice",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the gastric juice."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "gastric juice diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001466",
+ "lbl" : "diagnostic procedure of semen",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the semen."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "semen diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
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+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001467",
+ "lbl" : "diagnostic procedure of organ",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Procedure to evaluate the structure and/or function of the organ."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "organ diagnostic procedure"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-30T20:39:14Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001468",
+ "lbl" : "surgical skin removal",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The surgical removal (cutting out) of part or all of zone of skin."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "skin excision"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "zone of skin surgical removal"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-03-31T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001469",
+ "lbl" : "farnesyltransferase inhibitor agent therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Use of a drug or agent that inhibits farnesyltransferase."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "farnesyltransferase inhibitor treatment"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_64133"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0003-4830-7530"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001470",
+ "lbl" : "MMP inhibitor agent therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Use of a drug or agent that inhibits matrix metalloprotease inhibitor."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_50664"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001471",
+ "lbl" : "tazarotene agent therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Treatment with a topical cream that is used to treat psoriasis."
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001473",
+ "lbl" : "benzothiadiazine derivative therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Treatment with a diuretic to treat hypertension or edema."
+ },
+ "basicPropertyValues" : [ {
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+ "val" : "2023-05-15T11:00:00Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001474",
+ "lbl" : "thyroid hormone therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Treatment with thyroid hormone or drugs replicating thyroid hormone to maintain a normally functioning thyroid."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_60311"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
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+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001475",
+ "lbl" : "sodium-glucose cotransporter-2 inhibitor therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Treatment with a class of medicines inhibit sodium-glucose cotransporter-2. Drugs are used with diet and exercise to lower blood sugar in adults with type 2 diabetes."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_73273"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0001476",
+ "lbl" : "somatostatin recepter agonist therapy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Treatment with an activator to the somatostatin receptor."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "treatment with http://purl.obolibrary.org/obo/CHEBI_177023"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-05-15T11:00:00Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0002000",
"lbl" : "cannabis consumption avoidance",
@@ -239647,29 +242599,6 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
- }, {
- "id" : "http://purl.obolibrary.org/obo/MAXO_0009098",
- "lbl" : "intraoral radiography",
- "type" : "CLASS",
- "meta" : {
- "definition" : {
- "val" : "A procedure whre the radiographic film or sensor is placed inside the mouth and uses small amounts of radiation to produce pictures of teeth and other oral structures."
- },
- "synonyms" : [ {
- "pred" : "hasExactSynonym",
- "val" : "intraoral x-ray procedure"
- }, {
- "pred" : "hasExactSynonym",
- "val" : "radiograph inside the mouth"
- } ],
- "basicPropertyValues" : [ {
- "pred" : "http://purl.org/dc/elements/1.1/date",
- "val" : "2023-02-20T17:13:55Z"
- }, {
- "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val" : "http://orcid.org/0000-0001-7941-2961"
- } ]
- }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0009099",
"lbl" : "clinical biospecimen swab collection",
@@ -245293,7 +248222,11 @@
"meta" : {
"definition" : {
"val" : "Treatment to correct or improve vision."
- }
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0025004",
@@ -245302,7 +248235,11 @@
"meta" : {
"definition" : {
"val" : "Use of glasses to correct vision."
- }
+ },
+ "basicPropertyValues" : [ {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
}
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0025005",
@@ -245457,6 +248394,29 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035002",
+ "lbl" : "intraoral radiography",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure whre the radiographic film or sensor is placed inside the mouth and uses small amounts of radiation to produce pictures of teeth and other oral structures."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "intraoral x-ray procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "radiograph inside the mouth"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-02-20T17:13:55Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035003",
"lbl" : "fluorescein angiography",
@@ -245473,6 +248433,35 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035004",
+ "lbl" : "fundoscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A visualization of the fundus of the eye including the retina and optic nerve with a fundoscope, a device that projects light through the pupil of the eye and visualizes the fundus with magnification."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "fundoscopic exam"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-02-24T19:06:03Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035005",
+ "lbl" : "circulating hormone measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of a particular hormone present in a blood sample."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035006",
"lbl" : "foot radiography",
@@ -245505,6 +248494,15 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035007",
+ "lbl" : "cerebrospinal fluid analysis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Analysis of a cerebrospinal fluid sample."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035008",
"lbl" : "shoulder radiograph procedure",
@@ -245534,6 +248532,42 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035009",
+ "lbl" : "examination by dentist",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A direct appraisal of a patient's condition by a dentist that is based on an oral exam, medical history, and the patient's account of symptoms."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035010",
+ "lbl" : "examination by neonatologist",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A direct appraisal by a professional who is an expert in premature babies or newborns with high-risk or complex health conditions. The physician performs a physical exam and takes medical history."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035011",
+ "lbl" : "enzyme activity assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of the functionality of an enzyme."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035012",
+ "lbl" : "perimetry examination",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test that measures all areas of your eyesight including peripheral vision."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035014",
"lbl" : "MRI of the spinal cord",
@@ -245560,6 +248594,150 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035015",
+ "lbl" : "visual acuity assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test to determine the smallest letters a patient can clearly see."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035017",
+ "lbl" : "hair microscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Microscopic examination of the hair (also called hair microscopy) is an inexpensive tool that may aid in the diagnosis of systemic disorders as the appearance, structure, and/or growth of hair are modified in various congenital and acquired diseases. (PMID:34843009)"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035018",
+ "lbl" : "leukocyte enzyme activity assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of the functionality of an enzyme derived from leukocytes."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035019",
+ "lbl" : "erythrocyte enzyme activity assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of the functionality of an enzyme derived from erythrocytes."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035020",
+ "lbl" : "tissue enzyme activity assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of the functionality of an enzyme derived from a particular tissue"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035023",
+ "lbl" : "tissue metabolite measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of metabolites present in a particular tissue."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035024",
+ "lbl" : "high-resolution pulmonary computed tomography",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A type of CT where the image resolution is enhanced to look at lung disease."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035025",
+ "lbl" : "in vitro DNA repair study",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test that measures DNA damage/breakage in patient cells. DNA damage repair plays an important role in cancer's initiation and progression, and in therapeutic resistance."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035026",
+ "lbl" : "circulating immunoglobulin measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of immunoglobulins present in a blood sample."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035027",
+ "lbl" : "blood gas assessment in umbilical cord blood",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test that measures the amount of oxygen, carbon dioxide, and pH in the blood of the umbilical cord."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035028",
+ "lbl" : "L-selectin shedding study",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "This test is used to measure the amount of L-Selectin (CD62L) shed from the surface of neutrophils before and after stimulation of the TLR pathway. The test can help identify patients with defects in their toll-like receptor signalling pathway and can be used to diagnose IRAK-4, MyD88 and UNC93B deficiency. (NHS)"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035029",
+ "lbl" : "cerebrospinal fluid metabolite measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of metabolites present in a cerebrospinal fluid sample."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035030",
+ "lbl" : "gastrointestinal transit measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The time an indigestible, non-absorbable markers takes to be excreted."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035031",
+ "lbl" : "stool xenobiotic measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of xenobiotics (a chemical foreign to the body) present in a stool sample."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035032",
+ "lbl" : "gastric fluid xenobiotic measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of xenobiotics (a chemical foreign to the body) present in gastric fluid."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035033",
+ "lbl" : "hair xenobiotic measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of xenobiotics (a chemical foreign to the body) present in a hair sample."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035034",
"lbl" : "pelvis MRI",
@@ -245621,6 +248799,38 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035036",
+ "lbl" : "blood culture procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A laboratory test in which blood, taken from the patient, is inoculated into bottles containing culture media to determine whether infection-causing microorganisms (bacteria or fungi) are present in the patient's bloodstream."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035037",
+ "lbl" : "gastroscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Inspection of stomach using an endoscope."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "endoscopy of stomach"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "stomach endoscope"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-19T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035038",
"lbl" : "contrast angiography procedure",
@@ -245666,6 +248876,47 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035040",
+ "lbl" : "abdominal paracentesis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure where fluid is removed from the abdomen using a needle."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035041",
+ "lbl" : "neurodevelopmental assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A comprehensive set of tests designed to assess all aspects of a child's development, including cognition, language, motor, and social skills."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035042",
+ "lbl" : "duodenoscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Inspection of duodenum using an endoscope."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "duodenum endoscope"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "endoscopy of duodenum"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-19T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035043",
"lbl" : "upper limb radiography",
@@ -245698,6 +248949,59 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035044",
+ "lbl" : "cardiac CT",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The use of computed tomography to produce images of structures of the heart."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "CAT scan of heart"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "CT of heart"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "heart CAT scan"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "heart CT examination"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "heart computed tomography"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "heart computerized axial tomography"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-19T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-3010"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035046",
+ "lbl" : "esophageal manometry",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A motility study to assess motor function of the upper esophageal sphincter, esophageal body and lower esophageal sphincter."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035047",
+ "lbl" : "stool metabolite measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of metabolites present in a stool sample."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035048",
"lbl" : "upper GI radiography with contrast",
@@ -245800,6 +249104,36 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035052",
+ "lbl" : "hip radiography",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Use of an imaging test that uses small amounts of radiation to produce pictures of hip."
+ },
+ "comments" : [ "." ],
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "hip X-ray procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "hip radiogram procedure"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "radiograph of hip"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "radiography of hip"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-19T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035053",
"lbl" : "ovary ultrasonography",
@@ -245844,6 +249178,193 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035054",
+ "lbl" : "protein glycosylation assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Assessment of the degree or kind of protein glycosylation (covalent attachment of a carbohydrate moiety to a protein)."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035055",
+ "lbl" : "flow cytometry procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A technique for counting, examining and sorting microscopic particles suspended in a stream of fluid. NCIT:C16585"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035057",
+ "lbl" : "reproductive endocrinologist assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Reproductive endocrinology and infertility is a surgical subspecialty of obstetrics and gynecology that trains physicians in reproductive medicine addressing hormonal functioning as it pertains to reproduction as well as the issue of infertility."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035058",
+ "lbl" : "hormone measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of a particular hormone present in a sample."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035059",
+ "lbl" : "nerve conduction study",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test to determine the electrical conduction of the motor and sensory nerves of the human body."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035060",
+ "lbl" : "central motor conduction time study",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The time taken for neural impulses to travel through the central nervous system on their way to the target muscles. PMID: 24112910"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035061",
+ "lbl" : "pelvic CT",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The use of computed tomography to produce images of structures of the bony pelvis."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "CAT scan of bony pelvis"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "CT of bony pelvis"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "CT of pelvis"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "bony pelvis CAT scan"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "bony pelvis CT examination"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "bony pelvis computed tomography"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "bony pelvis computerized axial tomography"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-12T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-3010"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035062",
+ "lbl" : "urine hormone measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of a particular hormone present in a sample of urine."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035063",
+ "lbl" : "jerk-locked averaging",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A technique that combines EEG and EMG to assess myoclonus; it use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger. PMID: 1464676"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035064",
+ "lbl" : "electron microscopic study",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The transmission electron microscope (TEM) is a diagnostic tool to screen human tissues at high magnification to visualize the ultrastructural level."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035065",
+ "lbl" : "dentist evaluation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure where a dental professional who was not previously involved in a patient's treatment, reviews a patient's medical history, examines the patient, and makes recommendations as to care and treatment."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035066",
+ "lbl" : "somatosensory evoked potential assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of somatosensory evoked potentials (SEPs), which reflect the electrical activity of the brain that results from the stimulation of touch. SEP monitoring may be employed intraoperatively to identify, and ideally, avoid impending permanent damage to neurologic structures. PMID: 31335078"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035067",
+ "lbl" : "perchlorate discharge test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "In the perchlorate discharge test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid, and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035068",
+ "lbl" : "natural killer cell function test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An assay of the physiology of natural killer (NK) cells."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035069",
+ "lbl" : "dysmorphology assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Dysmorphology refers to the study of human congenital malformations and syndromes. A dysmorphology evaluation includes an assessment of facial features and also features of the entire body especially with respect to manifestations of hereditary (Mendelian) disease)."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035071",
+ "lbl" : "reactive oxygen species measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The determination of the amount of reactive oxygen species present in the sample."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "reactive oxygen species assessment"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "reactive oxygen species test"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2022-04-12T13:40:00Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035072",
"lbl" : "leukocyte morphology measurement",
@@ -245913,6 +249434,60 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035075",
+ "lbl" : "sperm analysis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Quantification of sperm cell characteristics, including morphology, motility, and number."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035076",
+ "lbl" : "complement assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A complement test is a blood test that measures the activity of one or more proteins that make up the complement system in blood circulation."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035077",
+ "lbl" : "functional T cell assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The test measures the T cell responses to antigens of common infections as well as to mitogens, allowing detection of deficiencies in this arm of the immune response."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035078",
+ "lbl" : "pulmonary function testing",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A complete evaluation of the respiratory system including patient history, physical examinations, and tests of pulmonary function. The primary purpose of pulmonary function testing is to identify the severity of pulmonary impairment."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035079",
+ "lbl" : "neonatologist evaluation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Examination by a doctor who specializes in the care of newborn babies."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035080",
+ "lbl" : "apoptosis assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test to determine if cells are undergoing programmed cell death."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035082",
"lbl" : "barium swallow radiograph procedure",
@@ -245943,6 +249518,24 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035083",
+ "lbl" : "CT urogram",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Computed tomography (CT) examination of the kidneys, ureters and bladder following administration of intravenous contrast material."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035084",
+ "lbl" : "fructose tolerance test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Determination of serum uric acid following the administration of an oral bolus of fructose to assess the ability of an individual to digest fructose."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035085",
"lbl" : "cervical spine radiogrphy",
@@ -246065,6 +249658,115 @@
"val" : "https://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035089",
+ "lbl" : "nasal endoscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Inspection of nasal vestibule using an endoscope."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "endoscopy of nasal vestibule"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "nasal vestibule endoscope"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-12T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035090",
+ "lbl" : "hepatobiliary iminodiacetic acid scan",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An imaging procedure in which a radioactive tracer is injected intravenously. The tracer is taken up by bile producing cells and subsequently travels with the bile into the gallbladder and through the bile ducts to the small intestine. THe hepatobiliary iminodiacetic acid (HIDA) scan can be used to visualize the liver, gallbladder and bile ducts."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035091",
+ "lbl" : "electromyography procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Electromyography (EMG) is a diagnostic procedure that evaluates the muscle response to electrical impulses from the nerves that control them, called motor neurons. The test is used to help detect neuromuscular abnormalities. It is usually performed after a nerve conduction study."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035092",
+ "lbl" : "fractional excretion assessment",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A kind of renal function test that assesses the proportion of electrolytes that are retained (or excreted) by the kidney (primarily the renal tubule)."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035093",
+ "lbl" : "erythrocyte sedimentation rate measurement",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A measurement of the speed at which red blood cells in anticoagulated whole blood descend in a standardized tube in one hour. Increased erythrocyte sedimentation rate is a nonspecific sign of inflammation."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035094",
+ "lbl" : "platelet aggregation assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An assessment of how well platelets aggregate (clump together) in the process of blood clotting."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035095",
+ "lbl" : "venography procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Radiographic examination of veins following injection of contrast material."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "vein radiograph"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/contributor",
+ "val" : "https://orcid.org/0000-0002-0736-9199"
+ }, {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-12T17:56:44Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "https://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035096",
+ "lbl" : "breath hydrogen test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The hydrogen breath test is a noninvasive procedure to diagnose dietary intolerance (e.g., lactose or galactose intolerance) and related conditions by measuring the amount of hydrogen exhaled in the breath following ingestion of the relevant sugar."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035097",
+ "lbl" : "visual evoked potential procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An evaluation of the visual pathway of the nervous system by means of analysis of electrical waves measured by electrodes that are applied to the head."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/MAXO_0035098",
"lbl" : "biopsy of artery",
@@ -246085,6 +249787,209 @@
"val" : "http://orcid.org/0000-0001-7941-2961"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035099",
+ "lbl" : "electroretinogram procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The electroretinogram (ERG) is a diagnostic test that measures the electrical activity of the retina in response to a light stimulus."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035100",
+ "lbl" : "applanation tonometry",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test used to measure interocular pressure."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035101",
+ "lbl" : "phrenic nerve stimulation test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A test that applied electric or magnetic stimulation to the neck to measure the response of the phrenic nerve."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035102",
+ "lbl" : "water deprivation test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "The water deprivation test, also known as the indirect water deprivation test should potentially be able to distinguish the various forms of DI. Deprivation of water intake should allow patients with primary polydipsia to concentrate their urine while those with central or nephrogenic DI continue to excrete dilute urine. Administration of desmopressin (Deamino-8-D-arginine vasopressin), the synthetic analog of AVP, after water deprivation should help with differentiating patients with central DI from those with nephrogenic DI as the former should be able to concentrate the urine once the deficient action of AVP is replaced with desmopressin, while the latter should not show a significant response due to end-organ resistance to the action of AVP or its analogs. PMID:30779536"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035103",
+ "lbl" : "refraction test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A vision test that determines the presence of myopia, hyperopia, or astigmatism."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035104",
+ "lbl" : "motor evoked potential evaluation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A neurophysiological examination that monitors the corticospinal tract beginning with a stimulus at the motor cortex, which travels along the corticospinal tract of the spinal cord to the nerve root, and then the peripheral nerve before terminating in a muscle belly. PMID:35593855"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035105",
+ "lbl" : "salivary cortisol test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A determination of the amount of protein present in blood"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035106",
+ "lbl" : "paracentesis",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure that removes peritoneal fluid from the abdomen (peritoneal cavity) through a needle or catheter to obtain ascitic fluid for diagnostic or therapeutic purposes."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035107",
+ "lbl" : "biopsy of carotid artery",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Removal and examination of tissue, cells, or fluids from carotid artery segment for the purpose of detecting or characterizing disease."
+ },
+ "synonyms" : [ {
+ "pred" : "hasExactSynonym",
+ "val" : "carotid artery biopsy"
+ }, {
+ "pred" : "hasExactSynonym",
+ "val" : "carotid artery segment biopsy"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.org/dc/elements/1.1/date",
+ "val" : "2023-04-12T20:39:14Z"
+ }, {
+ "pred" : "http://www.geneontology.org/formats/oboInOwl#created_by",
+ "val" : "http://orcid.org/0000-0001-7941-2961"
+ } ]
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035108",
+ "lbl" : "sweat electrolyte test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A quantitative measurement of the amount of an electrolyte present in sweat."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035109",
+ "lbl" : "immune complex assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An assay to assess the presence of immune complexes in the blood circulation."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035110",
+ "lbl" : "gustatory testing",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A medical test that evaluates the ability to taste. The tests are either chemical or electrical in nature. Chemical testing uses the natural stimuli and chemical tastants (sweet, sour, salty, bitter, and umami) to assess taste, whereas electrical testing adopts electrical currents applied directly to the surface of the tongue. Other investigations are employed in the assessment of gustatory dysfunction, such as certain imaging techniques, though these are not as useful in quantifying taste disorders. PMID:33620811"
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035113",
+ "lbl" : "platelet transmission electron microscopy",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A type of electron microscopy in which a beam of electrons is transmitted through a thin section in order to visualize the internal structures of platelets."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035114",
+ "lbl" : "immune cell function assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Measurement of peripheral blood lymphocyte response following stimulation to assess the degree of functionality of the cell-mediated immune response. A variety of tests exist to measure intracellular ATP levels, proliferation, and other functional responses."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035115",
+ "lbl" : "diffusion weighted cerebral MRI",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A type of cerebral magnetic resonance (MR) imaging that measures random Brownian motion of water molecules within each voxel of imaged brain tissue."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035117",
+ "lbl" : "cardiac exercise stress test",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A type of cardiac test in which the patient walks on a treadmill or rides a stationary bike, while cardiovascular parameters such as heart rhythm, blood pressure and breathing are measured."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035118",
+ "lbl" : "cardiac catheterization",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A procedure in which a catheter (thin hollow tube) is threaded into the heart via a large blood vessel, generally with contrast dye being injected through the catheter to visualize the heart chambers and coronary arteries."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035119",
+ "lbl" : "duplex ultrasound with color flow imaging",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "A form of Doppler ultrasound examination that examines blood vessels and blood flow."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035120",
+ "lbl" : "cardiac auscultation",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "Investigation of heart sounds with a stethoscope."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035121",
+ "lbl" : "electrooculogram procedure",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An electrophysiologic test that measures the existing resting electrical potential between the cornea and Bruch's membrane. The most common use of the electrooculogram is to confirm disease."
+ }
+ }
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/MAXO_0035122",
+ "lbl" : "cell function assay",
+ "type" : "CLASS",
+ "meta" : {
+ "definition" : {
+ "val" : "An assessment of cell function."
+ }
+ }
}, {
"id" : "http://purl.obolibrary.org/obo/NBO_0000001",
"lbl" : "body part movement",
@@ -274969,6 +278874,43 @@
"val" : "http://purl.obolibrary.org/obo/RO_0001901"
} ]
}
+ }, {
+ "id" : "http://purl.obolibrary.org/obo/RO_0002103",
+ "lbl" : "synapsed by",
+ "type" : "PROPERTY",
+ "meta" : {
+ "definition" : {
+ "val" : "Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. "
+ },
+ "xrefs" : [ {
+ "val" : "RO:0002103"
+ } ],
+ "basicPropertyValues" : [ {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000114",
+ "val" : "http://purl.obolibrary.org/obo/IAO_0000125"
+ }, {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000117",
+ "val" : "https://orcid.org/0000-0002-6601-2165"
+ }, {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000117",
+ "val" : "https://orcid.org/0000-0002-7073-9172"
+ }, {
+ "pred" : "http://purl.obolibrary.org/obo/IAO_0000424",
+ "val" : " Download OpenAPI specification:Download This is restful server for Human Phenotype Ontology. Please do not hesistate to contact us for features or submit bug reports on our github. Use this to find anything in our data. Could be one of identifier (HPO, OMIM, ORPHA), an entrez id, or text. an upper limit for docs to return. [-1 for all] a page offset when max value is set filter search down to a category Use this to allow a search of the top level terms like modifier or onset. Works well with autocomplete A valid human phenotype ontology identifier a search string to look for [empty string returns everything under anchor]Human Phenotype Ontology API (1.7.13)
Search terms, diseases or genes
query Parameters
q max offset category Responses
Anchor descendant search starting from the given hpo term id
query Parameters
s q Responses