Pheno-Ranker
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utils/bff_pxf_simulator/Ontologies.pm view on Meta::CPAN
},
{ id => 'HP:0003174', label => 'Abnormality of the ischium' },
{ id => 'HP:0003366', label => 'Abnormal femoral neck/head morphology' },
{ id => 'HP:0003963', label => 'Lytic defects of the forearm bones' },
{ id => 'HP:0004150', label => 'Abnormal 3rd finger morphology' },
{
id => 'HP:0004362',
label => 'Abnormality of enteric ganglion morphology'
},
{ id => 'HP:0004736', label => 'Crossed fused renal ectopia' },
{ id => 'HP:0005035', label => 'Shortening of all phalanges of the toes' },
{ id => 'HP:0005656', label => 'Positional foot deformity' },
{ id => 'HP:0005830', label => 'Flexion contracture of toe' },
{
id => 'HP:0006817',
label => 'Aplasia/Hypoplasia of the cerebellar vermis'
},
{ id => 'HP:0007400', label => 'Irregular hyperpigmentation' },
{ id => 'HP:0008066', label => 'Abnormal blistering of the skin' },
{ id => 'HP:0008264', label => 'Neutrophil inclusion bodies' },
{
id => 'HP:0009138',
label => 'Synostosis involving bones of the lower limbs'
},
{ id => 'HP:0009404', label => 'Broad phalanges of the 4th finger' },
{ id => 'HP:0009412', label => 'Cone-shaped epiphyses of the 3rd finger' },
{
id => 'HP:0009421',
label => 'Aplasia/Hypoplasia of the distal phalanx of the 3rd finger'
},
{ id => 'HP:0009489', label => 'Bracket epiphyses of the 2nd finger' },
{
id => 'HP:0009500',
label =>
'Abnormality of the epiphysis of the middle phalanx of the 2nd finger'
},
{
id => 'HP:0009618',
label => 'Abnormality of the proximal phalanx of the thumb'
},
{ id => 'HP:0009810', label => 'Abnormality of upper limb joint' },
{ id => 'HP:0010160', label => 'Abnormal toe epiphysis morphology' },
{ id => 'HP:0010178', label => 'Patchy sclerosis of toe phalanx' },
{
id => 'HP:0010250',
label =>
'Fragmentation of the epiphyses of the distal phalanges of the hand'
},
{ id => 'HP:0010501', label => 'Limitation of knee mobility' },
{ id => 'HP:0010514', label => 'Hyperpituitarism' },
{ id => 'HP:0010784', label => 'Uterine neoplasm' },
{ id => 'HP:0010841', label => 'Multifocal epileptiform discharges' },
{
id => 'HP:0010930',
label => 'Abnormal blood monovalent inorganic cation concentration'
},
{ id => 'HP:0010969', label => 'Abnormality of glycolipid metabolism' },
{ id => 'HP:0011037', label => 'Decreased urine output' },
{ id => 'HP:0011123', label => 'Inflammatory abnormality of the skin' },
{ id => 'HP:0011176', label => 'EEG with constitutional variants' },
{ id => 'HP:0011315', label => 'Unicoronal synostosis' },
{ id => 'HP:0011488', label => 'Abnormal corneal endothelium morphology' },
{ id => 'HP:0011636', label => 'Abnormal coronary artery origin' },
{ id => 'HP:0012034', label => 'Liposarcoma' },
{
id => 'HP:0012092',
label => 'Abnormality of exocrine pancreas physiology'
},
{ id => 'HP:0012210', label => 'Abnormal renal morphology' },
{ id => 'HP:0012310', label => 'Abnormal monocyte count' },
{ id => 'HP:0012780', label => 'Neoplasm of the ear' },
{ id => 'HP:0012836', label => 'Spatial pattern' },
{ id => 'HP:0025429', label => 'Abnormal cry' },
{ id => 'HP:0025487', label => 'Abnormality of bladder morphology' },
{ id => 'HP:0025592', label => 'Superior oblique muscle weakness' },
{ id => 'HP:0025646', label => 'Bilateral polymicrogyria' },
{ id => 'HP:0030047', label => 'Abnormal lateral ventricle morphology' },
{ id => 'HP:0030113', label => 'Abnormal muscle fiber dysferlin' },
{ id => 'HP:0030119', label => 'Abnormal muscle fiber calpain-3' },
{ id => 'HP:0030493', label => 'Abnormality of foveal pigmentation' },
{ id => 'HP:0030604', label => 'Abnormal fundus fluorescein angiography' },
{ id => 'HP:0030746', label => 'Intraventricular hemorrhage' },
{ id => 'HP:0030828', label => 'Wheezing' },
{ id => 'HP:0031607', label => 'Pelvic organ prolapse' },
{ id => 'HP:0031704', label => 'Abnormal ear physiology' },
{ id => 'HP:0031753', label => 'Medial rectus muscle weakness' },
{ id => 'HP:0032011', label => 'Heterophoria' },
{ id => 'HP:0032184', label => 'Increased proportion of memory T cells' },
{ id => 'HP:0032422', label => 'Abnormal HDL2b concentration' },
{ id => 'HP:0032900', label => 'Focal manual automatism seizure' },
{
id => 'HP:0033095',
label => 'Increased sulfur amino acid level in urine'
},
{ id => 'HP:0033823', label => 'Mediastinal mass' },
{ id => 'HP:0034022', label => 'Anti-HLA-B antibody positivity' },
{ id => 'HP:0040195', label => 'Decreased head circumference' },
{ id => 'HP:0100569', label => 'Abnormally ossified vertebrae' },
{ id => 'HP:0100612', label => 'Odontogenic neoplasm' },
{ id => 'HP:0200040', label => 'Epidermoid cyst' },
{ id => 'HP:0200042', label => 'Skin ulcer' },
{ id => 'HP:0200065', label => 'Chorioretinal degeneration' },
{ id => 'HP:0200114', label => 'Metabolic alkalosis' },
{ id => 'HP:0200160', label => 'Agenesis of maxillary incisor' },
{ id => 'HP:0410033', label => 'Unilateral alveolar cleft of maxilla' },
{ id => 'HP:0500020', label => 'Abnormal cardiac biomarker test' },
{ id => 'HP:0500073', label => 'Abnormal ocular alignment' },
{ id => 'HP:0500093', label => 'Food allergy' },
{
id => 'HP:0500155',
label => 'Abnormal circulating asparagine concentration'
},
{
id => 'HP:0500158',
label => 'Abnormal circulating aspartic acid concentration'
},
{
id => 'HP:5200018',
label => 'Abnormal movements of the upper extremities'
},
{ id => 'HP:5200027', label => 'Abnormal social initiation' }
];
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