diff --git a/missing_translations/chinese.txt b/missing_translations/chinese.txt index 24f6edb..4686ffd 100644 --- a/missing_translations/chinese.txt +++ b/missing_translations/chinese.txt @@ -1,48 +1,65 @@ + Elevated urinary coproporphyrin level (HP:6000536) Gingival fragility (HP:0034518) Elevated brain glycine level by MRS (HP:0034893) Anti-platelet antigen antibody positivity (HP:4000170) + Elevated stool chloride content (HP:0034470) + Thickened mitral valve cusp (HP:6000342) + Increased circulating interleukin 1beta concentration (HP:6000374) Impaired heel-walking ability (HP:6000490) Pancreatic atrophy (HP:6000156) + Thick oral frenulum (HP:0034414) Social disinhibition (HP:5200029) Insistence on sameness (HP:5200130) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) Ectopic testis (HP:6000460) Lumbar hypolordosis (HP:0034770) Decreased social interactions (HP:5200310) + Elevated circulating desmosterol concentration (HP:0034937) Elevated urinary L-glycerate level (HP:6000670) Elevated urine fumaric acid level (HP:0034648) Anti-intrinsic factor antibody positivity (HP:6000344) Decreased circulating thyroglobulin concentration (HP:6000244) Synkinesis (HP:0034980) Elevated circulating lathosterol concentration (HP:0034936) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) Duodenal gastrinoma (HP:0034953) + Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199) Hippocampal malrotation (HP:0034396) Incomplete right bundle branch block (HP:6000313) Empty sella turcica (HP:6000483) + Increased circulating interleukin 18 concentration (HP:0034447) Abnormal response to social norms (HP:5200123) Finger joint contracture (HP:0034681) Obstipation (HP:0034782) Social Anxiety (HP:6000029) Left atrial fibrosis (HP:6000691) Selective mutism (HP:5200001) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) Atypical sorting (HP:5200049) Aggression towards others (HP:5200125) Mitral chordae tendinae rupture (HP:0034419) + Decreased urinary uromodulin level (HP:0034886) Sensory behavioral abnormality (HP:5200046) Self-healing squamous epithelioma (HP:0034720) Abnormal affect (HP:5200261) Forearm (HP:6000299) Wide cavum septum pellucidum (HP:0034964) Squamosal suture synostosis (HP:6000612) + Positive Mycobacterium avium sputum culture (HP:0430108) Elevated urine 3-hydroxyglutaric level (HP:0034656) Anti-thyroid antibody positivity (HP:0430050) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) Decreased seeking of relationships (HP:5200320) + Steroetypic upper-extremity movements (HP:5200018) + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208) + Large joint hypermobilty (HP:0430047) Atypical teratoid/rhabdoid tumor (HP:0034401) Phobia (HP:5200232) Polychromasia (HP:0034609) Elevated circulating S-sulfocysteine concentration (HP:0034745) Shark teeth (HP:4000168) Ankle contracture (HP:0034677) + Shoulder contracture (HP:0034665) Hepatic sinusoidal dilatation (HP:0035006) Radioulnar subluxation (HP:6000506) Elevated urinary creatine level (HP:0034598) @@ -50,7 +67,10 @@ Hepatic hemophagocytosis (HP:0034797) Small joint hypermobilty (HP:0430046) Reduced circulating NT-proANP concentration (HP:6000693) + Axillary lymphadenopathy (HP:0034752) + Abnormal eye contact (HP:0034435) Keratinocyte vacuolization (HP:0034703) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199) Elevated urine 3-hydroxypropionic acid level (HP:0034661) diff --git a/missing_translations/dutch.txt b/missing_translations/dutch.txt index 84fcb7c..286bcfb 100644 --- a/missing_translations/dutch.txt +++ b/missing_translations/dutch.txt @@ -1,281 +1,176 @@ - Persistent asymmetrical tonic neck reflex (HP:0032549) Tapered distal phalanges of finger (HP:0009884) - Livedo reticularis (HP:0033505) - Increased CSF glycine concentration (HP:0500230) + Increased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410395) Acral overgrowth (HP:0033794) Testicular pain (HP:0033839) Trident hand (HP:0004060) Notched primary central incisor (HP:0012413) - Sudden unexpected death in epilepsy (HP:0033258) Tarlov cyst (HP:0025643) - Hypergastrinemia (HP:0500167) Recurrent shingles (HP:0032275) Pancreatic atrophy (HP:6000156) Anti-dsDNA antibody positivity (HP:0020151) Auricular pit (HP:0030025) - Anti-ganglioside antibody positivity (HP:0031810) - Male urethral meatus stenosis (HP:0032077) - Median pseudocleft lip (HP:0034185) - Decreased social interactions (HP:5200310) - Aortopulmonary collateral arteries (HP:0031834) Increased circulating free fatty acid level (HP:0030781) - Hypoisoleucinemia (HP:0500144) - Moderate to late preterm birth (HP:0025664) - Delayed ability to roll over (HP:0032989) - Convulsive status epilepticus (HP:0032660) - Hypovalinemia (HP:0500132) Increased circulating interleukin 10 concentration (HP:0033199) Reduced galactocerebrosidase activity (HP:0034322) + Decreased proportion of naive CD8 T cells (HP:0410377) Alveolar ridge overgrowth (HP:0009085) - Atrichia (HP:0500262) - Joint contracture (HP:0034392) Reduced antigen-specific T cell proliferation (HP:0031402) - Synkinesis (HP:0034980) - Increased circulating IgG2 level (HP:0032299) - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403) Target cells (HP:0034280) - Decreased body fat percentage (HP:0041079) Impaired urinary acidification (HP:0031033) - Bone spicule pigmentation of the retina (HP:0007737) - 2-hydroxyglutarate aciduria (HP:0032278) Persistent CMV viremia (HP:0032247) Partial absence of specific antibody response to tetanus vaccine (HP:0410297) - EEG with focal sharp waves (HP:0011196) - Lupus nephritis (HP:0033726) Hippocampal malrotation (HP:0034396) Renal cortical hyperechogenicity (HP:0033132) EEG with abnormally slow frequencies (HP:0011203) Egg allergy (HP:0410328) - Abnormal circulating IgG level (HP:0410242) Collectionism (HP:0030212) Finger joint contracture (HP:0034681) - Absent sebaceous glands (HP:0410400) - Traction bronchiectasis (HP:0032969) Fetal pericardial effusion (HP:0025671) - Leg dystonia (HP:0031959) Dimple chin (HP:0010751) Hypomature enamel (HP:0033786) Internally nucleated skeletal muscle fibers (HP:0031237) - Reduced cerebral white matter volume (HP:0034295) - Aplasia of the olfactory bulb (HP:0032466) - Action myoclonus (HP:0034360) - Upgaze palsy (HP:0025331) Elevated left ventricular end-diastolic diameter (HP:0034307) - Micrographia (HP:0031908) - Focal cortical dysplasia type III (HP:0032054) Increased level of hippuric acid in urine (HP:0410066) Reduced progressive sperm motility (HP:0034011) - Generalized-onset motor seizure (HP:0032677) - Anti-islet antigen-2 antibody positivity (HP:0034063) + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208) Left ventricular outflow tract obstruction (HP:0032092) EEG with central sharp slow waves (HP:0011291) Flushing (HP:0031284) + Recurrent gingivitis (HP:0034284) EEG with polyspike wave complexes (HP:0002392) Severe giardiasis (HP:0020106) Cleft anterior mitral valve leaflet (HP:0011569) - Elevated circulating S-sulfocysteine concentration (HP:0034745) - Focal cortical dysplasia (HP:0032046) Left ventricular noncompaction (HP:0030682) Hypoesthesia (HP:0033748) Dairy allergy (HP:0410327) - Anteverted ears (HP:0040080) - Prominent subcalcaneal fat pad (HP:0032276) Radioulnar subluxation (HP:6000506) EEG with generalized sharp slow waves (HP:0011199) Hypoleucinemia (HP:0500143) 2:1 atrioventricular block (HP:0034305) - Enlarged sylvian cistern (HP:0100952) Elevated urinary creatine level (HP:0034598) EEG with intermittent slow activity (HP:0011205) Usual interstitial pneumonia (HP:0031950) Self hugging (HP:0032521) - EEG with continuous slow activity (HP:0011204) - Small joint hypermobilty (HP:0430046) - Abnormal HDL cholesterol concentration (HP:0031888) + Abnormal prothrombin time (HP:0032199) + Delayed ability to walk with support (HP:0033257) Food allergy (HP:0500093) - Delayed ability to walk (HP:0031936) - Elevated red cell adenosine deaminase activity (HP:0030270) - Retinopathy of prematurity (HP:0500049) - Focal cortical dysplasia type Ib (HP:0032049) - Gingival fragility (HP:0034518) - Scissor gait (HP:0012407) + Elevated fecal sodium (HP:0032484) Acute respiratory distress syndrome (HP:0033677) + Thickened mitral valve cusp (HP:6000342) Question mark ear (HP:0030022) Cryptococcal meningitis (HP:0032160) - Abnormal cranial nerve physiology (HP:0031910) - Impaired heel-walking ability (HP:6000490) Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301) Malaise (HP:0033834) - Social disinhibition (HP:5200029) - Insistence on sameness (HP:5200130) Ectopic testis (HP:6000460) Lumbar hypolordosis (HP:0034770) Cognitive regression (HP:0034332) - Elevated urine fumaric acid level (HP:0034648) - Elevated circulating glutarylcarnitine concentration (HP:0033442) Increased CSF glutamate concentration (HP:0500200) + Reduced fecal osmolality (HP:0032487) Increased fecal calprotectin level (HP:0034056) Hepatic bridging fibrosis (HP:0012852) - Motor regression (HP:0033044) Clonic seizure (HP:0020221) Decreased circulating thyroglobulin concentration (HP:6000244) Hypometric upward saccades (HP:0031833) - Howell-Jolly bodies (HP:0032550) Elevated circulating lathosterol concentration (HP:0034936) - Seafood allergy (HP:0410333) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) Anhydramnios (HP:0025700) + Decreased circulating hepcidin concentration (HP:0031876) Bilateral superior vena cava (HP:0033379) Pappenheimer bodies (HP:0020081) - Duodenal gastrinoma (HP:0034953) + Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199) Chronotropic incompetence (HP:0033992) Histoplasmosis (HP:0032256) Elevated urinary 2-hydroxybutyric acid (HP:0033409) Persistent head lag (HP:0032988) - Cobblestone-like hyperkeratosis (HP:0031288) - Absent fetal nasal bone (HP:0025706) Increased circulating creatine kinase MM isoform (HP:0032234) - Hypocystinemia (HP:0500152) - Giant neutrophil granules (HP:0032499) - Vertebral artery aneurysm (HP:0034179) - EEG with central sharp waves (HP:0011293) - Molluscum contagiosum (HP:0032163) - Left atrial fibrosis (HP:6000691) Candida esophagitis (HP:0033351) - Selective mutism (HP:5200001) Very low visual acuity (HP:0032122) Sensory seeking (HP:4000079) Atypical sorting (HP:5200049) - Aggression towards others (HP:5200125) - Squared iliac bones (HP:0003177) - Ultra-low vision with retained light perception (HP:0032286) - Bone marrow maturation arrest (HP:0033606) + Central core regions in muscle fibers (HP:0030230) Mitral chordae tendinae rupture (HP:0034419) - Abnormal circulating IgM level (HP:0410243) - EEG with occipital focal spikes (HP:0012016) Abnormal affect (HP:5200261) - Z-band streaming (HP:0020203) Wide cavum septum pellucidum (HP:0034964) Hypertaurinemia (HP:0500181) - Squamosal suture synostosis (HP:6000612) + Anti-thyroglobulin antibody positivity (HP:0032069) Darwin tubercle of helix (HP:0011261) BCGitis (HP:0020086) - Elevated urine 3-hydroxyglutaric level (HP:0034656) Alkaline urine (HP:0032944) - Tented upper lip vermilion (HP:0010804) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) - Brain imaging abnormality (HP:0410263) - Anti-insulin antibody positivity (HP:0034062) Medial flaring of the eyebrow (HP:0010747) + Large joint hypermobilty (HP:0430047) Severe varicella zoster infection (HP:0032170) - Meconium stained amniotic fluid (HP:0012420) Atypical teratoid/rhabdoid tumor (HP:0034401) - Pinguecula (HP:0031830) - Phobia (HP:5200232) - Nut food product allergy (HP:0410331) - EEG with parietal sharp slow waves (HP:0011288) + Acidemia (HP:0032368) + Aborted sudden cardiac death (HP:0031628) Pulmonary cyst (HP:0032445) Keratosis pilaris (HP:0032152) - Ankle contracture (HP:0034677) - Hot cross bun sign (HP:0041056) Periventricular nodular heterotopia (HP:0032388) Mildly reduced visual acuity (HP:0032037) - Paget disease of bone (HP:0034159) EEG with focal sharp slow waves (HP:0011195) - Focal impaired awareness autonomic seizure (HP:0032755) - Percussion-induced rapid rolling muscle contractions (HP:0003760) Type II pneumocyte hyperplasia (HP:0033328) - T-wave alternans (HP:0012266) - Limited ankle dorsiflexion (HP:0033526) - Elevated circulating aspartate aminotransferase concentration (HP:0031956) - Dependency on parenteral nutrition (HP:0033994) - Deep dermatophytosis (HP:0032515) - Myofiber disarray (HP:0031318) - Hand paresthesia (HP:0033660) - Chiari type II malformation (HP:0025660) + Axillary lymphadenopathy (HP:0034752) Reduced granulocyte CD18 level (HP:0032455) - EEG with central focal spikes (HP:0012014) - Abnormal facility in opposing the shoulders (HP:0005259) - Anti-platelet antigen antibody positivity (HP:4000170) Polyembolokoilamania (HP:0032508) Punctate palmoplantar hyperkeratosis (HP:0007530) - Elevated gamma-glutamyltransferase level (HP:0030948) - Fiber type grouping (HP:0033685) - Abnormal reflex (HP:0031826) + Genital warts (HP:0032301) Claw hand deformity (HP:0034337) Continuous spike and waves during slow sleep (HP:0031491) Fetal chylothorax (HP:0025677) Sleep onset insomnia (HP:0031354) - Hippocampal sclerosis (HP:0033715) Diminished ability to concentrate (HP:0031987) Podocyte foot process effacement (HP:0031266) - Tonic seizure (HP:0032792) Akathisia (HP:0031943) - Eosinophilic infiltration of the esophagus (HP:0410151) - Abnormal LDL cholesterol concentration (HP:0031886) - Wide nasal ridge (HP:0012811) - Elevated urinary L-glycerate level (HP:6000670) + Elevated circulating desmosterol concentration (HP:0034937) + Decreased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410389) Anti-intrinsic factor antibody positivity (HP:6000344) - Decreased proportion of gamma-delta T cells (HP:0500271) + Cytomegalovirus colitis (HP:0033431) Thick vermilion border (HP:0012471) - Weakness of facial musculature (HP:0030319) + Orange urine (HP:0032002) + Abnormal glucose-6-phosphate dehydrogenase level in blood (HP:0410177) EEG with temporal sharp slow waves (HP:0011289) - Sleep-wake inversion (HP:0031849) - Skewfoot (HP:0032649) - Eosinophilic pneumonia (HP:0032071) - Iliac artery aneurysm (HP:4000067) - Platelet anisocytosis (HP:0032438) + Pilocytic astrocytoma (HP:0033680) + Focal impaired awareness tonic seizure (HP:0032724) + Decreased CSF glutamine concentration (HP:0500198) Elbow contracture (HP:0034391) Incomplete right bundle branch block (HP:6000313) Increased femoral anteversion (HP:0012427) - Empty sella turcica (HP:6000483) + Hypoglutaminemia (HP:0500147) + Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979) Hyperactive Achilles reflex (HP:0033206) Ventricular bigeminy (HP:0034306) Simple ear (HP:0020206) Decreased proportion of CD4-positive, alpha-beta memory T cells (HP:0410386) - Spherophakia (HP:0034375) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) Lester's sign (HP:0009781) - Valvular pulmonary stenosis (HP:0034350) Abnormal diffusion weighted cerebral MRI morphology (HP:0032615) Hypohomocysteinemia (HP:0020222) - Renal interstitial foam cells (HP:0032582) - Premature sagging cheeks (HP:0034273) - Hypoplastic optic chiasm (HP:0034311) Bilobate gallbladder (HP:0005608) - Increased circulating troponin T concentration (HP:0410174) - Elevated haptoglobin level (HP:0020180) - Limited shoulder flexion (HP:0033482) Anti-thyroid antibody positivity (HP:0430050) Decreased seeking of relationships (HP:5200320) - Trident acetabulum (HP:0034374) + Pulmonary nodule (HP:0033608) Freezing of gait (HP:0031825) - Shark teeth (HP:4000168) + Increased proportion of plasmablasts (HP:0032128) Livedo racemosa (HP:0033260) - Hepatic sinusoidal dilatation (HP:0035006) - Aplasia of the olfactory tract (HP:0020128) + Pronoun reversal (HP:4000073) EEG with frontal focal spikes (HP:0012015) - EEG with frontal sharp waves (HP:0011294) Decreased serum bicarbonate concentration (HP:0032066) Chronic tinea infection (HP:0032259) Abnormal isoelectric focusing of serum transferrin (HP:0003160) Mild malformation of cortical development (HP:0032059) Focal aware motor seizure (HP:0020217) EEG with focal spike waves (HP:0011197) - Polyminimyoclonus (HP:0031986) - Abnormal hair whorl (HP:0010721) + Abnormal eye contact (HP:0034435) Perifollicular fibroma (HP:0032225) - Abnormally low T cell receptor excision circle level (HP:0031545) - Reduced haptoglobin level (HP:0020181) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) - Ultra-low vision with retained light projection (HP:0032285) Ultra-low vision with no light perception (HP:0032287) Reduced antral follicle count (HP:0033085) Focal cortical dysplasia type Ia (HP:0032048) Vertebral artery tortuosity (HP:0033981) Appendicular spasticity (HP:0034353) EEG with frontal sharp slow waves (HP:0011290) - Flared femoral metaphysis (HP:0002834) Beevor's sign (HP:0030664) - Elevated brain glycine level by MRS (HP:0034893) Increased intramyocellular lipid droplets (HP:0012240) Spastic triplegia (HP:0034183) Inspiratory crackles (HP:0031996) @@ -284,88 +179,277 @@ Aphthous ulcer (HP:0032154) Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305) Abnormal circulating IgA level (HP:0410240) - Abnormality of pulmonary circulation (HP:0030875) - EEG with temporal focal spikes (HP:0012018) - Elevated circulating alanine aminotransferase concentration (HP:0031964) Weak grip (HP:0033466) Fractured elbow (HP:0041219) - EEG with occipital sharp waves (HP:0011292) Nocturnal seizures (HP:0031951) - Chronic cough (HP:0034315) Impaired tandem gait (HP:0031629) Metaphyseal cupping (HP:0003021) Anti-acetylcholine receptor antibody positivity (HP:0030208) Distal joint hypermobility (HP:0020152) - EEG with temporal sharp waves (HP:0011296) BCGosis (HP:0020087) Anti-Sm antibody positivity (HP:0033040) Ductus venosus agenesis (HP:0034196) - Butterfly vertebral arch (HP:0004617) - Presyncope (HP:0031972) - EEG with occipital slowing (HP:0011210) Decreased circulating total IgG (HP:0032132) - Internal notch of the femoral head (HP:0031027) Circumoral cyanosis (HP:0032556) Decreased specific antibody response to protein-conjugated polysaccharide vaccine (HP:0410302) - Reduced circulating growth hormone concentration (HP:0034323) Increased circulating brain natriuretic peptide concentration (HP:0033534) - Peripapillary atrophy (HP:0500087) Fungal meningitis (HP:0032159) - Abnormal response to social norms (HP:5200123) - Elevated circulating soluble CD25 concentration (HP:0033833) Hooded eyelid (HP:0030820) - Obstipation (HP:0034782) - EEG with generalized slow activity grade 1 (HP:0011206) Social Anxiety (HP:6000029) + Hypoplastic iliac body (HP:0008824) Crossed fused renal ectopia (HP:0004736) - External tibial torsion (HP:0034373) - EEG with parietal focal spikes (HP:0012017) Bilateral perisylvian polymicrogyria (HP:0032407) - Angulated muscle fibers (HP:0034045) Impaired toe-walking ability (HP:0034052) - Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) Sensory behavioral abnormality (HP:5200046) Self-healing squamous epithelioma (HP:0034720) - Nasal flaring (HP:0030863) - Delayed ability to crawl (HP:0033128) - Forearm (HP:6000299) - Angle closure glaucoma (HP:0012109) + Ground-glass opacification (HP:0025179) Hypopigmented macule (HP:0020073) - Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) Sulfocysteinuria (HP:0032350) + Ileal ulcer (HP:0032024) Neonatal omphalitis (HP:0032435) - Anterior wedging of T12 (HP:0011940) + Steroetypic upper-extremity movements (HP:5200018) Myoclonic seizure (HP:0032794) Hoffmann sign (HP:0031993) Abnormal exteroceptive sensation (HP:0033747) - Decreased proportion of memory T cells (HP:0032183) Subglottic laryngitis (HP:0033000) Arm dystonia (HP:0031960) Focal impaired awareness motor seizure (HP:0032712) - Subpleural honeycombing (HP:0031631) - Polychromasia (HP:0034609) Pulmonary bulla (HP:0032446) - Drug allergy (HP:0410323) + Abnormal flash visual evoked potentials (HP:0007928) Tube feeding (HP:0033454) - Bacteremia (HP:0031864) - Knee contracture (HP:0034671) EEG with parietal sharp waves (HP:0011295) Eosinophilic dermal infiltration (HP:0032022) Hepatic hemophagocytosis (HP:0034797) Reduced circulating NT-proANP concentration (HP:6000693) Meat allergen allergy (HP:0410330) - Maintenance insomnia (HP:0031355) - Impaired executive functioning (HP:0033051) Decreased compound muscle action potential amplitude (HP:0033383) Keratinocyte vacuolization (HP:0034703) - Myopic astigmatism (HP:0500041) Caseous vernix-like desquamation (HP:0025724) - Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199) - Pneumocystis jirovecii pneumonia (HP:0020102) Onychotillomania (HP:0032509) - Interstitial emphysema (HP:0032965) - Conjunctival icterus (HP:0032106) Body ache (HP:0033047) Elevated urine 3-hydroxypropionic acid level (HP:0034661) Anti-muscle-specific tyrosine kinase antibody (HP:0030210) + Persistent asymmetrical tonic neck reflex (HP:0032549) + Elevated urinary coproporphyrin level (HP:6000536) + Disseminated nontuberculous mycobacterial infection (HP:0032283) + Livedo reticularis (HP:0033505) + Increased CSF glycine concentration (HP:0500230) + Unroofed coronary sinus (HP:0031297) + Sudden unexpected death in epilepsy (HP:0033258) + Increased circulating interleukin 1beta concentration (HP:6000374) + Hypergastrinemia (HP:0500167) + Anti-ganglioside antibody positivity (HP:0031810) + Male urethral meatus stenosis (HP:0032077) + Median pseudocleft lip (HP:0034185) + Decreased social interactions (HP:5200310) + Aortopulmonary collateral arteries (HP:0031834) + Hypoisoleucinemia (HP:0500144) + Moderate to late preterm birth (HP:0025664) + Delayed ability to roll over (HP:0032989) + Convulsive status epilepticus (HP:0032660) + Hypovalinemia (HP:0500132) + Alveolar septal thickening (HP:0033376) + Atrichia (HP:0500262) + Joint contracture (HP:0034392) + Synkinesis (HP:0034980) + Increased circulating IgG2 level (HP:0032299) + EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403) + Anti-integrin antibody positivity (HP:4000025) + Decreased body fat percentage (HP:0041079) + Bone spicule pigmentation of the retina (HP:0007737) + 2-hydroxyglutarate aciduria (HP:0032278) + EEG with focal sharp waves (HP:0011196) + Lupus nephritis (HP:0033726) + Increased circulating interleukin 18 concentration (HP:0034447) + Abnormal circulating IgG level (HP:0410242) + Absent sebaceous glands (HP:0410400) + Traction bronchiectasis (HP:0032969) + Leg dystonia (HP:0031959) + Decreased urinary uromodulin level (HP:0034886) + Reduced cerebral white matter volume (HP:0034295) + Aplasia of the olfactory bulb (HP:0032466) + Action myoclonus (HP:0034360) + Upgaze palsy (HP:0025331) + Micrographia (HP:0031908) + Focal cortical dysplasia type III (HP:0032054) + Oral melanotic macule (HP:0032451) + Generalized-onset motor seizure (HP:0032677) + Anti-islet antigen-2 antibody positivity (HP:0034063) + Cytoplasmic antineutrophil antibody positivity (HP:0032230) + Elevated circulating S-sulfocysteine concentration (HP:0034745) + Focal cortical dysplasia (HP:0032046) + Anteverted ears (HP:0040080) + Prominent subcalcaneal fat pad (HP:0032276) + Thickening of the tubular basement membrane (HP:0020132) + Enlarged sylvian cistern (HP:0100952) + EEG with continuous slow activity (HP:0011204) + Small joint hypermobilty (HP:0430046) + Abnormal HDL cholesterol concentration (HP:0031888) + Delayed ability to walk (HP:0031936) + Elevated red cell adenosine deaminase activity (HP:0030270) + Retinopathy of prematurity (HP:0500049) + Focal cortical dysplasia type Ib (HP:0032049) + Gingival fragility (HP:0034518) + Scissor gait (HP:0012407) + Abnormal cranial nerve physiology (HP:0031910) + Impaired heel-walking ability (HP:6000490) + Social disinhibition (HP:5200029) + Insistence on sameness (HP:5200130) + Elevated urine fumaric acid level (HP:0034648) + Elevated circulating glutarylcarnitine concentration (HP:0033442) + Motor regression (HP:0033044) + Howell-Jolly bodies (HP:0032550) + Seafood allergy (HP:0410333) + Duodenal gastrinoma (HP:0034953) + Anti-U1 ribonucleoprotein antibody positivity (HP:0033028) + Cobblestone-like hyperkeratosis (HP:0031288) + Absent fetal nasal bone (HP:0025706) + Hypocystinemia (HP:0500152) + Giant neutrophil granules (HP:0032499) + Vertebral artery aneurysm (HP:0034179) + EEG with central sharp waves (HP:0011293) + Molluscum contagiosum (HP:0032163) + Left atrial fibrosis (HP:6000691) + Selective mutism (HP:5200001) + Increased iduronate sulfatase level (HP:0003538) + Aggression towards others (HP:5200125) + Squared iliac bones (HP:0003177) + Ultra-low vision with retained light perception (HP:0032286) + Bone marrow maturation arrest (HP:0033606) + Abnormal circulating IgM level (HP:0410243) + EEG with occipital focal spikes (HP:0012016) + Narrowing of medullary canal (HP:0032458) + Z-band streaming (HP:0020203) + Squamosal suture synostosis (HP:6000612) + Elevated urine 3-hydroxyglutaric level (HP:0034656) + Tented upper lip vermilion (HP:0010804) + Brain imaging abnormality (HP:0410263) + Anti-insulin antibody positivity (HP:0034062) + Pustular rash (HP:0033605) + Elevated circulating myoglobin concentration (HP:0033438) + Neutrophilic infiltration of the skin (HP:0031234) + Meconium stained amniotic fluid (HP:0012420) + Pinguecula (HP:0031830) + Elevated circulating D-dimer concentration (HP:0033106) + Phobia (HP:5200232) + Nut food product allergy (HP:0410331) + EEG with parietal sharp slow waves (HP:0011288) + Ankle contracture (HP:0034677) + Hot cross bun sign (HP:0041056) + Shoulder contracture (HP:0034665) + Paget disease of bone (HP:0034159) + Focal impaired awareness autonomic seizure (HP:0032755) + Percussion-induced rapid rolling muscle contractions (HP:0003760) + T-wave alternans (HP:0012266) + Limited ankle dorsiflexion (HP:0033526) + Elevated circulating aspartate aminotransferase concentration (HP:0031956) + Dependency on parenteral nutrition (HP:0033994) + Deep dermatophytosis (HP:0032515) + Myofiber disarray (HP:0031318) + Hand paresthesia (HP:0033660) + Chiari type II malformation (HP:0025660) + EEG with central focal spikes (HP:0012014) + Abnormal facility in opposing the shoulders (HP:0005259) + Anti-platelet antigen antibody positivity (HP:4000170) + Elevated gamma-glutamyltransferase level (HP:0030948) + Elevated stool chloride content (HP:0034470) + Fiber type grouping (HP:0033685) + Abnormal reflex (HP:0031826) + Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752) + Hippocampal sclerosis (HP:0033715) + Ileitis (HP:0032564) + Tonic seizure (HP:0032792) + Nontuberculous mycobacterial pulmonary infection (HP:0032261) + Eosinophilic infiltration of the esophagus (HP:0410151) + Abnormal LDL cholesterol concentration (HP:0031886) + Wide nasal ridge (HP:0012811) + Elevated urinary L-glycerate level (HP:6000670) + Elevated fecal pH (HP:0032489) + Decreased proportion of gamma-delta T cells (HP:0500271) + Irregularly shaped sperm tail (HP:0033393) + Weakness of facial musculature (HP:0030319) + Sleep-wake inversion (HP:0031849) + Elevated lactate:pyruvate ratio (HP:0032653) + Skewfoot (HP:0032649) + Abnormal sperm head morphology (HP:0012865) + Eosinophilic pneumonia (HP:0032071) + Iliac artery aneurysm (HP:4000067) + Platelet anisocytosis (HP:0032438) + Anti-type VII collagen antibody (HP:4000031) + Empty sella turcica (HP:6000483) + Spherophakia (HP:0034375) + Valvular pulmonary stenosis (HP:0034350) + Renal interstitial foam cells (HP:0032582) + Premature sagging cheeks (HP:0034273) + Hypoplastic optic chiasm (HP:0034311) + Positive Mycobacterium avium sputum culture (HP:0430108) + Increased circulating troponin T concentration (HP:0410174) + Elevated haptoglobin level (HP:0020180) + Limited shoulder flexion (HP:0033482) + Generalized convulsive status epilepticus (HP:0032661) + Increased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500265) + Starry sky appearance on hepatic sonography (HP:0031145) + Decreased specific antibody response to polysaccharide vaccine (HP:0410299) + Trident acetabulum (HP:0034374) + Shark teeth (HP:4000168) + Hepatic sinusoidal dilatation (HP:0035006) + Aplasia of the olfactory tract (HP:0020128) + EEG with frontal sharp waves (HP:0011294) + Polyminimyoclonus (HP:0031986) + Abnormal hair whorl (HP:0010721) + Abnormally low T cell receptor excision circle level (HP:0031545) + Reduced haptoglobin level (HP:0020181) + Ultra-low vision with retained light projection (HP:0032285) + Froment sign (HP:0032121) + Flared femoral metaphysis (HP:0002834) + Elevated brain glycine level by MRS (HP:0034893) + Thick oral frenulum (HP:0034414) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) + Abnormality of pulmonary circulation (HP:0030875) + EEG with temporal focal spikes (HP:0012018) + Elevated circulating alanine aminotransferase concentration (HP:0031964) + EEG with occipital sharp waves (HP:0011292) + Chronic cough (HP:0034315) + Bilobed right lung (HP:0033183) + EEG with temporal sharp waves (HP:0011296) + Butterfly vertebral arch (HP:0004617) + Presyncope (HP:0031972) + EEG with occipital slowing (HP:0011210) + Heterotropia (HP:0032012) + Internal notch of the femoral head (HP:0031027) + Reduced circulating growth hormone concentration (HP:0034323) + Peripapillary atrophy (HP:0500087) + Renal interstitial fibrosis (HP:0032948) + Abnormal response to social norms (HP:5200123) + Elevated circulating soluble CD25 concentration (HP:0033833) + Obstipation (HP:0034782) + EEG with generalized slow activity grade 1 (HP:0011206) + Hippocampal atrophy (HP:0410170) + External tibial torsion (HP:0034373) + EEG with parietal focal spikes (HP:0012017) + Jaw hyperreflexia (HP:0033683) + Angulated muscle fibers (HP:0034045) + Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) + Nasal flaring (HP:0030863) + Delayed ability to crawl (HP:0033128) + Forearm (HP:6000299) + Angle closure glaucoma (HP:0012109) + Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) + Anterior wedging of T12 (HP:0011940) + Decreased proportion of memory T cells (HP:0032183) + Subpleural honeycombing (HP:0031631) + Polychromasia (HP:0034609) + Drug allergy (HP:0410323) + Bacteremia (HP:0031864) + Coiled sperm flagella (HP:0032560) + Labial melanotic macule (HP:0032454) + Knee contracture (HP:0034671) + Increased urine urobilinogen (HP:0031890) + Maintenance insomnia (HP:0031355) + Impaired executive functioning (HP:0033051) + Myopic astigmatism (HP:0500041) + Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199) + Pneumocystis jirovecii pneumonia (HP:0020102) + Interstitial emphysema (HP:0032965) + Conjunctival icterus (HP:0032106) Pituitary macroadenoma (HP:0025693) diff --git a/missing_translations/german.txt b/missing_translations/german.txt index a38d73d..413eea3 100644 --- a/missing_translations/german.txt +++ b/missing_translations/german.txt @@ -1,96 +1,80 @@ - Persistent asymmetrical tonic neck reflex (HP:0032549) - Laryngotracheal stenosis (HP:0004894) + Mesoaxial foot polydactyly (HP:0010112) + Increased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410395) + Pear-shaped nose (HP:0000447) Alobar holoprosencephaly (HP:0006988) - Perianal abscess (HP:0009789) Oral bleeding (HP:0040184) Colonic diverticula (HP:0002253) Pancreatic atrophy (HP:6000156) Eye of the tiger anomaly of globus pallidus (HP:0002454) Sparse lower eyelashes (HP:0007776) Hyperreflexia in upper limbs (HP:0007350) + IgA deposition in the glomerulus (HP:0000794) Paroxysmal atrial fibrillation (HP:0004757) Generalized hyperkeratosis (HP:0005595) Alzheimer disease (HP:0002511) + Myelokathexis (HP:0031160) Ebstein anomaly of the tricuspid valve (HP:0010316) - Enamel hypomineralization (HP:0006285) - Slow-growing hair (HP:0002217) + Coronary artery fistula (HP:0011641) Reduced galactocerebrosidase activity (HP:0034322) - Progressive visual field defects (HP:0007987) - Atrichia (HP:0500262) + Decreased proportion of naive CD8 T cells (HP:0410377) Chaddock reflex (HP:0010875) Oligomenorrhea (HP:0000876) - Increased circulating IgG2 level (HP:0032299) - Decreased body fat percentage (HP:0041079) - Muscle fiber inclusion bodies (HP:0100299) + Multiple joint dislocation (HP:0012095) + Elfin facies (HP:0004428) Orofacial dyskinesia (HP:0002310) - Decreased circulating IgG2 level (HP:0008348) + Hip joint hypermobility (HP:0045087) Narrow foot (HP:0001786) Low-set, posteriorly rotated ears (HP:0000368) - Foam cells (HP:0003651) - Spontaneous, recurrent epistaxis (HP:0004406) - Corneal dystrophy (HP:0001131) - Cigarette-paper scars (HP:0001073) - Traction bronchiectasis (HP:0032969) - Self-mutilation of tongue and lips due to involuntary movements (HP:0008767) - Temporomandibular joint ankylosis (HP:0012478) + Prominence of the zygomatic bone (HP:0012370) + Recurrent gastroenteritis (HP:0031123) Decreased distal sensory nerve action potential (HP:0007230) - Narrow palm (HP:0004283) Short proximal phalanx of hallux (HP:0010107) - Abdominal situs ambiguus (HP:0031565) - Prolonged bleeding after dental extraction (HP:0006298) + Combined immunodeficiency (HP:0005387) + Slowed horizontal saccades (HP:0007885) Annular cutaneous lesion (HP:0025528) Dyschromatopsia (HP:0007641) Reduced progressive sperm motility (HP:0034011) - Generalized-onset motor seizure (HP:0032677) - Anti-islet antigen-2 antibody positivity (HP:0034063) Dextrotransposition of the great arteries (HP:0031348) - T2 hypointense basal ganglia (HP:0012753) - Bilateral radial aplasia (HP:0004977) + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208) + Recurrent gingivitis (HP:0034284) Medullary nephrocalcinosis (HP:0012408) Temporal optic disc pallor (HP:0012511) - Laterally extended eyebrow (HP:0011230) - Neuroblastoma (HP:0003006) + Chronic respiratory acidosis (HP:0012466) Reduced natural killer cell activity (HP:0012178) Decreased corneal thickness (HP:0100689) + Anti-smooth muscle antibody positivity (HP:0003262) Radioulnar subluxation (HP:6000506) - Labial hypoplasia (HP:0000066) Neurofibrillary tangles (HP:0002185) - Pursed lips (HP:0000205) Overriding aorta (HP:0002623) - Hyperisoleucinemia (HP:0010913) 2:1 atrioventricular block (HP:0034305) - Villous atrophy (HP:0011473) Abnormal circulating luteinizing hormone concentration (HP:0030345) Elevated urinary creatine level (HP:0034598) Hypermetric saccades (HP:0007338) Akinesia (HP:0002304) - Dysostosis multiplex (HP:0000943) - Hoarse voice (HP:0001609) - Pierre-Robin sequence (HP:0000201) Effort-induced polymorphic ventricular tachycardia (HP:0004758) - Preauricular hair displacement (HP:0009554) + Abnormal prothrombin time (HP:0032199) Epidermal acanthosis (HP:0025092) Weakness of orbicularis oculi muscle (HP:0012507) - Peripheral pulmonary artery stenosis (HP:0004969) - Degenerative vitreoretinopathy (HP:0007964) - Duplicated collecting system (HP:0000081) + Polyarticular arthropathy (HP:0005195) + Delayed ability to walk with support (HP:0033257) + Anarthria (HP:0002425) + Hypothermia (HP:0002045) Retinal hamartoma (HP:0009594) - Scissor gait (HP:0012407) + Renal tubular acidosis (HP:0001947) + Thickened mitral valve cusp (HP:6000342) Renal duplication (HP:0000075) Thickened skin (HP:0001072) - Anomic aphasia (HP:0030784) - Sensory neuropathy (HP:0000763) - Uterus didelphys (HP:0003762) + Mesoaxial hand polydactyly (HP:0006159) + Carpal bone hypoplasia (HP:0001498) + Pleural empyema (HP:0011919) Chronic active hepatitis (HP:0200120) - Impaired heel-walking ability (HP:6000490) - Increased circulating prolactin concentration (HP:0000870) - Osteoporosis of vertebrae (HP:0005625) - Internal carotid artery hypoplasia (HP:0005290) + Spastic paraparesis (HP:0002313) + Prominent calcaneus (HP:0012428) + Milia (HP:0001056) Ectopic testis (HP:6000460) Lumbar hypolordosis (HP:0034770) Dermal atrophy (HP:0004334) Hemophagocytosis (HP:0012156) - Cleft ala nasi (HP:0003191) Photopsia (HP:0030786) Inability to walk by childhood/adolescence (HP:0006915) Increased fecal calprotectin level (HP:0034056) @@ -98,185 +82,171 @@ Lobulated tongue (HP:0000180) Decreased circulating thyroglobulin concentration (HP:6000244) Blepharochalasis (HP:0010749) - Reduced circulating prolactin concentration (HP:0008202) + Antineutrophil antibody positivity (HP:0003453) Hypometric upward saccades (HP:0031833) - Rectocele (HP:0100822) - Duodenal gastrinoma (HP:0034953) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) + Generalized aminoaciduria (HP:0002909) + Decreased circulating hepcidin concentration (HP:0031876) Short 2nd finger (HP:0009536) + Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199) Chronotropic incompetence (HP:0033992) - Lambdoidal craniosynostosis (HP:0004443) Histoplasmosis (HP:0032256) Total anomalous pulmonary venous return (HP:0005160) - Broad distal phalanx of finger (HP:0009836) - Delayed somatosensory central conduction time (HP:0100291) - Decreased transferrin saturation (HP:0012464) Recurrent aphthous stomatitis (HP:0011107) Narrow uvula (HP:0010811) Lewy bodies (HP:0100315) - Cobblestone-like hyperkeratosis (HP:0031288) - Giant neutrophil granules (HP:0032499) + Progressive (HP:0003676) + Polyarticular arthritis (HP:0005764) + Writer's cramp (HP:0002356) + Globus pallidus calcification (HP:0031627) + Acute kidney injury (HP:0001919) Recurrent hypoglycemia (HP:0001988) - Acral ulceration (HP:0006121) Hypergranulosis (HP:0025114) - Nonprogressive encephalopathy (HP:0007030) + C1-C2 subluxation (HP:0003320) Visual loss (HP:0000572) - Squared iliac bones (HP:0003177) - Bone marrow maturation arrest (HP:0033606) - Oligozoospermia (HP:0000798) - Z-band streaming (HP:0020203) + Central core regions in muscle fibers (HP:0030230) Finger hyperphalangy (HP:0030367) Weakness of the intrinsic hand muscles (HP:0009005) - Squamosal suture synostosis (HP:6000612) - Urinary urgency (HP:0000012) + Testicular atrophy (HP:0000029) + Anti-thyroglobulin antibody positivity (HP:0032069) + Abnormal circulating aldosterone (HP:0040085) + Right ventricular failure (HP:0001708) Aganglionic megacolon (HP:0002251) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) - Anti-insulin antibody positivity (HP:0034062) Recurrent sinusitis (HP:0011108) - Neurofibrosarcoma (HP:0100697) + Large joint hypermobilty (HP:0430047) + Globozoospermia (HP:0012205) Dorsocervical fat pad (HP:0025383) Generalized morning stiffness (HP:0005197) - Lacrimal duct stenosis (HP:0007678) + Aborted sudden cardiac death (HP:0031628) Decreased adiponectin level (HP:0030685) - Proboscis (HP:0012806) - Hot cross bun sign (HP:0041056) Prominent nasolabial fold (HP:0005272) Premature arteriosclerosis (HP:0005177) + Radial deviation of the hand (HP:0009486) Decreased cirrculating antimullerian hormone circulation (HP:0031103) - Hypoplastic nipples (HP:0002557) - Broad lateral eyebrow (HP:0007933) - Paget disease of bone (HP:0034159) - Weakness of long finger extensor muscles (HP:0009077) - Optic nerve glioma (HP:0009734) - Cardiac rhabdomyoma (HP:0009729) + Elevated transferrin saturation (HP:0012463) Type II pneumocyte hyperplasia (HP:0033328) - T-wave alternans (HP:0012266) + Venous insufficiency (HP:0005293) 4-5 toe syndactyly (HP:0004692) + Abnormal saccadic eye movements (HP:0000570) Normal pressure hydrocephalus (HP:0002343) Supranuclear ophthalmoplegia (HP:0000623) - Deep dermatophytosis (HP:0032515) - Prominent nipples (HP:0004405) - Hand paresthesia (HP:0033660) + Axillary lymphadenopathy (HP:0034752) Rectovaginal fistula (HP:0000143) Scimitar anomaly (HP:0011626) + Thickened glomerular basement membrane (HP:0004722) Generalized hypopigmentation (HP:0007513) Recurrent abscess formation (HP:0002722) Elevated circulating follicle stimulating hormone level (HP:0008232) - Prominent tragus (HP:0011271) - Discordant atrioventricular connection (HP:0011553) - Recurrent mycobacterial infections (HP:0011274) Posterolateral diaphragmatic hernia (HP:0025193) - Gingivitis (HP:0000230) + Reduced von Willebrand factor activity (HP:0008330) Abnormal thumb morphology (HP:0001172) - Impairment of activities of daily living (HP:0031058) + Medullary thyroid carcinoma (HP:0002865) Posterior helix pit (HP:0008523) Male infertility (HP:0003251) Polyembolokoilamania (HP:0032508) - Renal angiomyolipoma (HP:0006772) - Optic disc hypoplasia (HP:0007766) - Fiber type grouping (HP:0033685) + Genital warts (HP:0032301) Hyperhomocystinemia (HP:0002160) Frequent Giardia lamblia infestation (HP:0005215) Sleep onset insomnia (HP:0031354) - Hippocampal sclerosis (HP:0033715) Akathisia (HP:0031943) - Gastric diverticulum (HP:0100808) - Thin ear helix (HP:0009905) - Temporal cortical atrophy (HP:0007112) Cardiogenic shock (HP:0030149) Ectropion of lower eyelids (HP:0007651) - Caudate atrophy (HP:0002340) - Elevated urinary L-glycerate level (HP:6000670) - Cortical cataract (HP:0100019) - Hypoplasia of the bladder (HP:0005343) - Duodenal stenosis (HP:0100867) - Cone/cone-rod dystrophy (HP:0000548) + Elevated circulating desmosterol concentration (HP:0034937) + Neurofibroma (HP:0001067) + Decreased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410389) + Abnormality of the supraorbital ridges (HP:0100538) + Gaze-evoked horizontal nystagmus (HP:0007979) + Ocular hypertension (HP:0007906) + Cytomegalovirus colitis (HP:0033431) + Orange urine (HP:0032002) + Amelia involving the upper limbs (HP:0009812) Overfriendliness (HP:0100025) - Small intestinal perforation (HP:0031370) - Generalized hypoplasia of dental enamel (HP:0006282) - Myelomeningocele (HP:0002475) - Absent nipple (HP:0002561) - Intestinal obstruction (HP:0005214) + Pilocytic astrocytoma (HP:0033680) + Focal impaired awareness tonic seizure (HP:0032724) + Broad 2nd toe (HP:0100040) + Decreased CSF glutamine concentration (HP:0500198) Iron accumulation in brain (HP:0012675) - Hypernatremic dehydration (HP:0004906) - Abnormal circulating follicle-stimulating hormone concentration (HP:0030346) Small earlobe (HP:0000385) Distal ulnar hypoplasia (HP:0005033) - Empty sella turcica (HP:6000483) - Impaired vibration sensation in the lower limbs (HP:0002166) + Hypoglutaminemia (HP:0500147) + Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979) Parkinsonism with favorable response to dopaminergic medication (HP:0002548) + Abnormal platelet count (HP:0011873) Hyperactive Achilles reflex (HP:0033206) Bradyopsia (HP:0030511) Decreased proportion of CD4-positive, alpha-beta memory T cells (HP:0410386) Low cholesterol esterification rate (HP:0003349) Hand muscle weakness (HP:0030237) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) + Agenesis of maxillary lateral incisor (HP:0000690) Almond-shaped palpebral fissure (HP:0007874) - Valvular pulmonary stenosis (HP:0034350) + Anasarca (HP:0012050) Abnormal circulating iron concentration (HP:0040130) - Pectus excavatum of inferior sternum (HP:0000915) - Lafora bodies (HP:0100318) - Abnormal mitral valve morphology (HP:0001633) - Branchial sinus (HP:0100272) + Muscle fiber splitting (HP:0003555) + Renal sodium wasting (HP:0012606) + Increased hepatic glycogen content (HP:0006568) Anterior pituitary hypoplasia (HP:0010627) Absent tibia (HP:0009556) Deep plantar creases (HP:0001869) Anti-thyroid antibody positivity (HP:0430050) Posterior subcapsular cataract (HP:0007787) - Knee clonus (HP:0011449) - Finger syndactyly (HP:0006101) Delayed epiphyseal ossification (HP:0002663) Nevus flammeus of the forehead (HP:0007413) + Microlissencephaly (HP:0045028) + Embryonal rhabdomyosarcoma (HP:0006743) Hyposmia (HP:0004409) - Trident acetabulum (HP:0034374) - Malar rash (HP:0025300) + Pulmonary nodule (HP:0033608) + Papule (HP:0200034) + Increased proportion of plasmablasts (HP:0032128) Renal corticomedullary cysts (HP:0000108) Juvenile myelomonocytic leukemia (HP:0012209) Livedo racemosa (HP:0033260) - Aplasia of the olfactory tract (HP:0020128) + Pronoun reversal (HP:4000073) Distal sensory impairment (HP:0002936) Presenile cataracts (HP:0007819) Chronic tinea infection (HP:0032259) - Muscle fiber necrosis (HP:0003713) - Femoral hernia (HP:0100541) Abnormal isoelectric focusing of serum transferrin (HP:0003160) Acroosteolysis of distal phalanges (feet) (HP:0001870) - Abnormally low T cell receptor excision circle level (HP:0031545) + Abnormal eye contact (HP:0034435) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) - Aplasia of the premaxilla (HP:0010757) Reduced antral follicle count (HP:0033085) + Aplasia/Hypoplasia of the corpus callosum (HP:0007370) Macular dystrophy (HP:0007754) + Cerebellar calcifications (HP:0007352) Beevor's sign (HP:0030664) + Aniridia (HP:0000526) + Glomerular sclerosis (HP:0000096) Shortened QT interval (HP:0012232) - Meningioma (HP:0002858) Meckel diverticulum (HP:0002245) Female infertility (HP:0008222) - Camptodactyly of toe (HP:0001836) - Decreased facial expression (HP:0004673) - Partial albinism (HP:0007443) + Upper limb undergrowth (HP:0009824) + Impaired renal uric acid clearance (HP:0004732) Bursitis (HP:0025232) + Abnormality of circulating fibrinogen (HP:0011898) Ventral hernia (HP:0002933) Lower eyelid coloboma (HP:0000652) Fractured elbow (HP:0041219) - Herniation of intervertebral nuclei (HP:0008441) 3-Methylglutaric aciduria (HP:0003344) Absent lower eyelashes (HP:0007646) - Hyperleucinemia (HP:0010911) Impaired tandem gait (HP:0031629) + Tall chin (HP:0400000) + Abnormality of the philtrum (HP:0000288) + Schistocytosis (HP:0001981) Metaphyseal cupping (HP:0003021) Distal joint hypermobility (HP:0020152) - Difficulty adjusting to changes in luminance (HP:0030512) - Ecchymosis (HP:0031364) - Butterfly vertebral arch (HP:0004617) - Presyncope (HP:0031972) - Red hair (HP:0002297) - Gastrointestinal atresia (HP:0002589) + Subcortical white matter calcifications (HP:0007346) + Yellow-brown discoloration of the teeth (HP:0006286) Decreased circulating total IgG (HP:0032132) Decreased specific antibody response to protein-conjugated polysaccharide vaccine (HP:0410302) + Mediastinal lymphadenopathy (HP:0100721) Fungal meningitis (HP:0032159) Generalized osteoporosis (HP:0040160) - Elevated circulating soluble CD25 concentration (HP:0033833) Abnormal QT interval (HP:0031547) Decreased proportion of memory B cells (HP:0030374) - Stage 1 chronic kidney disease (HP:0012623) + Hypoplastic iliac body (HP:0008824) + Glioma (HP:0009733) Orthokeratosis (HP:0040162) Hypocalcemic tetany (HP:0003472) Renal phosphate wasting (HP:0000117) @@ -284,44 +254,336 @@ Bilateral perisylvian polymicrogyria (HP:0032407) Subglottic stenosis (HP:0001607) Reticulated skin pigmentation (HP:0007427) - Angulated muscle fibers (HP:0034045) + Hamartoma of tongue (HP:0011802) Impaired toe-walking ability (HP:0034052) - Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) T-wave inversion (HP:0010872) - Angle closure glaucoma (HP:0012109) + Ankle swelling (HP:0001785) + Ground-glass opacification (HP:0025179) Optic disc coloboma (HP:0000588) - Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) + Ileal ulcer (HP:0032024) Shoulder girdle muscle weakness (HP:0003547) Cervical lymphadenopathy (HP:0025289) Short ribs (HP:0000773) - Mitral atresia (HP:0011560) - Keratoconjunctivitis (HP:0001096) - C2-C3 subluxation (HP:0008456) + Abnormality of the mitochondrion (HP:0012103) + Steroetypic upper-extremity movements (HP:5200018) Abnormal exteroceptive sensation (HP:0033747) Difficulty standing (HP:0003698) Axillary freckling (HP:0000997) - Ketoacidosis (HP:0001993) + Abnormality of the cardiovascular system (HP:0001626) Pulmonary bulla (HP:0032446) + Abnormal flash visual evoked potentials (HP:0007928) Recurrent tonsillitis (HP:0011110) Menorrhagia (HP:0000132) - Abnormally low-pitched voice (HP:0010300) - Bacteremia (HP:0031864) - Central scotoma (HP:0000603) + Stage 4 chronic kidney disease (HP:0012626) + Tiger tail banding (HP:0045055) Monotonic speech (HP:0031435) Xanthomatosis (HP:0000991) Bilateral renal hypoplasia (HP:0012584) T-cell lymphoma (HP:0012190) Short eyelashes (HP:0010764) + Recurrent cutaneous abscess formation (HP:0100838) Narrow philtrum (HP:0011829) - Impaired executive functioning (HP:0033051) + Hypertensive crisis (HP:0100735) Gastrointestinal hemorrhage (HP:0002239) Keratinocyte vacuolization (HP:0034703) + Onychotillomania (HP:0032509) + Prolonged bleeding time (HP:0003010) + Hyperphosphaturia (HP:0003109) + Body ache (HP:0033047) + Persistent asymmetrical tonic neck reflex (HP:0032549) + Elevated urinary coproporphyrin level (HP:6000536) + Laryngotracheal stenosis (HP:0004894) + Elevated circulating luteinizing hormone level (HP:0011969) + Disseminated nontuberculous mycobacterial infection (HP:0032283) + Bilateral facial palsy (HP:0430025) + Unroofed coronary sinus (HP:0031297) + Perianal abscess (HP:0009789) + Cleft earlobe (HP:0011265) + Increased circulating interleukin 1beta concentration (HP:6000374) + Peroneal muscle atrophy (HP:0009049) + Carpal synostosis (HP:0009702) + Reduced renal corticomedullary differentiation (HP:0005565) + Enamel hypomineralization (HP:0006285) + Slow-growing hair (HP:0002217) + Progressive visual field defects (HP:0007987) + Alveolar septal thickening (HP:0033376) + Atrichia (HP:0500262) + Increased circulating IgG2 level (HP:0032299) + Anti-integrin antibody positivity (HP:4000025) + Decreased body fat percentage (HP:0041079) + Muscle fiber inclusion bodies (HP:0100299) + Decreased circulating IgG2 level (HP:0008348) + Increased circulating interleukin 18 concentration (HP:0034447) + Foam cells (HP:0003651) + Spontaneous, recurrent epistaxis (HP:0004406) + Corneal dystrophy (HP:0001131) + Cigarette-paper scars (HP:0001073) + Traction bronchiectasis (HP:0032969) + Peritonitis (HP:0002586) + Self-mutilation of tongue and lips due to involuntary movements (HP:0008767) + Temporomandibular joint ankylosis (HP:0012478) + Congenital horizontal nystagmus (HP:0007859) + Decreased urinary uromodulin level (HP:0034886) + Macroorchidism (HP:0000053) + Narrow palm (HP:0004283) + Abdominal situs ambiguus (HP:0031565) + Hypocalciuria (HP:0003127) + Prolonged bleeding after dental extraction (HP:0006298) + White scaling skin (HP:0040190) + Pulmonary capillary hemangiomatosis (HP:0005954) + Generalized-onset motor seizure (HP:0032677) + Anti-islet antigen-2 antibody positivity (HP:0034063) + Cytoplasmic antineutrophil antibody positivity (HP:0032230) + T2 hypointense basal ganglia (HP:0012753) + Bilateral radial aplasia (HP:0004977) + Increased circulating interferon-gamma concentration (HP:0030356) + Laterally extended eyebrow (HP:0011230) + Neuroblastoma (HP:0003006) + Thickening of the tubular basement membrane (HP:0020132) + Labial hypoplasia (HP:0000066) + Pursed lips (HP:0000205) + Hyperisoleucinemia (HP:0010913) + Villous atrophy (HP:0011473) + Decreased glomerular filtration rate (HP:0012213) + Dysostosis multiplex (HP:0000943) + Hoarse voice (HP:0001609) + Pierre-Robin sequence (HP:0000201) + Stage 2 chronic kidney disease (HP:0012624) + Preauricular hair displacement (HP:0009554) + Abnormal blood sodium concentration (HP:0010931) + Increased circulating iron concentration (HP:0003452) + Peripheral pulmonary artery stenosis (HP:0004969) + Degenerative vitreoretinopathy (HP:0007964) + Duplicated collecting system (HP:0000081) + Myokymia (HP:0002411) + Autoimmune antibody positivity (HP:0030057) + Rheumatoid factor positive (HP:0002923) + Scissor gait (HP:0012407) + Prolonged prothrombin time (HP:0008151) + Anomic aphasia (HP:0030784) + Sensory neuropathy (HP:0000763) + Uterus didelphys (HP:0003762) + Impaired heel-walking ability (HP:6000490) + Increased circulating prolactin concentration (HP:0000870) + Osteoporosis of vertebrae (HP:0005625) + Renal artery stenosis (HP:0001920) + Internal carotid artery hypoplasia (HP:0005290) + Reduced sperm motility (HP:0012207) + Cleft ala nasi (HP:0003191) + Dysplasia of the femoral head (HP:0010575) + Increased blood urea nitrogen (HP:0003138) + Reduced circulating prolactin concentration (HP:0008202) + Rectocele (HP:0100822) + Abnormal factor VIII activity (HP:0030976) + Duodenal gastrinoma (HP:0034953) + Abnormal joint morphology (HP:0001367) + Stage 3 chronic kidney disease (HP:0012625) + Lambdoidal craniosynostosis (HP:0004443) + Hypoplasia of the iris (HP:0007676) + Broad distal phalanx of finger (HP:0009836) + Anti-U1 ribonucleoprotein antibody positivity (HP:0033028) + Delayed somatosensory central conduction time (HP:0100291) + Spinal neurofibroma (HP:0009735) + Decreased transferrin saturation (HP:0012464) + Cobblestone-like hyperkeratosis (HP:0031288) + Increased circulating cortisol level (HP:0003118) + Sclerosing cholangitis (HP:0030991) + Giant neutrophil granules (HP:0032499) + Increased iduronate sulfatase level (HP:0003538) + Acral ulceration (HP:0006121) + Nonprogressive encephalopathy (HP:0007030) + Squared iliac bones (HP:0003177) + Cortical thickening of long bone diaphyses (HP:0005791) + Oligozoospermia (HP:0000798) + Bone marrow maturation arrest (HP:0033606) + Narrowing of medullary canal (HP:0032458) + Z-band streaming (HP:0020203) + Squamosal suture synostosis (HP:6000612) + Lung abscess (HP:0025044) + Liver abscess (HP:0100523) + Ureteropelvic junction obstruction (HP:0000074) + Urinary urgency (HP:0000012) + Anti-insulin antibody positivity (HP:0034062) + Pustular rash (HP:0033605) + Elevated circulating myoglobin concentration (HP:0033438) + Neutrophilic infiltration of the skin (HP:0031234) + Elevated circulating D-dimer concentration (HP:0033106) + Lacrimal duct stenosis (HP:0007678) + Hyperechogenic kidneys (HP:0004719) + Proboscis (HP:0012806) + Hot cross bun sign (HP:0041056) + Dysplastic erythropoesis (HP:0012134) + Shoulder contracture (HP:0034665) + Grasp reflex (HP:0030903) + Angular cheilitis (HP:0030318) + Hypoplastic nipples (HP:0002557) + Aortic arch aneurysm (HP:0005113) + Abnormal macular morphology (HP:0001103) + Broad lateral eyebrow (HP:0007933) + Paget disease of bone (HP:0034159) + Weakness of long finger extensor muscles (HP:0009077) + Optic nerve glioma (HP:0009734) + Cardiac rhabdomyoma (HP:0009729) + T-wave alternans (HP:0012266) + Colitis (HP:0002583) + Long-tract signs (HP:0002423) + Reduced muscle collagen VI (HP:0030095) + Deep dermatophytosis (HP:0032515) + Prominent nipples (HP:0004405) + Hand paresthesia (HP:0033660) + Abnormal circulating acylcarnitine concentration (HP:0012071) + Panniculitis (HP:0012490) + Prominent tragus (HP:0011271) + Discordant atrioventricular connection (HP:0011553) + Recurrent mycobacterial infections (HP:0011274) + Hemangioma (HP:0001028) + Increased axial length of the globe (HP:0007800) + Abnormal blood chloride concentration (HP:0011422) + Micronodular cirrhosis (HP:0001413) + Gingivitis (HP:0000230) + Impairment of activities of daily living (HP:0031058) + Astrocytoma (HP:0009592) + Renal angiomyolipoma (HP:0006772) + Elevated stool chloride content (HP:0034470) + Abnormal visual fixation (HP:0025404) + Optic disc hypoplasia (HP:0007766) + Fiber type grouping (HP:0033685) + Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752) + Increased proportion of transitional B cells (HP:0030381) + Hippocampal sclerosis (HP:0033715) + Ileitis (HP:0032564) + Gastric diverticulum (HP:0100808) + Autoamputation of digits (HP:0007460) + Graves disease (HP:0100647) + Thin ear helix (HP:0009905) + Nontuberculous mycobacterial pulmonary infection (HP:0032261) + Temporal cortical atrophy (HP:0007112) + Caudate atrophy (HP:0002340) + Elevated urinary L-glycerate level (HP:6000670) + Elevated fecal pH (HP:0032489) + Cortical cataract (HP:0100019) + Irregularly shaped sperm tail (HP:0033393) + Hypoplasia of the bladder (HP:0005343) + Duodenal stenosis (HP:0100867) + Cone/cone-rod dystrophy (HP:0000548) + Elevated lactate:pyruvate ratio (HP:0032653) + Seborrheic dermatitis (HP:0001051) + Small intestinal perforation (HP:0031370) + Generalized hypoplasia of dental enamel (HP:0006282) + Abnormal sperm head morphology (HP:0012865) + Myelomeningocele (HP:0002475) + Inferior cerebellar vermis hypoplasia (HP:0007068) + Absent nipple (HP:0002561) + Intestinal obstruction (HP:0005214) + Hypernatremic dehydration (HP:0004906) + Abnormal circulating follicle-stimulating hormone concentration (HP:0030346) + Abnormal hepatic iron concentration (HP:0040134) + Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817) + Anti-type VII collagen antibody (HP:4000031) + Empty sella turcica (HP:6000483) + Impaired vibration sensation in the lower limbs (HP:0002166) + Lumbar hemivertebrae (HP:0008439) + Cerebellar glioma (HP:0010795) + Decreased serum estradiol (HP:0008214) + Valvular pulmonary stenosis (HP:0034350) + Miosis (HP:0000616) + Pectus excavatum of inferior sternum (HP:0000915) + Lafora bodies (HP:0100318) + Abnormal mitral valve morphology (HP:0001633) + Neuronal loss in the cerebral cortex (HP:0007190) + Delayed ability to stand (HP:0025335) + Palpebral thickening (HP:0030939) + Branchial sinus (HP:0100272) + Abnormal circulating renin (HP:0040084) + Positive Mycobacterium avium sputum culture (HP:0430108) + Knee clonus (HP:0011449) + Generalized convulsive status epilepticus (HP:0032661) + Increased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500265) + Imperforate hymen (HP:0030011) + Starry sky appearance on hepatic sonography (HP:0031145) + Finger syndactyly (HP:0006101) + Decreased specific antibody response to polysaccharide vaccine (HP:0410299) + Trident acetabulum (HP:0034374) + Malar rash (HP:0025300) + Parotitis (HP:0011850) + Reduced FEV1/FVC ratio (HP:0030877) + Aplasia of the olfactory tract (HP:0020128) + Renal tubular atrophy (HP:0000092) + Muscle fiber necrosis (HP:0003713) + Femoral hernia (HP:0100541) + Diffuse cerebellar atrophy (HP:0100275) + Tubulointerstitial nephritis (HP:0001970) + Abnormally low T cell receptor excision circle level (HP:0031545) + Aplasia/Hypoplasia of the cerebral white matter (HP:0012429) + Aplasia of the premaxilla (HP:0010757) + Partial absence of cerebellar vermis (HP:0002951) + Froment sign (HP:0032121) + Progressive external ophthalmoplegia (HP:0000590) + Meningioma (HP:0002858) + Deep dermal perivascular inflammatory infiltrate (HP:0031191) + Camptodactyly of toe (HP:0001836) + Decreased facial expression (HP:0004673) + Partial albinism (HP:0007443) + Thick oral frenulum (HP:0034414) + Aplasia cutis congenita of scalp (HP:0007385) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) + Orthostatic hypotension (HP:0001278) + Herniation of intervertebral nuclei (HP:0008441) + Hyperleucinemia (HP:0010911) + Breast carcinoma (HP:0003002) + Bilobed right lung (HP:0033183) + Difficulty adjusting to changes in luminance (HP:0030512) + Ecchymosis (HP:0031364) + Butterfly vertebral arch (HP:0004617) + Presyncope (HP:0031972) + Red hair (HP:0002297) + Gastrointestinal atresia (HP:0002589) + Heterotropia (HP:0032012) + Aplasia of the pectoralis major muscle (HP:0009751) + Protruding tongue (HP:0010808) + Progressive visual loss (HP:0000529) + Hypoinsulinemia (HP:0040216) + Renal interstitial fibrosis (HP:0032948) + Elevated circulating soluble CD25 concentration (HP:0033833) + Hippocampal atrophy (HP:0410170) + Stage 1 chronic kidney disease (HP:0012623) + Abnormality of peripheral nervous system electrophysiology (HP:0030177) + Anhidrosis (HP:0000970) + Jaw hyperreflexia (HP:0033683) + Angulated muscle fibers (HP:0034045) + Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) + Hyperparathyroidism (HP:0000843) + Angle closure glaucoma (HP:0012109) + Acute aspiration pneumonia (HP:0011952) + Open angle glaucoma (HP:0012108) + Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) + Mitral atresia (HP:0011560) + Keratoconjunctivitis (HP:0001096) + C2-C3 subluxation (HP:0008456) + Agenesis of the anterior commissure (HP:0030302) + Ketoacidosis (HP:0001993) + Elevated hepatic iron concentration (HP:0012465) + Cerebellar ataxia associated with quadrupedal gait (HP:0009878) + Dyscalculia (HP:0002442) + Abnormally low-pitched voice (HP:0010300) + Bacteremia (HP:0031864) + Parietal cortical atrophy (HP:0012104) + Central scotoma (HP:0000603) + Coiled sperm flagella (HP:0032560) + Abnormal carpal morphology (HP:0001191) + Discoid lupus rash (HP:0007417) + Scarring (HP:0100699) + Increased urine urobilinogen (HP:0031890) + Diffuse leukoencephalopathy (HP:0006994) + Impaired executive functioning (HP:0033051) Multiple mitochondrial DNA deletions (HP:0003689) + Abnormality of the glabella (HP:0002056) Recurrent patellar dislocation (HP:0005001) Cutaneous mastocytosis (HP:0200151) - Onychotillomania (HP:0032509) + Red urine (HP:0040318) + Inflammation of the large intestine (HP:0002037) + Rachitic rosary (HP:0000897) + Abnormality of ocular smooth pursuit (HP:0000617) Pulmonary lymphangiomyomatosis (HP:0012798) Interstitial emphysema (HP:0032965) - Prolonged bleeding time (HP:0003010) - Body ache (HP:0033047) Pituitary macroadenoma (HP:0025693) diff --git a/missing_translations/italian.txt b/missing_translations/italian.txt index a38d73d..413eea3 100644 --- a/missing_translations/italian.txt +++ b/missing_translations/italian.txt @@ -1,96 +1,80 @@ - Persistent asymmetrical tonic neck reflex (HP:0032549) - Laryngotracheal stenosis (HP:0004894) + Mesoaxial foot polydactyly (HP:0010112) + Increased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410395) + Pear-shaped nose (HP:0000447) Alobar holoprosencephaly (HP:0006988) - Perianal abscess (HP:0009789) Oral bleeding (HP:0040184) Colonic diverticula (HP:0002253) Pancreatic atrophy (HP:6000156) Eye of the tiger anomaly of globus pallidus (HP:0002454) Sparse lower eyelashes (HP:0007776) Hyperreflexia in upper limbs (HP:0007350) + IgA deposition in the glomerulus (HP:0000794) Paroxysmal atrial fibrillation (HP:0004757) Generalized hyperkeratosis (HP:0005595) Alzheimer disease (HP:0002511) + Myelokathexis (HP:0031160) Ebstein anomaly of the tricuspid valve (HP:0010316) - Enamel hypomineralization (HP:0006285) - Slow-growing hair (HP:0002217) + Coronary artery fistula (HP:0011641) Reduced galactocerebrosidase activity (HP:0034322) - Progressive visual field defects (HP:0007987) - Atrichia (HP:0500262) + Decreased proportion of naive CD8 T cells (HP:0410377) Chaddock reflex (HP:0010875) Oligomenorrhea (HP:0000876) - Increased circulating IgG2 level (HP:0032299) - Decreased body fat percentage (HP:0041079) - Muscle fiber inclusion bodies (HP:0100299) + Multiple joint dislocation (HP:0012095) + Elfin facies (HP:0004428) Orofacial dyskinesia (HP:0002310) - Decreased circulating IgG2 level (HP:0008348) + Hip joint hypermobility (HP:0045087) Narrow foot (HP:0001786) Low-set, posteriorly rotated ears (HP:0000368) - Foam cells (HP:0003651) - Spontaneous, recurrent epistaxis (HP:0004406) - Corneal dystrophy (HP:0001131) - Cigarette-paper scars (HP:0001073) - Traction bronchiectasis (HP:0032969) - Self-mutilation of tongue and lips due to involuntary movements (HP:0008767) - Temporomandibular joint ankylosis (HP:0012478) + Prominence of the zygomatic bone (HP:0012370) + Recurrent gastroenteritis (HP:0031123) Decreased distal sensory nerve action potential (HP:0007230) - Narrow palm (HP:0004283) Short proximal phalanx of hallux (HP:0010107) - Abdominal situs ambiguus (HP:0031565) - Prolonged bleeding after dental extraction (HP:0006298) + Combined immunodeficiency (HP:0005387) + Slowed horizontal saccades (HP:0007885) Annular cutaneous lesion (HP:0025528) Dyschromatopsia (HP:0007641) Reduced progressive sperm motility (HP:0034011) - Generalized-onset motor seizure (HP:0032677) - Anti-islet antigen-2 antibody positivity (HP:0034063) Dextrotransposition of the great arteries (HP:0031348) - T2 hypointense basal ganglia (HP:0012753) - Bilateral radial aplasia (HP:0004977) + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208) + Recurrent gingivitis (HP:0034284) Medullary nephrocalcinosis (HP:0012408) Temporal optic disc pallor (HP:0012511) - Laterally extended eyebrow (HP:0011230) - Neuroblastoma (HP:0003006) + Chronic respiratory acidosis (HP:0012466) Reduced natural killer cell activity (HP:0012178) Decreased corneal thickness (HP:0100689) + Anti-smooth muscle antibody positivity (HP:0003262) Radioulnar subluxation (HP:6000506) - Labial hypoplasia (HP:0000066) Neurofibrillary tangles (HP:0002185) - Pursed lips (HP:0000205) Overriding aorta (HP:0002623) - Hyperisoleucinemia (HP:0010913) 2:1 atrioventricular block (HP:0034305) - Villous atrophy (HP:0011473) Abnormal circulating luteinizing hormone concentration (HP:0030345) Elevated urinary creatine level (HP:0034598) Hypermetric saccades (HP:0007338) Akinesia (HP:0002304) - Dysostosis multiplex (HP:0000943) - Hoarse voice (HP:0001609) - Pierre-Robin sequence (HP:0000201) Effort-induced polymorphic ventricular tachycardia (HP:0004758) - Preauricular hair displacement (HP:0009554) + Abnormal prothrombin time (HP:0032199) Epidermal acanthosis (HP:0025092) Weakness of orbicularis oculi muscle (HP:0012507) - Peripheral pulmonary artery stenosis (HP:0004969) - Degenerative vitreoretinopathy (HP:0007964) - Duplicated collecting system (HP:0000081) + Polyarticular arthropathy (HP:0005195) + Delayed ability to walk with support (HP:0033257) + Anarthria (HP:0002425) + Hypothermia (HP:0002045) Retinal hamartoma (HP:0009594) - Scissor gait (HP:0012407) + Renal tubular acidosis (HP:0001947) + Thickened mitral valve cusp (HP:6000342) Renal duplication (HP:0000075) Thickened skin (HP:0001072) - Anomic aphasia (HP:0030784) - Sensory neuropathy (HP:0000763) - Uterus didelphys (HP:0003762) + Mesoaxial hand polydactyly (HP:0006159) + Carpal bone hypoplasia (HP:0001498) + Pleural empyema (HP:0011919) Chronic active hepatitis (HP:0200120) - Impaired heel-walking ability (HP:6000490) - Increased circulating prolactin concentration (HP:0000870) - Osteoporosis of vertebrae (HP:0005625) - Internal carotid artery hypoplasia (HP:0005290) + Spastic paraparesis (HP:0002313) + Prominent calcaneus (HP:0012428) + Milia (HP:0001056) Ectopic testis (HP:6000460) Lumbar hypolordosis (HP:0034770) Dermal atrophy (HP:0004334) Hemophagocytosis (HP:0012156) - Cleft ala nasi (HP:0003191) Photopsia (HP:0030786) Inability to walk by childhood/adolescence (HP:0006915) Increased fecal calprotectin level (HP:0034056) @@ -98,185 +82,171 @@ Lobulated tongue (HP:0000180) Decreased circulating thyroglobulin concentration (HP:6000244) Blepharochalasis (HP:0010749) - Reduced circulating prolactin concentration (HP:0008202) + Antineutrophil antibody positivity (HP:0003453) Hypometric upward saccades (HP:0031833) - Rectocele (HP:0100822) - Duodenal gastrinoma (HP:0034953) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) + Generalized aminoaciduria (HP:0002909) + Decreased circulating hepcidin concentration (HP:0031876) Short 2nd finger (HP:0009536) + Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199) Chronotropic incompetence (HP:0033992) - Lambdoidal craniosynostosis (HP:0004443) Histoplasmosis (HP:0032256) Total anomalous pulmonary venous return (HP:0005160) - Broad distal phalanx of finger (HP:0009836) - Delayed somatosensory central conduction time (HP:0100291) - Decreased transferrin saturation (HP:0012464) Recurrent aphthous stomatitis (HP:0011107) Narrow uvula (HP:0010811) Lewy bodies (HP:0100315) - Cobblestone-like hyperkeratosis (HP:0031288) - Giant neutrophil granules (HP:0032499) + Progressive (HP:0003676) + Polyarticular arthritis (HP:0005764) + Writer's cramp (HP:0002356) + Globus pallidus calcification (HP:0031627) + Acute kidney injury (HP:0001919) Recurrent hypoglycemia (HP:0001988) - Acral ulceration (HP:0006121) Hypergranulosis (HP:0025114) - Nonprogressive encephalopathy (HP:0007030) + C1-C2 subluxation (HP:0003320) Visual loss (HP:0000572) - Squared iliac bones (HP:0003177) - Bone marrow maturation arrest (HP:0033606) - Oligozoospermia (HP:0000798) - Z-band streaming (HP:0020203) + Central core regions in muscle fibers (HP:0030230) Finger hyperphalangy (HP:0030367) Weakness of the intrinsic hand muscles (HP:0009005) - Squamosal suture synostosis (HP:6000612) - Urinary urgency (HP:0000012) + Testicular atrophy (HP:0000029) + Anti-thyroglobulin antibody positivity (HP:0032069) + Abnormal circulating aldosterone (HP:0040085) + Right ventricular failure (HP:0001708) Aganglionic megacolon (HP:0002251) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) - Anti-insulin antibody positivity (HP:0034062) Recurrent sinusitis (HP:0011108) - Neurofibrosarcoma (HP:0100697) + Large joint hypermobilty (HP:0430047) + Globozoospermia (HP:0012205) Dorsocervical fat pad (HP:0025383) Generalized morning stiffness (HP:0005197) - Lacrimal duct stenosis (HP:0007678) + Aborted sudden cardiac death (HP:0031628) Decreased adiponectin level (HP:0030685) - Proboscis (HP:0012806) - Hot cross bun sign (HP:0041056) Prominent nasolabial fold (HP:0005272) Premature arteriosclerosis (HP:0005177) + Radial deviation of the hand (HP:0009486) Decreased cirrculating antimullerian hormone circulation (HP:0031103) - Hypoplastic nipples (HP:0002557) - Broad lateral eyebrow (HP:0007933) - Paget disease of bone (HP:0034159) - Weakness of long finger extensor muscles (HP:0009077) - Optic nerve glioma (HP:0009734) - Cardiac rhabdomyoma (HP:0009729) + Elevated transferrin saturation (HP:0012463) Type II pneumocyte hyperplasia (HP:0033328) - T-wave alternans (HP:0012266) + Venous insufficiency (HP:0005293) 4-5 toe syndactyly (HP:0004692) + Abnormal saccadic eye movements (HP:0000570) Normal pressure hydrocephalus (HP:0002343) Supranuclear ophthalmoplegia (HP:0000623) - Deep dermatophytosis (HP:0032515) - Prominent nipples (HP:0004405) - Hand paresthesia (HP:0033660) + Axillary lymphadenopathy (HP:0034752) Rectovaginal fistula (HP:0000143) Scimitar anomaly (HP:0011626) + Thickened glomerular basement membrane (HP:0004722) Generalized hypopigmentation (HP:0007513) Recurrent abscess formation (HP:0002722) Elevated circulating follicle stimulating hormone level (HP:0008232) - Prominent tragus (HP:0011271) - Discordant atrioventricular connection (HP:0011553) - Recurrent mycobacterial infections (HP:0011274) Posterolateral diaphragmatic hernia (HP:0025193) - Gingivitis (HP:0000230) + Reduced von Willebrand factor activity (HP:0008330) Abnormal thumb morphology (HP:0001172) - Impairment of activities of daily living (HP:0031058) + Medullary thyroid carcinoma (HP:0002865) Posterior helix pit (HP:0008523) Male infertility (HP:0003251) Polyembolokoilamania (HP:0032508) - Renal angiomyolipoma (HP:0006772) - Optic disc hypoplasia (HP:0007766) - Fiber type grouping (HP:0033685) + Genital warts (HP:0032301) Hyperhomocystinemia (HP:0002160) Frequent Giardia lamblia infestation (HP:0005215) Sleep onset insomnia (HP:0031354) - Hippocampal sclerosis (HP:0033715) Akathisia (HP:0031943) - Gastric diverticulum (HP:0100808) - Thin ear helix (HP:0009905) - Temporal cortical atrophy (HP:0007112) Cardiogenic shock (HP:0030149) Ectropion of lower eyelids (HP:0007651) - Caudate atrophy (HP:0002340) - Elevated urinary L-glycerate level (HP:6000670) - Cortical cataract (HP:0100019) - Hypoplasia of the bladder (HP:0005343) - Duodenal stenosis (HP:0100867) - Cone/cone-rod dystrophy (HP:0000548) + Elevated circulating desmosterol concentration (HP:0034937) + Neurofibroma (HP:0001067) + Decreased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410389) + Abnormality of the supraorbital ridges (HP:0100538) + Gaze-evoked horizontal nystagmus (HP:0007979) + Ocular hypertension (HP:0007906) + Cytomegalovirus colitis (HP:0033431) + Orange urine (HP:0032002) + Amelia involving the upper limbs (HP:0009812) Overfriendliness (HP:0100025) - Small intestinal perforation (HP:0031370) - Generalized hypoplasia of dental enamel (HP:0006282) - Myelomeningocele (HP:0002475) - Absent nipple (HP:0002561) - Intestinal obstruction (HP:0005214) + Pilocytic astrocytoma (HP:0033680) + Focal impaired awareness tonic seizure (HP:0032724) + Broad 2nd toe (HP:0100040) + Decreased CSF glutamine concentration (HP:0500198) Iron accumulation in brain (HP:0012675) - Hypernatremic dehydration (HP:0004906) - Abnormal circulating follicle-stimulating hormone concentration (HP:0030346) Small earlobe (HP:0000385) Distal ulnar hypoplasia (HP:0005033) - Empty sella turcica (HP:6000483) - Impaired vibration sensation in the lower limbs (HP:0002166) + Hypoglutaminemia (HP:0500147) + Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979) Parkinsonism with favorable response to dopaminergic medication (HP:0002548) + Abnormal platelet count (HP:0011873) Hyperactive Achilles reflex (HP:0033206) Bradyopsia (HP:0030511) Decreased proportion of CD4-positive, alpha-beta memory T cells (HP:0410386) Low cholesterol esterification rate (HP:0003349) Hand muscle weakness (HP:0030237) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) + Agenesis of maxillary lateral incisor (HP:0000690) Almond-shaped palpebral fissure (HP:0007874) - Valvular pulmonary stenosis (HP:0034350) + Anasarca (HP:0012050) Abnormal circulating iron concentration (HP:0040130) - Pectus excavatum of inferior sternum (HP:0000915) - Lafora bodies (HP:0100318) - Abnormal mitral valve morphology (HP:0001633) - Branchial sinus (HP:0100272) + Muscle fiber splitting (HP:0003555) + Renal sodium wasting (HP:0012606) + Increased hepatic glycogen content (HP:0006568) Anterior pituitary hypoplasia (HP:0010627) Absent tibia (HP:0009556) Deep plantar creases (HP:0001869) Anti-thyroid antibody positivity (HP:0430050) Posterior subcapsular cataract (HP:0007787) - Knee clonus (HP:0011449) - Finger syndactyly (HP:0006101) Delayed epiphyseal ossification (HP:0002663) Nevus flammeus of the forehead (HP:0007413) + Microlissencephaly (HP:0045028) + Embryonal rhabdomyosarcoma (HP:0006743) Hyposmia (HP:0004409) - Trident acetabulum (HP:0034374) - Malar rash (HP:0025300) + Pulmonary nodule (HP:0033608) + Papule (HP:0200034) + Increased proportion of plasmablasts (HP:0032128) Renal corticomedullary cysts (HP:0000108) Juvenile myelomonocytic leukemia (HP:0012209) Livedo racemosa (HP:0033260) - Aplasia of the olfactory tract (HP:0020128) + Pronoun reversal (HP:4000073) Distal sensory impairment (HP:0002936) Presenile cataracts (HP:0007819) Chronic tinea infection (HP:0032259) - Muscle fiber necrosis (HP:0003713) - Femoral hernia (HP:0100541) Abnormal isoelectric focusing of serum transferrin (HP:0003160) Acroosteolysis of distal phalanges (feet) (HP:0001870) - Abnormally low T cell receptor excision circle level (HP:0031545) + Abnormal eye contact (HP:0034435) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) - Aplasia of the premaxilla (HP:0010757) Reduced antral follicle count (HP:0033085) + Aplasia/Hypoplasia of the corpus callosum (HP:0007370) Macular dystrophy (HP:0007754) + Cerebellar calcifications (HP:0007352) Beevor's sign (HP:0030664) + Aniridia (HP:0000526) + Glomerular sclerosis (HP:0000096) Shortened QT interval (HP:0012232) - Meningioma (HP:0002858) Meckel diverticulum (HP:0002245) Female infertility (HP:0008222) - Camptodactyly of toe (HP:0001836) - Decreased facial expression (HP:0004673) - Partial albinism (HP:0007443) + Upper limb undergrowth (HP:0009824) + Impaired renal uric acid clearance (HP:0004732) Bursitis (HP:0025232) + Abnormality of circulating fibrinogen (HP:0011898) Ventral hernia (HP:0002933) Lower eyelid coloboma (HP:0000652) Fractured elbow (HP:0041219) - Herniation of intervertebral nuclei (HP:0008441) 3-Methylglutaric aciduria (HP:0003344) Absent lower eyelashes (HP:0007646) - Hyperleucinemia (HP:0010911) Impaired tandem gait (HP:0031629) + Tall chin (HP:0400000) + Abnormality of the philtrum (HP:0000288) + Schistocytosis (HP:0001981) Metaphyseal cupping (HP:0003021) Distal joint hypermobility (HP:0020152) - Difficulty adjusting to changes in luminance (HP:0030512) - Ecchymosis (HP:0031364) - Butterfly vertebral arch (HP:0004617) - Presyncope (HP:0031972) - Red hair (HP:0002297) - Gastrointestinal atresia (HP:0002589) + Subcortical white matter calcifications (HP:0007346) + Yellow-brown discoloration of the teeth (HP:0006286) Decreased circulating total IgG (HP:0032132) Decreased specific antibody response to protein-conjugated polysaccharide vaccine (HP:0410302) + Mediastinal lymphadenopathy (HP:0100721) Fungal meningitis (HP:0032159) Generalized osteoporosis (HP:0040160) - Elevated circulating soluble CD25 concentration (HP:0033833) Abnormal QT interval (HP:0031547) Decreased proportion of memory B cells (HP:0030374) - Stage 1 chronic kidney disease (HP:0012623) + Hypoplastic iliac body (HP:0008824) + Glioma (HP:0009733) Orthokeratosis (HP:0040162) Hypocalcemic tetany (HP:0003472) Renal phosphate wasting (HP:0000117) @@ -284,44 +254,336 @@ Bilateral perisylvian polymicrogyria (HP:0032407) Subglottic stenosis (HP:0001607) Reticulated skin pigmentation (HP:0007427) - Angulated muscle fibers (HP:0034045) + Hamartoma of tongue (HP:0011802) Impaired toe-walking ability (HP:0034052) - Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) T-wave inversion (HP:0010872) - Angle closure glaucoma (HP:0012109) + Ankle swelling (HP:0001785) + Ground-glass opacification (HP:0025179) Optic disc coloboma (HP:0000588) - Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) + Ileal ulcer (HP:0032024) Shoulder girdle muscle weakness (HP:0003547) Cervical lymphadenopathy (HP:0025289) Short ribs (HP:0000773) - Mitral atresia (HP:0011560) - Keratoconjunctivitis (HP:0001096) - C2-C3 subluxation (HP:0008456) + Abnormality of the mitochondrion (HP:0012103) + Steroetypic upper-extremity movements (HP:5200018) Abnormal exteroceptive sensation (HP:0033747) Difficulty standing (HP:0003698) Axillary freckling (HP:0000997) - Ketoacidosis (HP:0001993) + Abnormality of the cardiovascular system (HP:0001626) Pulmonary bulla (HP:0032446) + Abnormal flash visual evoked potentials (HP:0007928) Recurrent tonsillitis (HP:0011110) Menorrhagia (HP:0000132) - Abnormally low-pitched voice (HP:0010300) - Bacteremia (HP:0031864) - Central scotoma (HP:0000603) + Stage 4 chronic kidney disease (HP:0012626) + Tiger tail banding (HP:0045055) Monotonic speech (HP:0031435) Xanthomatosis (HP:0000991) Bilateral renal hypoplasia (HP:0012584) T-cell lymphoma (HP:0012190) Short eyelashes (HP:0010764) + Recurrent cutaneous abscess formation (HP:0100838) Narrow philtrum (HP:0011829) - Impaired executive functioning (HP:0033051) + Hypertensive crisis (HP:0100735) Gastrointestinal hemorrhage (HP:0002239) Keratinocyte vacuolization (HP:0034703) + Onychotillomania (HP:0032509) + Prolonged bleeding time (HP:0003010) + Hyperphosphaturia (HP:0003109) + Body ache (HP:0033047) + Persistent asymmetrical tonic neck reflex (HP:0032549) + Elevated urinary coproporphyrin level (HP:6000536) + Laryngotracheal stenosis (HP:0004894) + Elevated circulating luteinizing hormone level (HP:0011969) + Disseminated nontuberculous mycobacterial infection (HP:0032283) + Bilateral facial palsy (HP:0430025) + Unroofed coronary sinus (HP:0031297) + Perianal abscess (HP:0009789) + Cleft earlobe (HP:0011265) + Increased circulating interleukin 1beta concentration (HP:6000374) + Peroneal muscle atrophy (HP:0009049) + Carpal synostosis (HP:0009702) + Reduced renal corticomedullary differentiation (HP:0005565) + Enamel hypomineralization (HP:0006285) + Slow-growing hair (HP:0002217) + Progressive visual field defects (HP:0007987) + Alveolar septal thickening (HP:0033376) + Atrichia (HP:0500262) + Increased circulating IgG2 level (HP:0032299) + Anti-integrin antibody positivity (HP:4000025) + Decreased body fat percentage (HP:0041079) + Muscle fiber inclusion bodies (HP:0100299) + Decreased circulating IgG2 level (HP:0008348) + Increased circulating interleukin 18 concentration (HP:0034447) + Foam cells (HP:0003651) + Spontaneous, recurrent epistaxis (HP:0004406) + Corneal dystrophy (HP:0001131) + Cigarette-paper scars (HP:0001073) + Traction bronchiectasis (HP:0032969) + Peritonitis (HP:0002586) + Self-mutilation of tongue and lips due to involuntary movements (HP:0008767) + Temporomandibular joint ankylosis (HP:0012478) + Congenital horizontal nystagmus (HP:0007859) + Decreased urinary uromodulin level (HP:0034886) + Macroorchidism (HP:0000053) + Narrow palm (HP:0004283) + Abdominal situs ambiguus (HP:0031565) + Hypocalciuria (HP:0003127) + Prolonged bleeding after dental extraction (HP:0006298) + White scaling skin (HP:0040190) + Pulmonary capillary hemangiomatosis (HP:0005954) + Generalized-onset motor seizure (HP:0032677) + Anti-islet antigen-2 antibody positivity (HP:0034063) + Cytoplasmic antineutrophil antibody positivity (HP:0032230) + T2 hypointense basal ganglia (HP:0012753) + Bilateral radial aplasia (HP:0004977) + Increased circulating interferon-gamma concentration (HP:0030356) + Laterally extended eyebrow (HP:0011230) + Neuroblastoma (HP:0003006) + Thickening of the tubular basement membrane (HP:0020132) + Labial hypoplasia (HP:0000066) + Pursed lips (HP:0000205) + Hyperisoleucinemia (HP:0010913) + Villous atrophy (HP:0011473) + Decreased glomerular filtration rate (HP:0012213) + Dysostosis multiplex (HP:0000943) + Hoarse voice (HP:0001609) + Pierre-Robin sequence (HP:0000201) + Stage 2 chronic kidney disease (HP:0012624) + Preauricular hair displacement (HP:0009554) + Abnormal blood sodium concentration (HP:0010931) + Increased circulating iron concentration (HP:0003452) + Peripheral pulmonary artery stenosis (HP:0004969) + Degenerative vitreoretinopathy (HP:0007964) + Duplicated collecting system (HP:0000081) + Myokymia (HP:0002411) + Autoimmune antibody positivity (HP:0030057) + Rheumatoid factor positive (HP:0002923) + Scissor gait (HP:0012407) + Prolonged prothrombin time (HP:0008151) + Anomic aphasia (HP:0030784) + Sensory neuropathy (HP:0000763) + Uterus didelphys (HP:0003762) + Impaired heel-walking ability (HP:6000490) + Increased circulating prolactin concentration (HP:0000870) + Osteoporosis of vertebrae (HP:0005625) + Renal artery stenosis (HP:0001920) + Internal carotid artery hypoplasia (HP:0005290) + Reduced sperm motility (HP:0012207) + Cleft ala nasi (HP:0003191) + Dysplasia of the femoral head (HP:0010575) + Increased blood urea nitrogen (HP:0003138) + Reduced circulating prolactin concentration (HP:0008202) + Rectocele (HP:0100822) + Abnormal factor VIII activity (HP:0030976) + Duodenal gastrinoma (HP:0034953) + Abnormal joint morphology (HP:0001367) + Stage 3 chronic kidney disease (HP:0012625) + Lambdoidal craniosynostosis (HP:0004443) + Hypoplasia of the iris (HP:0007676) + Broad distal phalanx of finger (HP:0009836) + Anti-U1 ribonucleoprotein antibody positivity (HP:0033028) + Delayed somatosensory central conduction time (HP:0100291) + Spinal neurofibroma (HP:0009735) + Decreased transferrin saturation (HP:0012464) + Cobblestone-like hyperkeratosis (HP:0031288) + Increased circulating cortisol level (HP:0003118) + Sclerosing cholangitis (HP:0030991) + Giant neutrophil granules (HP:0032499) + Increased iduronate sulfatase level (HP:0003538) + Acral ulceration (HP:0006121) + Nonprogressive encephalopathy (HP:0007030) + Squared iliac bones (HP:0003177) + Cortical thickening of long bone diaphyses (HP:0005791) + Oligozoospermia (HP:0000798) + Bone marrow maturation arrest (HP:0033606) + Narrowing of medullary canal (HP:0032458) + Z-band streaming (HP:0020203) + Squamosal suture synostosis (HP:6000612) + Lung abscess (HP:0025044) + Liver abscess (HP:0100523) + Ureteropelvic junction obstruction (HP:0000074) + Urinary urgency (HP:0000012) + Anti-insulin antibody positivity (HP:0034062) + Pustular rash (HP:0033605) + Elevated circulating myoglobin concentration (HP:0033438) + Neutrophilic infiltration of the skin (HP:0031234) + Elevated circulating D-dimer concentration (HP:0033106) + Lacrimal duct stenosis (HP:0007678) + Hyperechogenic kidneys (HP:0004719) + Proboscis (HP:0012806) + Hot cross bun sign (HP:0041056) + Dysplastic erythropoesis (HP:0012134) + Shoulder contracture (HP:0034665) + Grasp reflex (HP:0030903) + Angular cheilitis (HP:0030318) + Hypoplastic nipples (HP:0002557) + Aortic arch aneurysm (HP:0005113) + Abnormal macular morphology (HP:0001103) + Broad lateral eyebrow (HP:0007933) + Paget disease of bone (HP:0034159) + Weakness of long finger extensor muscles (HP:0009077) + Optic nerve glioma (HP:0009734) + Cardiac rhabdomyoma (HP:0009729) + T-wave alternans (HP:0012266) + Colitis (HP:0002583) + Long-tract signs (HP:0002423) + Reduced muscle collagen VI (HP:0030095) + Deep dermatophytosis (HP:0032515) + Prominent nipples (HP:0004405) + Hand paresthesia (HP:0033660) + Abnormal circulating acylcarnitine concentration (HP:0012071) + Panniculitis (HP:0012490) + Prominent tragus (HP:0011271) + Discordant atrioventricular connection (HP:0011553) + Recurrent mycobacterial infections (HP:0011274) + Hemangioma (HP:0001028) + Increased axial length of the globe (HP:0007800) + Abnormal blood chloride concentration (HP:0011422) + Micronodular cirrhosis (HP:0001413) + Gingivitis (HP:0000230) + Impairment of activities of daily living (HP:0031058) + Astrocytoma (HP:0009592) + Renal angiomyolipoma (HP:0006772) + Elevated stool chloride content (HP:0034470) + Abnormal visual fixation (HP:0025404) + Optic disc hypoplasia (HP:0007766) + Fiber type grouping (HP:0033685) + Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752) + Increased proportion of transitional B cells (HP:0030381) + Hippocampal sclerosis (HP:0033715) + Ileitis (HP:0032564) + Gastric diverticulum (HP:0100808) + Autoamputation of digits (HP:0007460) + Graves disease (HP:0100647) + Thin ear helix (HP:0009905) + Nontuberculous mycobacterial pulmonary infection (HP:0032261) + Temporal cortical atrophy (HP:0007112) + Caudate atrophy (HP:0002340) + Elevated urinary L-glycerate level (HP:6000670) + Elevated fecal pH (HP:0032489) + Cortical cataract (HP:0100019) + Irregularly shaped sperm tail (HP:0033393) + Hypoplasia of the bladder (HP:0005343) + Duodenal stenosis (HP:0100867) + Cone/cone-rod dystrophy (HP:0000548) + Elevated lactate:pyruvate ratio (HP:0032653) + Seborrheic dermatitis (HP:0001051) + Small intestinal perforation (HP:0031370) + Generalized hypoplasia of dental enamel (HP:0006282) + Abnormal sperm head morphology (HP:0012865) + Myelomeningocele (HP:0002475) + Inferior cerebellar vermis hypoplasia (HP:0007068) + Absent nipple (HP:0002561) + Intestinal obstruction (HP:0005214) + Hypernatremic dehydration (HP:0004906) + Abnormal circulating follicle-stimulating hormone concentration (HP:0030346) + Abnormal hepatic iron concentration (HP:0040134) + Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817) + Anti-type VII collagen antibody (HP:4000031) + Empty sella turcica (HP:6000483) + Impaired vibration sensation in the lower limbs (HP:0002166) + Lumbar hemivertebrae (HP:0008439) + Cerebellar glioma (HP:0010795) + Decreased serum estradiol (HP:0008214) + Valvular pulmonary stenosis (HP:0034350) + Miosis (HP:0000616) + Pectus excavatum of inferior sternum (HP:0000915) + Lafora bodies (HP:0100318) + Abnormal mitral valve morphology (HP:0001633) + Neuronal loss in the cerebral cortex (HP:0007190) + Delayed ability to stand (HP:0025335) + Palpebral thickening (HP:0030939) + Branchial sinus (HP:0100272) + Abnormal circulating renin (HP:0040084) + Positive Mycobacterium avium sputum culture (HP:0430108) + Knee clonus (HP:0011449) + Generalized convulsive status epilepticus (HP:0032661) + Increased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500265) + Imperforate hymen (HP:0030011) + Starry sky appearance on hepatic sonography (HP:0031145) + Finger syndactyly (HP:0006101) + Decreased specific antibody response to polysaccharide vaccine (HP:0410299) + Trident acetabulum (HP:0034374) + Malar rash (HP:0025300) + Parotitis (HP:0011850) + Reduced FEV1/FVC ratio (HP:0030877) + Aplasia of the olfactory tract (HP:0020128) + Renal tubular atrophy (HP:0000092) + Muscle fiber necrosis (HP:0003713) + Femoral hernia (HP:0100541) + Diffuse cerebellar atrophy (HP:0100275) + Tubulointerstitial nephritis (HP:0001970) + Abnormally low T cell receptor excision circle level (HP:0031545) + Aplasia/Hypoplasia of the cerebral white matter (HP:0012429) + Aplasia of the premaxilla (HP:0010757) + Partial absence of cerebellar vermis (HP:0002951) + Froment sign (HP:0032121) + Progressive external ophthalmoplegia (HP:0000590) + Meningioma (HP:0002858) + Deep dermal perivascular inflammatory infiltrate (HP:0031191) + Camptodactyly of toe (HP:0001836) + Decreased facial expression (HP:0004673) + Partial albinism (HP:0007443) + Thick oral frenulum (HP:0034414) + Aplasia cutis congenita of scalp (HP:0007385) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) + Orthostatic hypotension (HP:0001278) + Herniation of intervertebral nuclei (HP:0008441) + Hyperleucinemia (HP:0010911) + Breast carcinoma (HP:0003002) + Bilobed right lung (HP:0033183) + Difficulty adjusting to changes in luminance (HP:0030512) + Ecchymosis (HP:0031364) + Butterfly vertebral arch (HP:0004617) + Presyncope (HP:0031972) + Red hair (HP:0002297) + Gastrointestinal atresia (HP:0002589) + Heterotropia (HP:0032012) + Aplasia of the pectoralis major muscle (HP:0009751) + Protruding tongue (HP:0010808) + Progressive visual loss (HP:0000529) + Hypoinsulinemia (HP:0040216) + Renal interstitial fibrosis (HP:0032948) + Elevated circulating soluble CD25 concentration (HP:0033833) + Hippocampal atrophy (HP:0410170) + Stage 1 chronic kidney disease (HP:0012623) + Abnormality of peripheral nervous system electrophysiology (HP:0030177) + Anhidrosis (HP:0000970) + Jaw hyperreflexia (HP:0033683) + Angulated muscle fibers (HP:0034045) + Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295) + Hyperparathyroidism (HP:0000843) + Angle closure glaucoma (HP:0012109) + Acute aspiration pneumonia (HP:0011952) + Open angle glaucoma (HP:0012108) + Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) + Mitral atresia (HP:0011560) + Keratoconjunctivitis (HP:0001096) + C2-C3 subluxation (HP:0008456) + Agenesis of the anterior commissure (HP:0030302) + Ketoacidosis (HP:0001993) + Elevated hepatic iron concentration (HP:0012465) + Cerebellar ataxia associated with quadrupedal gait (HP:0009878) + Dyscalculia (HP:0002442) + Abnormally low-pitched voice (HP:0010300) + Bacteremia (HP:0031864) + Parietal cortical atrophy (HP:0012104) + Central scotoma (HP:0000603) + Coiled sperm flagella (HP:0032560) + Abnormal carpal morphology (HP:0001191) + Discoid lupus rash (HP:0007417) + Scarring (HP:0100699) + Increased urine urobilinogen (HP:0031890) + Diffuse leukoencephalopathy (HP:0006994) + Impaired executive functioning (HP:0033051) Multiple mitochondrial DNA deletions (HP:0003689) + Abnormality of the glabella (HP:0002056) Recurrent patellar dislocation (HP:0005001) Cutaneous mastocytosis (HP:0200151) - Onychotillomania (HP:0032509) + Red urine (HP:0040318) + Inflammation of the large intestine (HP:0002037) + Rachitic rosary (HP:0000897) + Abnormality of ocular smooth pursuit (HP:0000617) Pulmonary lymphangiomyomatosis (HP:0012798) Interstitial emphysema (HP:0032965) - Prolonged bleeding time (HP:0003010) - Body ache (HP:0033047) Pituitary macroadenoma (HP:0025693) diff --git a/missing_translations/spanish.txt b/missing_translations/spanish.txt index e377b82..daf1842 100644 --- a/missing_translations/spanish.txt +++ b/missing_translations/spanish.txt @@ -1,19 +1,28 @@ - Radioulnar subluxation (HP:6000506) + Elevated urinary coproporphyrin level (HP:6000536) + Thickened mitral valve cusp (HP:6000342) Forearm (HP:6000299) Squamosal suture synostosis (HP:6000612) + Positive Mycobacterium avium sputum culture (HP:0430108) + Increased circulating interleukin 1beta concentration (HP:6000374) Impaired heel-walking ability (HP:6000490) Pancreatic atrophy (HP:6000156) - Incomplete right bundle branch block (HP:6000313) Anti-thyroid antibody positivity (HP:0430050) - Empty sella turcica (HP:6000483) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) + Large joint hypermobilty (HP:0430047) + Ectopic testis (HP:6000460) + Elevated urinary L-glycerate level (HP:6000670) + Anti-intrinsic factor antibody positivity (HP:6000344) + Decreased circulating thyroglobulin concentration (HP:6000244) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) + Radioulnar subluxation (HP:6000506) + Incomplete right bundle branch block (HP:6000313) + Empty sella turcica (HP:6000483) Small joint hypermobilty (HP:0430046) Reduced circulating NT-proANP concentration (HP:6000693) - Ectopic testis (HP:6000460) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) Social Anxiety (HP:6000029) - Elevated urinary L-glycerate level (HP:6000670) Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199) Left atrial fibrosis (HP:6000691) - Anti-intrinsic factor antibody positivity (HP:6000344) - Decreased circulating thyroglobulin concentration (HP:6000244) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) diff --git a/missing_translations/turkish.txt b/missing_translations/turkish.txt index bb50572..a9b5e3d 100644 --- a/missing_translations/turkish.txt +++ b/missing_translations/turkish.txt @@ -1,10 +1,13 @@ Persistent asymmetrical tonic neck reflex (HP:0032549) + Elevated urinary coproporphyrin level (HP:6000536) Livedo reticularis (HP:0033505) + Increased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410395) Increased CSF glycine concentration (HP:0500230) Acral overgrowth (HP:0033794) Testicular pain (HP:0033839) Sudden unexpected death in epilepsy (HP:0033258) Tarlov cyst (HP:0025643) + Increased circulating interleukin 1beta concentration (HP:6000374) Pancreatic atrophy (HP:6000156) Anti-dsDNA antibody positivity (HP:0020151) Median pseudocleft lip (HP:0034185) @@ -14,39 +17,51 @@ Convulsive status epilepticus (HP:0032660) Increased circulating interleukin 10 concentration (HP:0033199) Reduced galactocerebrosidase activity (HP:0034322) + Decreased proportion of naive CD8 T cells (HP:0410377) + Alveolar septal thickening (HP:0033376) Atrichia (HP:0500262) Joint contracture (HP:0034392) Synkinesis (HP:0034980) Increased circulating IgG2 level (HP:0032299) Target cells (HP:0034280) + Anti-integrin antibody positivity (HP:4000025) Decreased body fat percentage (HP:0041079) Lupus nephritis (HP:0033726) Hippocampal malrotation (HP:0034396) Renal cortical hyperechogenicity (HP:0033132) + Increased circulating interleukin 18 concentration (HP:0034447) Egg allergy (HP:0410328) Finger joint contracture (HP:0034681) Absent sebaceous glands (HP:0410400) Traction bronchiectasis (HP:0032969) Fetal pericardial effusion (HP:0025671) Hypomature enamel (HP:0033786) + Decreased urinary uromodulin level (HP:0034886) Reduced cerebral white matter volume (HP:0034295) Aplasia of the olfactory bulb (HP:0032466) Action myoclonus (HP:0034360) Elevated left ventricular end-diastolic diameter (HP:0034307) + Oral melanotic macule (HP:0032451) Reduced progressive sperm motility (HP:0034011) Generalized-onset motor seizure (HP:0032677) Anti-islet antigen-2 antibody positivity (HP:0034063) + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208) + Recurrent gingivitis (HP:0034284) Severe giardiasis (HP:0020106) Elevated circulating S-sulfocysteine concentration (HP:0034745) Hypoesthesia (HP:0033748) Dairy allergy (HP:0410327) + Thickening of the tubular basement membrane (HP:0020132) Radioulnar subluxation (HP:6000506) 2:1 atrioventricular block (HP:0034305) Elevated urinary creatine level (HP:0034598) Self hugging (HP:0032521) Small joint hypermobilty (HP:0430046) + Delayed ability to walk with support (HP:0033257) + Elevated fecal sodium (HP:0032484) Gingival fragility (HP:0034518) Acute respiratory distress syndrome (HP:0033677) + Thickened mitral valve cusp (HP:6000342) Impaired heel-walking ability (HP:6000490) Malaise (HP:0033834) Social disinhibition (HP:5200029) @@ -55,20 +70,24 @@ Lumbar hypolordosis (HP:0034770) Cognitive regression (HP:0034332) Elevated urine fumaric acid level (HP:0034648) - Elevated circulating glutarylcarnitine concentration (HP:0033442) Increased CSF glutamate concentration (HP:0500200) + Elevated circulating glutarylcarnitine concentration (HP:0033442) + Reduced fecal osmolality (HP:0032487) Increased fecal calprotectin level (HP:0034056) Motor regression (HP:0033044) Clonic seizure (HP:0020221) Decreased circulating thyroglobulin concentration (HP:6000244) Howell-Jolly bodies (HP:0032550) Elevated circulating lathosterol concentration (HP:0034936) + Elevated circulating tumor necrosis factor alpha concentration (HP:6000239) Seafood allergy (HP:0410333) Anhydramnios (HP:0025700) Bilateral superior vena cava (HP:0033379) Pappenheimer bodies (HP:0020081) Duodenal gastrinoma (HP:0034953) + Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199) Chronotropic incompetence (HP:0033992) + Anti-U1 ribonucleoprotein antibody positivity (HP:0033028) Elevated urinary 2-hydroxybutyric acid (HP:0033409) Persistent head lag (HP:0032988) Absent fetal nasal bone (HP:0025706) @@ -83,6 +102,7 @@ Bone marrow maturation arrest (HP:0033606) Mitral chordae tendinae rupture (HP:0034419) Abnormal affect (HP:5200261) + Narrowing of medullary canal (HP:0032458) Z-band streaming (HP:0020203) Wide cavum septum pellucidum (HP:0034964) Hypertaurinemia (HP:0500181) @@ -92,12 +112,18 @@ Alkaline urine (HP:0032944) Elevated circulating tetradecenoylcarnitine concentration (HP:6000476) Anti-insulin antibody positivity (HP:0034062) + Large joint hypermobilty (HP:0430047) + Pustular rash (HP:0033605) + Elevated circulating myoglobin concentration (HP:0033438) Atypical teratoid/rhabdoid tumor (HP:0034401) + Acidemia (HP:0032368) + Elevated circulating D-dimer concentration (HP:0033106) Phobia (HP:5200232) Nut food product allergy (HP:0410331) Pulmonary cyst (HP:0032445) Ankle contracture (HP:0034677) Hot cross bun sign (HP:0041056) + Shoulder contracture (HP:0034665) Periventricular nodular heterotopia (HP:0032388) Paget disease of bone (HP:0034159) Focal impaired awareness autonomic seizure (HP:0032755) @@ -105,47 +131,71 @@ Limited ankle dorsiflexion (HP:0033526) Dependency on parenteral nutrition (HP:0033994) Deep dermatophytosis (HP:0032515) + Axillary lymphadenopathy (HP:0034752) Hand paresthesia (HP:0033660) Chiari type II malformation (HP:0025660) Reduced granulocyte CD18 level (HP:0032455) Anti-platelet antigen antibody positivity (HP:4000170) Polyembolokoilamania (HP:0032508) + Elevated stool chloride content (HP:0034470) + Genital warts (HP:0032301) Fiber type grouping (HP:0033685) + Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752) Claw hand deformity (HP:0034337) Fetal chylothorax (HP:0025677) Hippocampal sclerosis (HP:0033715) + Ileitis (HP:0032564) Tonic seizure (HP:0032792) + Elevated circulating desmosterol concentration (HP:0034937) + Decreased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410389) Elevated urinary L-glycerate level (HP:6000670) + Elevated fecal pH (HP:0032489) Anti-intrinsic factor antibody positivity (HP:6000344) Decreased proportion of gamma-delta T cells (HP:0500271) + Irregularly shaped sperm tail (HP:0033393) + Cytomegalovirus colitis (HP:0033431) + Elevated lactate:pyruvate ratio (HP:0032653) Skewfoot (HP:0032649) + Pilocytic astrocytoma (HP:0033680) + Focal impaired awareness tonic seizure (HP:0032724) + Decreased CSF glutamine concentration (HP:0500198) Iliac artery aneurysm (HP:4000067) Platelet anisocytosis (HP:0032438) Elbow contracture (HP:0034391) + Anti-type VII collagen antibody (HP:4000031) Incomplete right bundle branch block (HP:6000313) Empty sella turcica (HP:6000483) + Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979) Hyperactive Achilles reflex (HP:0033206) Ventricular bigeminy (HP:0034306) Simple ear (HP:0020206) Decreased proportion of CD4-positive, alpha-beta memory T cells (HP:0410386) Spherophakia (HP:0034375) + Reduced erythrocyte inosine triphosphatase activity (HP:6000511) Valvular pulmonary stenosis (HP:0034350) Abnormal diffusion weighted cerebral MRI morphology (HP:0032615) Hypohomocysteinemia (HP:0020222) Renal interstitial foam cells (HP:0032582) Premature sagging cheeks (HP:0034273) Hypoplastic optic chiasm (HP:0034311) + Positive Mycobacterium avium sputum culture (HP:0430108) Elevated haptoglobin level (HP:0020180) Limited shoulder flexion (HP:0033482) Anti-thyroid antibody positivity (HP:0430050) + Generalized convulsive status epilepticus (HP:0032661) Decreased seeking of relationships (HP:5200320) + Increased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500265) Trident acetabulum (HP:0034374) + Pulmonary nodule (HP:0033608) Shark teeth (HP:4000168) Livedo racemosa (HP:0033260) Hepatic sinusoidal dilatation (HP:0035006) + Pronoun reversal (HP:4000073) Aplasia of the olfactory tract (HP:0020128) Focal aware motor seizure (HP:0020217) + Abnormal eye contact (HP:0034435) Reduced haptoglobin level (HP:0020181) + Absent otoacoustic emissions (HP:6000182) Submucous cleft palate (HP:5201016) Reduced antral follicle count (HP:0033085) Vertebral artery tortuosity (HP:0033981) @@ -153,9 +203,12 @@ Elevated brain glycine level by MRS (HP:0034893) Spastic triplegia (HP:0034183) Thin corpus callosum (HP:0033725) + Thick oral frenulum (HP:0034414) + Elevated erythrocyte inosine triphosphate concentration (HP:6000510) Weak grip (HP:0033466) Fractured elbow (HP:0041219) Chronic cough (HP:0034315) + Bilobed right lung (HP:0033183) Distal joint hypermobility (HP:0020152) BCGosis (HP:0020087) Anti-Sm antibody positivity (HP:0033040) @@ -163,12 +216,14 @@ Circumoral cyanosis (HP:0032556) Reduced circulating growth hormone concentration (HP:0034323) Increased circulating brain natriuretic peptide concentration (HP:0033534) + Renal interstitial fibrosis (HP:0032948) Abnormal response to social norms (HP:5200123) Elevated circulating soluble CD25 concentration (HP:0033833) Obstipation (HP:0034782) Social Anxiety (HP:6000029) External tibial torsion (HP:0034373) Bilateral perisylvian polymicrogyria (HP:0032407) + Jaw hyperreflexia (HP:0033683) Angulated muscle fibers (HP:0034045) Impaired toe-walking ability (HP:0034052) Sensory behavioral abnormality (HP:5200046) @@ -178,6 +233,7 @@ Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773) Sulfocysteinuria (HP:0032350) Neonatal omphalitis (HP:0032435) + Steroetypic upper-extremity movements (HP:5200018) Myoclonic seizure (HP:0032794) Abnormal exteroceptive sensation (HP:0033747) Subglottic laryngitis (HP:0033000) @@ -186,6 +242,8 @@ Pulmonary bulla (HP:0032446) Drug allergy (HP:0410323) Tube feeding (HP:0033454) + Coiled sperm flagella (HP:0032560) + Labial melanotic macule (HP:0032454) Knee contracture (HP:0034671) Hepatic hemophagocytosis (HP:0034797) Reduced circulating NT-proANP concentration (HP:6000693)