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{"disease_id":105400,"disease_name":"Amyotrophic lateral sclerosis 1","hpo_term_id":"HP:0007354","hpo_term_name":"Amyotrophic lateral sclerosis"}
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{"disease_id":105500,"disease_name":"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}","hpo_term_id":"HP:0002366","hpo_term_name":"Abnormal lower motor neuron morphology"}
{"disease_id":105500,"disease_name":"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}","hpo_term_id":"HP:0003394","hpo_term_name":"Muscle cramps"}
{"disease_id":105500,"disease_name":"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}","hpo_term_id":"HP:0003470","hpo_term_name":"Paralysis"}
{"disease_id":105500,"disease_name":"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}","hpo_term_id":"HP:0007354","hpo_term_name":"Amyotrophic lateral sclerosis"}
{"disease_id":105550,"disease_name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1","hpo_term_id":"HP:0000605","hpo_term_name":"Supranuclear gaze palsy"}
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{"disease_id":109400,"disease_name":"Basal cell nevus syndrome","hpo_term_id":"HP:0010603","hpo_term_name":"Odontogenic keratocysts of the jaw"}
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{"disease_id":109400,"disease_name":"Basal cell nevus syndrome","hpo_term_id":"HP:0010617","hpo_term_name":"Cardiac fibroma"}
{"disease_id":109400,"disease_name":"Basal cell nevus syndrome","hpo_term_id":"HP:0010618","hpo_term_name":"Ovarian fibroma"}
{"disease_id":109400,"disease_name":"Basal cell nevus syndrome","hpo_term_id":"HP:0025318","hpo_term_name":"Ovarian carcinoma"}
{"disease_id":109400,"disease_name":"Basal cell nevus syndrome","hpo_term_id":"HP:0200021","hpo_term_name":"Down-sloping shoulders"}
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{"disease_id":109730,"disease_name":"Aortic valve disease 1","hpo_term_id":"HP:0011560","hpo_term_name":"Mitral atresia"}
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{"disease_id":110100,"disease_name":"Blepharophimosis, epicanthus inversus, and ptosis","hpo_term_id":"HP:0008222","hpo_term_name":"Female infertility"}
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{"disease_id":112240,"disease_name":"Cole-Carpenter syndrome 1","hpo_term_id":"HP:0001334","hpo_term_name":"Communicating hydrocephalus"}
{"disease_id":112240,"disease_name":"Cole-Carpenter syndrome 1","hpo_term_id":"HP:0001620","hpo_term_name":"High pitched voice"}
{"disease_id":112240,"disease_name":"Cole-Carpenter syndrome 1","hpo_term_id":"HP:0002007","hpo_term_name":"Frontal bossing"}
{"disease_id":112240,"disease_name":"Cole-Carpenter syndrome 1","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
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{"disease_id":112240,"disease_name":"Cole-Carpenter syndrome 1","hpo_term_id":"HP:0004440","hpo_term_name":"Coronal craniosynostosis"}
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{"disease_id":112310,"disease_name":"Boomerang dysplasia","hpo_term_id":"HP:0003510","hpo_term_name":"Epicanthus"}
{"disease_id":112310,"disease_name":"Boomerang dysplasia","hpo_term_id":"HP:0003974","hpo_term_name":"Absent radius"}
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{"disease_id":112310,"disease_name":"Boomerang dysplasia","hpo_term_id":"HP:0008824","hpo_term_name":"Hypoplastic iliac body"}
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{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0001798","hpo_term_name":"Anonychia"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0001804","hpo_term_name":"Hypoplastic fingernail"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0002937","hpo_term_name":"Hemivertebrae"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0002944","hpo_term_name":"Thoracolumbar scoliosis"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0002948","hpo_term_name":"Vertebral fusion"}
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{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0004590","hpo_term_name":"Hypoplastic sacrum"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0005819","hpo_term_name":"Short middle phalanx of finger"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0005831","hpo_term_name":"Type B brachydactyly"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0009473","hpo_term_name":"Joint contracture of the hand"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0009835","hpo_term_name":"Aplasia/Hypoplasia of the distal phalanges of the hand"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0010185","hpo_term_name":"Aplasia/Hypoplasia of the distal phalanges of the toes"}
{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0010554","hpo_term_name":"Cutaneous finger syndactyly"}
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{"disease_id":113000,"disease_name":"Brachydactyly, type B1","hpo_term_id":"HP:0012385","hpo_term_name":"Camptodactyly"}
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{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0001772","hpo_term_name":"Talipes equinovalgus"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0002750","hpo_term_name":"Delayed skeletal maturation"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0003067","hpo_term_name":"Madelung deformity"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0004209","hpo_term_name":"Clinodactyly of the 5th finger"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":113100,"disease_name":"Brachydactyly, type C","hpo_term_id":"HP:0005819","hpo_term_name":"Short middle phalanx of finger"}
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{"disease_id":115150,"disease_name":"Cardiofaciocutaneous syndrome 1","hpo_term_id":"HP:0001003","hpo_term_name":"Multiple lentigines"}
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{"disease_id":115150,"disease_name":"Cardiofaciocutaneous syndrome 1","hpo_term_id":"HP:0001048","hpo_term_name":"Cavernous hemangioma"}
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{"disease_id":119500,"disease_name":"Popliteal pterygium syndrome 1","hpo_term_id":"HP:0009754","hpo_term_name":"Fibrous syngnathia"}
{"disease_id":119500,"disease_name":"Popliteal pterygium syndrome 1","hpo_term_id":"HP:0009755","hpo_term_name":"Ankyloblepharon"}
{"disease_id":119500,"disease_name":"Popliteal pterygium syndrome 1","hpo_term_id":"HP:0009756","hpo_term_name":"Popliteal pterygium"}
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{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0000453","hpo_term_name":"Choanal atresia"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0000668","hpo_term_name":"Hypodontia"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0000698","hpo_term_name":"Conical tooth"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0001792","hpo_term_name":"Small nail"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0002023","hpo_term_name":"Anal atresia"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0007651","hpo_term_name":"Ectropion of lower eyelids"}
{"disease_id":119580,"disease_name":"Blepharocheilodontic syndrome 1","hpo_term_id":"HP:0008070","hpo_term_name":"Sparse hair"}
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{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0001636","hpo_term_name":"Tetralogy of Fallot"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0001643","hpo_term_name":"Patent ductus arteriosus"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0001798","hpo_term_name":"Anonychia"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002209","hpo_term_name":"Sparse scalp hair"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002219","hpo_term_name":"Facial hypertrichosis"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002566","hpo_term_name":"Intestinal malrotation"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002576","hpo_term_name":"Intussusception"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002588","hpo_term_name":"Duodenal ulcer"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002592","hpo_term_name":"Gastric ulcer"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002673","hpo_term_name":"Coxa valga"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002750","hpo_term_name":"Delayed skeletal maturation"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0002808","hpo_term_name":"Kyphosis"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0003083","hpo_term_name":"Dislocated radial head"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0003298","hpo_term_name":"Spina bifida occulta"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0004227","hpo_term_name":"Short distal phalanx of the 5th finger"}
{"disease_id":135900,"disease_name":"Coffin-Siris syndrome 1","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
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{"disease_id":140000,"disease_name":"Hand-foot-uterus syndrome","hpo_term_id":"HP:0000076","hpo_term_name":"Vesicoureteral reflux"}
{"disease_id":140000,"disease_name":"Hand-foot-uterus syndrome","hpo_term_id":"HP:0000083","hpo_term_name":"Renal insufficiency"}
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{"disease_id":140000,"disease_name":"Hand-foot-uterus syndrome","hpo_term_id":"HP:0010105","hpo_term_name":"Short first metatarsal"}
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{"disease_id":140000,"disease_name":"Hand-foot-uterus syndrome","hpo_term_id":"HP:0012330","hpo_term_name":"Pyelonephritis"}
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{"disease_id":141500,"disease_name":"Migraine, familial hemiplegic, 1","hpo_term_id":"HP:0001289","hpo_term_name":"Confusion"}
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{"disease_id":141500,"disease_name":"Migraine, familial hemiplegic, 1","hpo_term_id":"HP:0002442","hpo_term_name":"Dyscalculia"}
{"disease_id":141500,"disease_name":"Migraine, familial hemiplegic, 1","hpo_term_id":"HP:0008765","hpo_term_name":"Auditory hallucinations"}
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{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0000684","hpo_term_name":"Delayed eruption of teeth"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0000687","hpo_term_name":"Widely spaced teeth"}
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{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0000914","hpo_term_name":"Shield chest"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0001371","hpo_term_name":"Flexion contracture"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0001373","hpo_term_name":"Joint dislocation"}
{"disease_id":143095,"disease_name":"Spondyloepiphyseal dysplasia with congenital joint dislocations","hpo_term_id":"HP:0001552","hpo_term_name":"Barrel-shaped chest"}
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{"disease_id":149730,"disease_name":"LADD syndrome","hpo_term_id":"HP:0009740","hpo_term_name":"Aplasia of the parotid gland"}
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{"disease_id":149730,"disease_name":"LADD syndrome","hpo_term_id":"HP:0032107","hpo_term_name":"Limbal stem cell deficiency"}
{"disease_id":149730,"disease_name":"LADD syndrome","hpo_term_id":"HP:0100258","hpo_term_name":"Preaxial polydactyly"}
{"disease_id":149730,"disease_name":"LADD syndrome","hpo_term_id":"HP:0100583","hpo_term_name":"Corneal perforation"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000204","hpo_term_name":"Cleft upper lip"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000272","hpo_term_name":"Malar flattening"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000405","hpo_term_name":"Conductive hearing impairment"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000586","hpo_term_name":"Shallow orbits"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000668","hpo_term_name":"Hypodontia"}
{"disease_id":150250,"disease_name":"Larsen syndrome","hpo_term_id":"HP:0000767","hpo_term_name":"Pectus excavatum"}
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{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0002669","hpo_term_name":"Osteosarcoma"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0002894","hpo_term_name":"Neoplasm of the pancreas"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0003002","hpo_term_name":"Breast carcinoma"}
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{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0012125","hpo_term_name":"Prostate cancer"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0030078","hpo_term_name":"Lung adenocarcinoma"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0030448","hpo_term_name":"Soft tissue sarcoma"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0100768","hpo_term_name":"Choriocarcinoma"}
{"disease_id":151623,"disease_name":"Li-Fraumeni syndrome 1","hpo_term_id":"HP:0100787","hpo_term_name":"Prostate neoplasm"}
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{"disease_id":162800,"disease_name":"Neutropenia, cyclic","hpo_term_id":"HP:0000153","hpo_term_name":"Abnormality of the mouth"}
{"disease_id":162800,"disease_name":"Neutropenia, cyclic","hpo_term_id":"HP:0001875","hpo_term_name":"Neutropenia"}
{"disease_id":162800,"disease_name":"Neutropenia, cyclic","hpo_term_id":"HP:0001945","hpo_term_name":"Fever"}
{"disease_id":162800,"disease_name":"Neutropenia, cyclic","hpo_term_id":"HP:0040289","hpo_term_name":"Cyclic neutropenia"}
{"disease_id":162830,"disease_name":"Neutrophilia, hereditary","hpo_term_id":"HP:0001433","hpo_term_name":"Hepatosplenomegaly"}
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{"disease_id":166600,"disease_name":"Osteopetrosis, autosomal dominant 2","hpo_term_id":"HP:0007209","hpo_term_name":"Facial paralysis"}
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{"disease_id":166600,"disease_name":"Osteopetrosis, autosomal dominant 2","hpo_term_id":"HP:0011002","hpo_term_name":"Osteopetrosis"}
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{"disease_id":168600,"disease_name":"{Parkinson disease, susceptibility to}","hpo_term_id":"HP:0002529","hpo_term_name":"Neuronal loss in central nervous system"}
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{"disease_id":175200,"disease_name":"Peutz-Jeghers syndrome","hpo_term_id":"HP:0100759","hpo_term_name":"Clubbing of fingers"}
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{"disease_id":175700,"disease_name":"Greig cephalopolysyndactyly syndrome","hpo_term_id":"HP:0000270","hpo_term_name":"Delayed cranial suture closure"}
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{"disease_id":177200,"disease_name":"Liddle syndrome 1","hpo_term_id":"HP:0001949","hpo_term_name":"Hypokalemic alkalosis"}
{"disease_id":177200,"disease_name":"Liddle syndrome 1","hpo_term_id":"HP:0002900","hpo_term_name":"Hypokalemia"}
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{"disease_id":178500,"disease_name":"Interstitial lung disease 2 + {Pulmonary fibrosis, idiopathic, susceptibility to}","hpo_term_id":"HP:0002092","hpo_term_name":"Pulmonary arterial hypertension"}
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{"disease_id":178500,"disease_name":"Interstitial lung disease 2 + {Pulmonary fibrosis, idiopathic, susceptibility to}","hpo_term_id":"HP:0002206","hpo_term_name":"Pulmonary fibrosis"}
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{"disease_id":178500,"disease_name":"Interstitial lung disease 2 + {Pulmonary fibrosis, idiopathic, susceptibility to}","hpo_term_id":"HP:0010702","hpo_term_name":"Increased antibody level in blood"}
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{"disease_id":186500,"disease_name":"Multiple synostoses syndrome 1","hpo_term_id":"HP:0009843","hpo_term_name":"Aplasia/Hypoplasia of the middle phalanges of the hand"}
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{"disease_id":186500,"disease_name":"Multiple synostoses syndrome 1","hpo_term_id":"HP:0010624","hpo_term_name":"Aplastic/hypoplastic toenail"}
{"disease_id":186500,"disease_name":"Multiple synostoses syndrome 1","hpo_term_id":"HP:0030084","hpo_term_name":"Clinodactyly"}
{"disease_id":186550,"disease_name":"Liebenberg syndrome","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":186550,"disease_name":"Liebenberg syndrome","hpo_term_id":"HP:0001191","hpo_term_name":"Abnormality of the carpal bones"}
{"disease_id":186550,"disease_name":"Liebenberg syndrome","hpo_term_id":"HP:0001233","hpo_term_name":"2-3 finger syndactyly"}
{"disease_id":186550,"disease_name":"Liebenberg syndrome","hpo_term_id":"HP:0002987","hpo_term_name":"Elbow flexion contracture"}
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{"disease_id":193220,"disease_name":"Vitreoretinochoroidopathy + ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":193220,"disease_name":"Vitreoretinochoroidopathy + ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2","hpo_term_id":"HP:0007641","hpo_term_name":"Dyschromatopsia"}
{"disease_id":193220,"disease_name":"Vitreoretinochoroidopathy + ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2","hpo_term_id":"HP:0007661","hpo_term_name":"Abnormality of chorioretinal pigmentation"}
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{"disease_id":193700,"disease_name":"Arthrogryposis, distal, type 2A","hpo_term_id":"HP:0001623","hpo_term_name":"Breech presentation"}
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{"disease_id":193700,"disease_name":"Arthrogryposis, distal, type 2A","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":193700,"disease_name":"Arthrogryposis, distal, type 2A","hpo_term_id":"HP:0002365","hpo_term_name":"Hypoplasia of the brainstem"}
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{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0001539","hpo_term_name":"Omphalocele"}
{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0001629","hpo_term_name":"Ventricular septal defect"}
{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
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{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0003241","hpo_term_name":"External genital hypoplasia"}
{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0003298","hpo_term_name":"Spina bifida occulta"}
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{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0004442","hpo_term_name":"Sagittal craniosynostosis"}
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{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0010275","hpo_term_name":"Pseudoepiphyses of the proximal phalanges of the hand"}
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{"disease_id":201000,"disease_name":"Carpenter syndrome 1","hpo_term_id":"HP:0012385","hpo_term_name":"Camptodactyly"}
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{"disease_id":201100,"disease_name":"Acrodermatitis enteropathica","hpo_term_id":"HP:0000737","hpo_term_name":"Irritability"}
{"disease_id":201100,"disease_name":"Acrodermatitis enteropathica","hpo_term_id":"HP:0001251","hpo_term_name":"Ataxia"}
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{"disease_id":209300,"disease_name":"Atransferrinemia","hpo_term_id":"HP:0012239","hpo_term_name":"Atransferrinemia"}
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{"disease_id":213300,"disease_name":"Joubert syndrome 1","hpo_term_id":"HP:0000742","hpo_term_name":"Self-mutilation"}
{"disease_id":213300,"disease_name":"Joubert syndrome 1","hpo_term_id":"HP:0000752","hpo_term_name":"Hyperactivity"}
{"disease_id":213300,"disease_name":"Joubert syndrome 1","hpo_term_id":"HP:0001162","hpo_term_name":"Postaxial hand polydactyly"}
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{"disease_id":218040,"disease_name":"Costello syndrome","hpo_term_id":"HP:0000286","hpo_term_name":"Epicanthus"}
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{"disease_id":226900,"disease_name":"Epiphyseal dysplasia, multiple, 4","hpo_term_id":"HP:0003370","hpo_term_name":"Flat capital femoral epiphysis"}
{"disease_id":226900,"disease_name":"Epiphyseal dysplasia, multiple, 4","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
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{"disease_id":226900,"disease_name":"Epiphyseal dysplasia, multiple, 4","hpo_term_id":"HP:0008802","hpo_term_name":"Hypoplasia of the femoral head"}
{"disease_id":226900,"disease_name":"Epiphyseal dysplasia, multiple, 4","hpo_term_id":"HP:0010049","hpo_term_name":"Short metacarpal"}
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{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0000580","hpo_term_name":"Pigmentary retinopathy"}
{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0001256","hpo_term_name":"Intellectual disability, mild"}
{"disease_id":226960,"disease_name":"Lowry-Wood syndrome","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
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{"disease_id":228600,"disease_name":"Hyaline fibromatosis syndrome","hpo_term_id":"HP:0002014","hpo_term_name":"Diarrhea"}
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{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0001772","hpo_term_name":"Talipes equinovalgus"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0001792","hpo_term_name":"Small nail"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0002990","hpo_term_name":"Fibular aplasia"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0002999","hpo_term_name":"Patellar dislocation"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0003038","hpo_term_name":"Fibular hypoplasia"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0004097","hpo_term_name":"Deviation of finger"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0006092","hpo_term_name":"Malaligned carpal bone"}
{"disease_id":228900,"disease_name":"Acromesomelic dysplasia 2B","hpo_term_id":"HP:0008119","hpo_term_name":"Deformed tarsal bones"}
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{"disease_id":256300,"disease_name":"Nephrotic syndrome, type 1","hpo_term_id":"HP:0008677","hpo_term_name":"Congenital nephrotic syndrome"}
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{"disease_id":256370,"disease_name":"Nephrotic syndrome, type 4","hpo_term_id":"HP:0000097","hpo_term_name":"Focal segmental glomerulosclerosis"}
{"disease_id":256370,"disease_name":"Nephrotic syndrome, type 4","hpo_term_id":"HP:0000100","hpo_term_name":"Nephrotic syndrome"}
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{"disease_id":256370,"disease_name":"Nephrotic syndrome, type 4","hpo_term_id":"HP:0002667","hpo_term_name":"Nephroblastoma"}
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{"disease_id":256450,"disease_name":"Hyperinsulinemic hypoglycemia, familial 1","hpo_term_id":"HP:0001520","hpo_term_name":"Large for gestational age"}
{"disease_id":256450,"disease_name":"Hyperinsulinemic hypoglycemia, familial 1","hpo_term_id":"HP:0002173","hpo_term_name":"Hypoglycemic seizures"}
{"disease_id":256450,"disease_name":"Hyperinsulinemic hypoglycemia, familial 1","hpo_term_id":"HP:0004510","hpo_term_name":"Pancreatic islet-cell hyperplasia"}
{"disease_id":256500,"disease_name":"Netherton syndrome","hpo_term_id":"HP:0000535","hpo_term_name":"Sparse and thin eyebrow"}
{"disease_id":256500,"disease_name":"Netherton syndrome","hpo_term_id":"HP:0001019","hpo_term_name":"Erythroderma"}
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{"disease_id":260660,"disease_name":"Cousin syndrome","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":260660,"disease_name":"Cousin syndrome","hpo_term_id":"HP:0000482","hpo_term_name":"Microcornea"}
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{"disease_id":260660,"disease_name":"Cousin syndrome","hpo_term_id":"HP:0000581","hpo_term_name":"Blepharophimosis"}
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{"disease_id":275900,"disease_name":"Troyer syndrome","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":275900,"disease_name":"Troyer syndrome","hpo_term_id":"HP:0001256","hpo_term_name":"Intellectual disability, mild"}
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{"disease_id":275900,"disease_name":"Troyer syndrome","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":275900,"disease_name":"Troyer syndrome","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
{"disease_id":275900,"disease_name":"Troyer syndrome","hpo_term_id":"HP:0001272","hpo_term_name":"Cerebellar atrophy"}
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{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000179","hpo_term_name":"Thick lower lip vermilion"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000248","hpo_term_name":"Brachycephaly"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000286","hpo_term_name":"Epicanthus"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000322","hpo_term_name":"Short philtrum"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000396","hpo_term_name":"Overfolded helix"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000405","hpo_term_name":"Conductive hearing impairment"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000431","hpo_term_name":"Wide nasal bridge"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000465","hpo_term_name":"Webbed neck"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000480","hpo_term_name":"Retinal coloboma"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000687","hpo_term_name":"Widely spaced teeth"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0000972","hpo_term_name":"Palmoplantar hyperkeratosis"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001176","hpo_term_name":"Large hands"}
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{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
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{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001357","hpo_term_name":"Plagiocephaly"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001507","hpo_term_name":"Growth abnormality"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001520","hpo_term_name":"Large for gestational age"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001629","hpo_term_name":"Ventricular septal defect"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001636","hpo_term_name":"Tetralogy of Fallot"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001669","hpo_term_name":"Transposition of the great arteries"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0001833","hpo_term_name":"Long foot"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0002007","hpo_term_name":"Frontal bossing"}
{"disease_id":280000,"disease_name":"CHIME syndrome","hpo_term_id":"HP:0002059","hpo_term_name":"Cerebral atrophy"}
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{"disease_id":300835,"disease_name":"Anemia, X-linked, with/without neutropenia and/or platelet abnormalities","hpo_term_id":"HP:0012135","hpo_term_name":"Abnormal granulocytopoietic cell morphology"}
{"disease_id":300842,"disease_name":"McLeod syndrome with or without chronic granulomatous disease","hpo_term_id":"HP:0000707","hpo_term_name":"Abnormality of the nervous system"}
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{"disease_id":309800,"disease_name":"Microphthalmia, syndromic 1","hpo_term_id":"HP:0002089","hpo_term_name":"Pulmonary hypoplasia"}
{"disease_id":309800,"disease_name":"Microphthalmia, syndromic 1","hpo_term_id":"HP:0002251","hpo_term_name":"Aganglionic megacolon"}
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{"disease_id":309800,"disease_name":"Microphthalmia, syndromic 1","hpo_term_id":"HP:0002751","hpo_term_name":"Kyphoscoliosis"}
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{"disease_id":310300,"disease_name":"Emery-Dreifuss muscular dystrophy 1","hpo_term_id":"HP:0002987","hpo_term_name":"Elbow flexion contracture"}
{"disease_id":310300,"disease_name":"Emery-Dreifuss muscular dystrophy 1","hpo_term_id":"HP:0003198","hpo_term_name":"Myopathy"}
{"disease_id":310300,"disease_name":"Emery-Dreifuss muscular dystrophy 1","hpo_term_id":"HP:0003236","hpo_term_name":"Elevated serum creatine phosphokinase"}
{"disease_id":310300,"disease_name":"Emery-Dreifuss muscular dystrophy 1","hpo_term_id":"HP:0004631","hpo_term_name":"Decreased cervical spine flexion due to contractures of posterior cervical muscles"}
{"disease_id":310300,"disease_name":"Emery-Dreifuss muscular dystrophy 1","hpo_term_id":"HP:0011807","hpo_term_name":"Type 1 muscle fiber atrophy"}
{"disease_id":310400,"disease_name":"Myotubular myopathy, X-linked","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":310400,"disease_name":"Myotubular myopathy, X-linked","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
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{"disease_id":400045,"disease_name":"46XX sex reversal 1","hpo_term_id":"HP:0012245","hpo_term_name":"Sex reversal"}
{"disease_id":400045,"disease_name":"46XX sex reversal 1","hpo_term_id":"HP:0012861","hpo_term_name":"Ovotestis"}
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{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0000037","hpo_term_name":"Male pseudohermaphroditism"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0000774","hpo_term_name":"Narrow chest"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0001320","hpo_term_name":"Cerebellar vermis hypoplasia"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0001591","hpo_term_name":"Bell-shaped thorax"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0002983","hpo_term_name":"Micromelia"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0003510","hpo_term_name":"Epicanthus"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0007676","hpo_term_name":"Hypoplasia of the iris"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0009803","hpo_term_name":"Short phalanx of finger"}
{"disease_id":600092,"disease_name":"Nivelon-Nivelon-Mabille syndrome","hpo_term_id":"HP:0010049","hpo_term_name":"Short metacarpal"}
{"disease_id":600105,"disease_name":"Retinitis pigmentosa 12","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":600105,"disease_name":"Retinitis pigmentosa 12","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
{"disease_id":600105,"disease_name":"Retinitis pigmentosa 12","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":600110,"disease_name":"Stargardt disease 3","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":600110,"disease_name":"Stargardt disease 3","hpo_term_id":"HP:0007401","hpo_term_name":"Macular atrophy"}
{"disease_id":600110,"disease_name":"Stargardt disease 3","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":600110,"disease_name":"Stargardt disease 3","hpo_term_id":"HP:0007754","hpo_term_name":"Macular dystrophy"}
{"disease_id":600110,"disease_name":"Stargardt disease 3","hpo_term_id":"HP:0011507","hpo_term_name":"Macular flecks"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0000726","hpo_term_name":"Dementia"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0001288","hpo_term_name":"Gait disturbance"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0001300","hpo_term_name":"Parkinsonism"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0001332","hpo_term_name":"Dystonia"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0001337","hpo_term_name":"Tremor"}
{"disease_id":600116,"disease_name":"Parkinson disease, juvenile, type 2","hpo_term_id":"HP:0001347","hpo_term_name":"Hyperreflexia"}
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{"disease_id":601331,"disease_name":"{Renal dysplasia, cystic, susceptibility to}","hpo_term_id":"HP:0000110","hpo_term_name":"Renal dysplasia"}
{"disease_id":601331,"disease_name":"{Renal dysplasia, cystic, susceptibility to}","hpo_term_id":"HP:0000800","hpo_term_name":"Cystic renal dysplasia"}
{"disease_id":601331,"disease_name":"{Renal dysplasia, cystic, susceptibility to}","hpo_term_id":"HP:0004719","hpo_term_name":"Hyperechogenic kidneys"}
{"disease_id":601338,"disease_name":"CAPOS syndrome","hpo_term_id":"HP:0000407","hpo_term_name":"Sensorineural hearing impairment"}
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{"disease_id":601338,"disease_name":"CAPOS syndrome","hpo_term_id":"HP:0000572","hpo_term_name":"Visual loss"}
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{"disease_id":604173,"disease_name":"Poikiloderma with neutropenia","hpo_term_id":"HP:0025435","hpo_term_name":"Increased lactate dehydrogenase activity"}
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{"disease_id":604213,"disease_name":"Chudley-McCullough syndrome","hpo_term_id":"HP:0002700","hpo_term_name":"Large foramen magnum"}
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{"disease_id":604213,"disease_name":"Chudley-McCullough syndrome","hpo_term_id":"HP:0100702","hpo_term_name":"Arachnoid cyst"}
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{"disease_id":604219,"disease_name":"Cataract 9, multiple types","hpo_term_id":"HP:0007834","hpo_term_name":"Progressive cataract"}
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{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000327","hpo_term_name":"Hypoplasia of the maxilla"}
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{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000453","hpo_term_name":"Choanal atresia"}
{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000498","hpo_term_name":"Blepharitis"}
{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000535","hpo_term_name":"Sparse and thin eyebrow"}
{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000581","hpo_term_name":"Blepharophimosis"}
{"disease_id":604292,"disease_name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3","hpo_term_id":"HP:0000613","hpo_term_name":"Photophobia"}
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{"disease_id":604432,"disease_name":"Spinocerebellar ataxia 11","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
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{"disease_id":604805,"disease_name":"Spastic paraplegia 12, autosomal dominant","hpo_term_id":"HP:0011449","hpo_term_name":"Knee clonus"}
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{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000193","hpo_term_name":"Bifid uvula"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000201","hpo_term_name":"Pierre-Robin sequence"}
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{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000407","hpo_term_name":"Sensorineural hearing impairment"}
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{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000501","hpo_term_name":"Glaucoma"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000518","hpo_term_name":"Cataract"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000541","hpo_term_name":"Retinal detachment"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0000545","hpo_term_name":"Myopia"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0001166","hpo_term_name":"Arachnodactyly"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0001382","hpo_term_name":"Joint hypermobility"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0002655","hpo_term_name":"Spondyloepiphyseal dysplasia"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0002705","hpo_term_name":"High, narrow palate"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0003040","hpo_term_name":"Arthropathy"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0004327","hpo_term_name":"Abnormal vitreous humor morphology"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0005280","hpo_term_name":"Depressed nasal bridge"}
{"disease_id":604841,"disease_name":"Stickler syndrome, type II","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
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{"disease_id":605711,"disease_name":"Multiple mitochondrial dysfunctions syndrome 1","hpo_term_id":"HP:0002878","hpo_term_name":"Respiratory failure"}
{"disease_id":605711,"disease_name":"Multiple mitochondrial dysfunctions syndrome 1","hpo_term_id":"HP:0003128","hpo_term_name":"Lactic acidosis"}
{"disease_id":605711,"disease_name":"Multiple mitochondrial dysfunctions syndrome 1","hpo_term_id":"HP:0008972","hpo_term_name":"Decreased activity of mitochondrial respiratory chain"}
{"disease_id":605711,"disease_name":"Multiple mitochondrial dysfunctions syndrome 1","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":605711,"disease_name":"Multiple mitochondrial dysfunctions syndrome 1","hpo_term_id":"HP:0025356","hpo_term_name":"Pschomotor retardation"}
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{"disease_id":605714,"disease_name":"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants","hpo_term_id":"HP:0004938","hpo_term_name":"Tortuous cerebral arteries"}
{"disease_id":605714,"disease_name":"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants","hpo_term_id":"HP:0004968","hpo_term_name":"Recurrent cerebral hemorrhage"}
{"disease_id":605714,"disease_name":"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants","hpo_term_id":"HP:0011695","hpo_term_name":"Cerebellar hemorrhage"}
{"disease_id":605714,"disease_name":"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants","hpo_term_id":"HP:0011970","hpo_term_name":"Cerebral amyloid angiopathy"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0000957","hpo_term_name":"Cafe-au-lait spot"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0001508","hpo_term_name":"Failure to thrive"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0001511","hpo_term_name":"Intrauterine growth retardation"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0002023","hpo_term_name":"Anal atresia"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0003221","hpo_term_name":"Chromosomal breakage induced by crosslinking agents"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0004808","hpo_term_name":"Acute myeloid leukemia"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0005528","hpo_term_name":"Bone marrow hypocellularity"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0006727","hpo_term_name":"T-cell acute lymphoblastic leukemias"}
{"disease_id":605724,"disease_name":"Fanconi anemia, complementation group D1","hpo_term_id":"HP:0009778","hpo_term_name":"Short thumb"}
{"disease_id":605751,"disease_name":"Seizures, benign familial infantile, 2","hpo_term_id":"HP:0002076","hpo_term_name":"Migraine"}
{"disease_id":605751,"disease_name":"Seizures, benign familial infantile, 2","hpo_term_id":"HP:0002197","hpo_term_name":"Generalized seizures"}
{"disease_id":605751,"disease_name":"Seizures, benign familial infantile, 2","hpo_term_id":"HP:0007359","hpo_term_name":"Focal seizures"}
{"disease_id":605751,"disease_name":"Seizures, benign familial infantile, 2","hpo_term_id":"HP:0012759","hpo_term_name":"Neurodevelopmental abnormality"}
{"disease_id":605809,"disease_name":"Myasthenic syndrome, congenital, 4A, slow-channel","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":605809,"disease_name":"Myasthenic syndrome, congenital, 4A, slow-channel","hpo_term_id":"HP:0000508","hpo_term_name":"Ptosis"}
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{"disease_id":607876,"disease_name":"Epilepsy, familial adult myoclonic, 2","hpo_term_id":"HP:0002069","hpo_term_name":"Generalized tonic-clonic seizures"}
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{"disease_id":607903,"disease_name":"Hypotrichosis 6","hpo_term_id":"HP:0007502","hpo_term_name":"Follicular hyperkeratosis"}
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{"disease_id":607903,"disease_name":"Hypotrichosis 6","hpo_term_id":"HP:0010783","hpo_term_name":"Erythema"}
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{"disease_id":607921,"disease_name":"Retinitis pigmentosa 30","hpo_term_id":"HP:0000648","hpo_term_name":"Optic atrophy"}
{"disease_id":607921,"disease_name":"Retinitis pigmentosa 30","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":607921,"disease_name":"Retinitis pigmentosa 30","hpo_term_id":"HP:0007737","hpo_term_name":"Bone spicule pigmentation of the retina"}
{"disease_id":607921,"disease_name":"Retinitis pigmentosa 30","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000046","hpo_term_name":"Scrotal hypoplasia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000047","hpo_term_name":"Hypospadias"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000048","hpo_term_name":"Bifid scrotum"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000054","hpo_term_name":"Micropenis"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000078","hpo_term_name":"Abnormality of the genital system"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000089","hpo_term_name":"Renal hypoplasia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000134","hpo_term_name":"Female hypogonadism"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000171","hpo_term_name":"Microglossia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000193","hpo_term_name":"Bifid uvula"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000248","hpo_term_name":"Brachycephaly"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000272","hpo_term_name":"Malar flattening"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000324","hpo_term_name":"Facial asymmetry"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000348","hpo_term_name":"High forehead"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000358","hpo_term_name":"Posteriorly rotated ears"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000365","hpo_term_name":"Hearing impairment"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000400","hpo_term_name":"Macrotia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000411","hpo_term_name":"Protruding ear"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000482","hpo_term_name":"Microcornea"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000528","hpo_term_name":"Anophthalmia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000545","hpo_term_name":"Myopia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000556","hpo_term_name":"Retinal dystrophy"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000568","hpo_term_name":"Microphthalmia"}
{"disease_id":607932,"disease_name":"Microphthalmia, syndromic 6","hpo_term_id":"HP:0000589","hpo_term_name":"Coloboma"}
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{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002179","hpo_term_name":"Opisthotonus"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002304","hpo_term_name":"Akinesia"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002344","hpo_term_name":"Progressive neurologic deterioration"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002375","hpo_term_name":"Hypokinesia"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0002804","hpo_term_name":"Arthrogryposis multiplex congenita"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0003196","hpo_term_name":"Short nose"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0004325","hpo_term_name":"Decreased body weight"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0005257","hpo_term_name":"Thoracic hypoplasia"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0005280","hpo_term_name":"Depressed nasal bridge"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0007479","hpo_term_name":"Congenital nonbullous ichthyosiform erythroderma"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0007549","hpo_term_name":"Desquamation of skin soon after birth"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0008064","hpo_term_name":"Ichthyosis"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0008551","hpo_term_name":"Microtia"}
{"disease_id":608013,"disease_name":"Gaucher disease, perinatal lethal","hpo_term_id":"HP:0010803","hpo_term_name":"Everted upper lip vermilion"}
{"disease_id":608022,"disease_name":"Diaphanospondylodysostosis","hpo_term_id":"HP:0000023","hpo_term_name":"Inguinal hernia"}
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{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0001371","hpo_term_name":"Flexion contracture"}
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{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0003236","hpo_term_name":"Elevated serum creatine phosphokinase"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0003325","hpo_term_name":"Limb-girdle muscle weakness"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0003458","hpo_term_name":"EMG: myopathic abnormalities"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0003797","hpo_term_name":"Limb-girdle muscle atrophy"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0006785","hpo_term_name":"Limb-girdle muscular dystrophy"}
{"disease_id":608099,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2D","hpo_term_id":"HP:0008981","hpo_term_name":"Calf muscle hypertrophy"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0000239","hpo_term_name":"Large fontanelles"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
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{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0000470","hpo_term_name":"Short neck"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0000821","hpo_term_name":"Hypothyroidism"}
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{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001396","hpo_term_name":"Cholestasis"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001410","hpo_term_name":"Decreased liver function"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001508","hpo_term_name":"Failure to thrive"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001511","hpo_term_name":"Intrauterine growth retardation"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001541","hpo_term_name":"Ascites"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001558","hpo_term_name":"Decreased fetal movement"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001562","hpo_term_name":"Oligohydramnios"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001627","hpo_term_name":"Abnormal heart morphology"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001643","hpo_term_name":"Patent ductus arteriosus"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001671","hpo_term_name":"Abnormal cardiac septum morphology"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0001873","hpo_term_name":"Thrombocytopenia"}
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{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0002243","hpo_term_name":"Protein-losing enteropathy"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0003073","hpo_term_name":"Hypoalbuminemia"}
{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0003160","hpo_term_name":"Abnormal isoelectric focusing of serum transferrin"}
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{"disease_id":608104,"disease_name":"Congenital disorder of glycosylation, type Ih","hpo_term_id":"HP:0012385","hpo_term_name":"Camptodactyly"}
{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0000666","hpo_term_name":"Horizontal nystagmus"}
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{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0001336","hpo_term_name":"Myoclonus"}
{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0001337","hpo_term_name":"Tremor"}
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{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0002356","hpo_term_name":"Writer's cramp"}
{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0007104","hpo_term_name":"Prolonged somatosensory evoked potentials"}
{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0007332","hpo_term_name":"Hemifacial seizures"}
{"disease_id":608105,"disease_name":"Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp","hpo_term_id":"HP:0007359","hpo_term_name":"Focal seizures"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0000031","hpo_term_name":"Epididymitis"}
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{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0002720","hpo_term_name":"IgA deficiency"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0002721","hpo_term_name":"Immunodeficiency"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0002959","hpo_term_name":"Impaired Ig class switch recombination"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0003496","hpo_term_name":"Increased IgM level"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0004315","hpo_term_name":"IgG deficiency"}
{"disease_id":608106,"disease_name":"Immunodeficiency with hyper-IgM, type 5","hpo_term_id":"HP:0200117","hpo_term_name":"Recurrent upper and lower respiratory tract infections"}
{"disease_id":608115,"disease_name":"Ovarian hyperstimulation syndrome","hpo_term_id":"HP:0000119","hpo_term_name":"Abnormality of the genitourinary system"}
{"disease_id":608115,"disease_name":"Ovarian hyperstimulation syndrome","hpo_term_id":"HP:0001541","hpo_term_name":"Ascites"}
{"disease_id":608115,"disease_name":"Ovarian hyperstimulation syndrome","hpo_term_id":"HP:0002018","hpo_term_name":"Nausea"}
{"disease_id":608115,"disease_name":"Ovarian hyperstimulation syndrome","hpo_term_id":"HP:0002027","hpo_term_name":"Abdominal pain"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0000512","hpo_term_name":"Abnormal electroretinogram"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0000533","hpo_term_name":"Chorioretinal atrophy"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0000580","hpo_term_name":"Pigmentary retinopathy"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0001133","hpo_term_name":"Constriction of peripheral visual field"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0007830","hpo_term_name":"Adult-onset night blindness"}
{"disease_id":608133,"disease_name":"Retinitis pigmentosa 7, digenic form","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0000551","hpo_term_name":"Abnormality of color vision"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0000613","hpo_term_name":"Photophobia"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0007401","hpo_term_name":"Macular atrophy"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0007677","hpo_term_name":"Vitelliform-like macular lesions"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0007754","hpo_term_name":"Macular dystrophy"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0011506","hpo_term_name":"Choroidal neovascularization"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0011510","hpo_term_name":"Drusen"}
{"disease_id":608161,"disease_name":"Macular dystrophy, vitelliform, 3","hpo_term_id":"HP:0012508","hpo_term_name":"Metamorphopsia"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0001440","hpo_term_name":"Metatarsal synostosis"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0001770","hpo_term_name":"Toe syndactyly"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0008368","hpo_term_name":"Tarsal synostosis"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0009701","hpo_term_name":"Metacarpal synostosis"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0009702","hpo_term_name":"Carpal synostosis"}
{"disease_id":608180,"disease_name":"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses","hpo_term_id":"HP:0010442","hpo_term_name":"Polydactyly"}
{"disease_id":608189,"disease_name":"Tropical calcific pancreatitis + {Fibrocalculous pancreatic diabetes, susceptibility to}","hpo_term_id":"HP:0002027","hpo_term_name":"Abdominal pain"}
{"disease_id":608189,"disease_name":"Tropical calcific pancreatitis + {Fibrocalculous pancreatic diabetes, susceptibility to}","hpo_term_id":"HP:0002894","hpo_term_name":"Neoplasm of the pancreas"}
{"disease_id":608189,"disease_name":"Tropical calcific pancreatitis + {Fibrocalculous pancreatic diabetes, susceptibility to}","hpo_term_id":"HP:0005213","hpo_term_name":"Pancreatic calcification"}
{"disease_id":608189,"disease_name":"Tropical calcific pancreatitis + {Fibrocalculous pancreatic diabetes, susceptibility to}","hpo_term_id":"HP:0006280","hpo_term_name":"Chronic pancreatitis"}
{"disease_id":608189,"disease_name":"Tropical calcific pancreatitis + {Fibrocalculous pancreatic diabetes, susceptibility to}","hpo_term_id":"HP:0008205","hpo_term_name":"Insulin-dependent but ketosis-resistant diabetes"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0000548","hpo_term_name":"Cone/cone-rod dystrophy"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0000551","hpo_term_name":"Abnormality of color vision"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0000608","hpo_term_name":"Macular degeneration"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0000613","hpo_term_name":"Photophobia"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":608194,"disease_name":"Cone-rod dystrophy 13","hpo_term_id":"HP:0007688","hpo_term_name":"Undetectable light- and dark-adapted electroretinogram"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0001058","hpo_term_name":"Poor wound healing"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0001972","hpo_term_name":"Macrocytic anemia"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0001974","hpo_term_name":"Leukocytosis"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0003203","hpo_term_name":"Negative nitroblue tetrazolium reduction test"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0005224","hpo_term_name":"Rectal abscess"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0005400","hpo_term_name":"Reduction of neutrophil motility"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0011897","hpo_term_name":"Neutrophilia"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0012618","hpo_term_name":"Urachal cyst"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0031545","hpo_term_name":"Abnormally low T cell receptor excision circle level"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0032434","hpo_term_name":"Delayed umbilical cord separation"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0032435","hpo_term_name":"Neonatal omphalitis"}
{"disease_id":608203,"disease_name":"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis","hpo_term_id":"HP:0040238","hpo_term_name":"Impaired neutrophil chemotaxis"}
{"disease_id":608224,"disease_name":"Deafness, autosomal dominant 41","hpo_term_id":"HP:0000360","hpo_term_name":"Tinnitus"}
{"disease_id":608224,"disease_name":"Deafness, autosomal dominant 41","hpo_term_id":"HP:0000365","hpo_term_name":"Hearing impairment"}
{"disease_id":608224,"disease_name":"Deafness, autosomal dominant 41","hpo_term_id":"HP:0000408","hpo_term_name":"Progressive sensorineural hearing impairment"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000219","hpo_term_name":"Thin upper lip vermilion"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000280","hpo_term_name":"Coarse facial features"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000286","hpo_term_name":"Epicanthus"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000319","hpo_term_name":"Smooth philtrum"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000343","hpo_term_name":"Long philtrum"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000358","hpo_term_name":"Posteriorly rotated ears"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000431","hpo_term_name":"Wide nasal bridge"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000582","hpo_term_name":"Upslanted palpebral fissure"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000613","hpo_term_name":"Photophobia"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000666","hpo_term_name":"Horizontal nystagmus"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000670","hpo_term_name":"Carious teeth"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0000704","hpo_term_name":"Periodontitis"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001022","hpo_term_name":"Albinism"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001107","hpo_term_name":"Ocular albinism"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001256","hpo_term_name":"Intellectual disability, mild"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001433","hpo_term_name":"Hepatosplenomegaly"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001744","hpo_term_name":"Splenomegaly"}
{"disease_id":608233,"disease_name":"Hermansky-Pudlak syndrome 2","hpo_term_id":"HP:0001873","hpo_term_name":"Thrombocytopenia"}
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{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0000543","hpo_term_name":"Optic disc pallor"}
{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0001133","hpo_term_name":"Constriction of peripheral visual field"}
{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0007688","hpo_term_name":"Undetectable light- and dark-adapted electroretinogram"}
{"disease_id":608380,"disease_name":"Retinitis pigmentosa 26","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
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{"disease_id":608389,"disease_name":"Branchiootic syndrome 3","hpo_term_id":"HP:0000407","hpo_term_name":"Sensorineural hearing impairment"}
{"disease_id":608389,"disease_name":"Branchiootic syndrome 3","hpo_term_id":"HP:0002710","hpo_term_name":"Commissural lip pit"}
{"disease_id":608389,"disease_name":"Branchiootic syndrome 3","hpo_term_id":"HP:0004467","hpo_term_name":"Preauricular pit"}
{"disease_id":608389,"disease_name":"Branchiootic syndrome 3","hpo_term_id":"HP:0007678","hpo_term_name":"Lacrimal duct stenosis"}
{"disease_id":608389,"disease_name":"Branchiootic syndrome 3","hpo_term_id":"HP:0009796","hpo_term_name":"Branchial cyst"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0001324","hpo_term_name":"Muscle weakness"}
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{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0003326","hpo_term_name":"Myalgia"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0003552","hpo_term_name":"Muscle stiffness"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0003712","hpo_term_name":"Skeletal muscle hypertrophy"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0005949","hpo_term_name":"Apneic episodes in infancy"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0010307","hpo_term_name":"Stridor"}
{"disease_id":608390,"disease_name":"Myotonia congenita, atypical, acetazolamide-responsive","hpo_term_id":"HP:0025425","hpo_term_name":"Laryngospasm"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0000456","hpo_term_name":"Bifid nasal tip"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0002342","hpo_term_name":"Intellectual disability, moderate"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0002472","hpo_term_name":"Small cerebral cortex"}
{"disease_id":608393,"disease_name":"Microcephaly 6, primary, autosomal recessive","hpo_term_id":"HP:0008551","hpo_term_name":"Microtia"}
{"disease_id":608404,"disease_name":"Platelet glycoprotein IV deficiency","hpo_term_id":"HP:0000818","hpo_term_name":"Abnormality of the endocrine system"}
{"disease_id":608404,"disease_name":"Platelet glycoprotein IV deficiency","hpo_term_id":"HP:0001873","hpo_term_name":"Thrombocytopenia"}
{"disease_id":608404,"disease_name":"Platelet glycoprotein IV deficiency","hpo_term_id":"HP:0001892","hpo_term_name":"Abnormal bleeding"}
{"disease_id":608404,"disease_name":"Platelet glycoprotein IV deficiency","hpo_term_id":"HP:0001902","hpo_term_name":"Giant platelets"}
{"disease_id":608404,"disease_name":"Platelet glycoprotein IV deficiency","hpo_term_id":"HP:0003010","hpo_term_name":"Prolonged bleeding time"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0000980","hpo_term_name":"Pallor"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0001371","hpo_term_name":"Flexion contracture"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0001939","hpo_term_name":"Abnormality of metabolism/homeostasis"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0002747","hpo_term_name":"Respiratory insufficiency due to muscle weakness"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0003306","hpo_term_name":"Spinal rigidity"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0003458","hpo_term_name":"EMG: myopathic abnormalities"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0003547","hpo_term_name":"Shoulder girdle muscle weakness"}
{"disease_id":608423,"disease_name":"Muscular dystrophy, limb-girdle, autosomal dominant 2","hpo_term_id":"HP:0003560","hpo_term_name":"Muscular dystrophy"}
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{"disease_id":608688,"disease_name":"AICA-ribosiduria due to ATIC deficiency","hpo_term_id":"HP:0000063","hpo_term_name":"Fused labia minora"}
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{"disease_id":609060,"disease_name":"Combined oxidative phosphorylation deficiency 1","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":609180,"disease_name":"Congenital disorder of glycosylation, type If","hpo_term_id":"HP:0003256","hpo_term_name":"Abnormality of the coagulation cascade"}
{"disease_id":609180,"disease_name":"Congenital disorder of glycosylation, type If","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":609180,"disease_name":"Congenital disorder of glycosylation, type If","hpo_term_id":"HP:0040189","hpo_term_name":"Scaling skin"}
{"disease_id":609192,"disease_name":"Loeys-Dietz syndrome 1","hpo_term_id":"HP:0000193","hpo_term_name":"Bifid uvula"}
{"disease_id":609192,"disease_name":"Loeys-Dietz syndrome 1","hpo_term_id":"HP:0000238","hpo_term_name":"Hydrocephalus"}
{"disease_id":609192,"disease_name":"Loeys-Dietz syndrome 1","hpo_term_id":"HP:0000272","hpo_term_name":"Malar flattening"}
{"disease_id":609192,"disease_name":"Loeys-Dietz syndrome 1","hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia"}
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{"disease_id":609637,"disease_name":"Holoprosencephaly 5","hpo_term_id":"HP:0006870","hpo_term_name":"Lobar holoprosencephaly"}
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{"disease_id":609638,"disease_name":"Epidermolysis bullosa, lethal acantholytic","hpo_term_id":"HP:0004057","hpo_term_name":"Mitten deformity"}
{"disease_id":609638,"disease_name":"Epidermolysis bullosa, lethal acantholytic","hpo_term_id":"HP:0008094","hpo_term_name":"Widely spaced toes"}
{"disease_id":609638,"disease_name":"Epidermolysis bullosa, lethal acantholytic","hpo_term_id":"HP:0009884","hpo_term_name":"Tapered distal phalanges of finger"}
{"disease_id":609638,"disease_name":"Epidermolysis bullosa, lethal acantholytic","hpo_term_id":"HP:0100792","hpo_term_name":"Acantholysis"}
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{"disease_id":610006,"disease_name":"2-methylbutyrylglycinuria","hpo_term_id":"HP:0005949","hpo_term_name":"Apneic episodes in infancy"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0000233","hpo_term_name":"Thin vermilion border"}
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{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0001298","hpo_term_name":"Encephalopathy"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0001371","hpo_term_name":"Flexion contracture"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0001662","hpo_term_name":"Bradycardia"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0001987","hpo_term_name":"Hyperammonemia"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
{"disease_id":610015,"disease_name":"Glutamine deficiency, congenital","hpo_term_id":"HP:0002104","hpo_term_name":"Apnea"}
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{"disease_id":610505,"disease_name":"Combined oxidative phosphorylation deficiency 3","hpo_term_id":"HP:0005157","hpo_term_name":"Concentric hypertrophic cardiomyopathy"}
{"disease_id":610505,"disease_name":"Combined oxidative phosphorylation deficiency 3","hpo_term_id":"HP:0008347","hpo_term_name":"Decreased activity of mitochondrial complex IV"}
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{"disease_id":610505,"disease_name":"Combined oxidative phosphorylation deficiency 3","hpo_term_id":"HP:0011923","hpo_term_name":"Decreased activity of mitochondrial complex I"}
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{"disease_id":610532,"disease_name":"Leukodystrophy, hypomyelinating, 5","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
{"disease_id":610532,"disease_name":"Leukodystrophy, hypomyelinating, 5","hpo_term_id":"HP:0003383","hpo_term_name":"Onion bulb formation"}
{"disease_id":610532,"disease_name":"Leukodystrophy, hypomyelinating, 5","hpo_term_id":"HP:0003431","hpo_term_name":"Decreased motor nerve conduction velocity"}
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{"disease_id":610532,"disease_name":"Leukodystrophy, hypomyelinating, 5","hpo_term_id":"HP:0030147","hpo_term_name":"Truncal titubation"}
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{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0000506","hpo_term_name":"Telecanthus"}
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{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0001177","hpo_term_name":"Preaxial hand polydactyly"}
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{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0001629","hpo_term_name":"Ventricular septal defect"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0002002","hpo_term_name":"Deep philtrum"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0002032","hpo_term_name":"Esophageal atresia"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0002098","hpo_term_name":"Respiratory distress"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0003196","hpo_term_name":"Short nose"}
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{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0008872","hpo_term_name":"Feeding difficulties in infancy"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0009623","hpo_term_name":"Proximal placement of thumb"}
{"disease_id":610536,"disease_name":"Mandibulofacial dysostosis, Guion-Almeida type","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
{"disease_id":610539,"disease_name":"Gaucher disease, atypical","hpo_term_id":"HP:0000938","hpo_term_name":"Osteopenia"}
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{"disease_id":610539,"disease_name":"Gaucher disease, atypical","hpo_term_id":"HP:0001903","hpo_term_name":"Anemia"}
{"disease_id":610539,"disease_name":"Gaucher disease, atypical","hpo_term_id":"HP:0004975","hpo_term_name":"Erlenmeyer flask deformity of the femurs"}
{"disease_id":610539,"disease_name":"Gaucher disease, atypical","hpo_term_id":"HP:0011813","hpo_term_name":"Increased cerebral lipofuscin"}
{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0000467","hpo_term_name":"Neck muscle weakness"}
{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0000508","hpo_term_name":"Ptosis"}
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{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0003388","hpo_term_name":"Easy fatigability"}
{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0003391","hpo_term_name":"Gowers sign"}
{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0003394","hpo_term_name":"Muscle cramps"}
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{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0008180","hpo_term_name":"Mildly elevated creatine phosphokinase"}
{"disease_id":610542,"disease_name":"Myasthenia, congenital, 12, with tubular aggregates","hpo_term_id":"HP:0010628","hpo_term_name":"Facial palsy"}
{"disease_id":610582,"disease_name":"Diabetes mellitus, transient neonatal 3","hpo_term_id":"HP:0003074","hpo_term_name":"Hyperglycemia"}
{"disease_id":610582,"disease_name":"Diabetes mellitus, transient neonatal 3","hpo_term_id":"HP:0008255","hpo_term_name":"Transient neonatal diabetes mellitus"}
{"disease_id":610582,"disease_name":"Diabetes mellitus, transient neonatal 3","hpo_term_id":"HP:0009800","hpo_term_name":"Maternal diabetes"}
{"disease_id":610582,"disease_name":"Diabetes mellitus, transient neonatal 3","hpo_term_id":"HP:0040217","hpo_term_name":"Elevated hemoglobin A1c"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0000543","hpo_term_name":"Optic disc pallor"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0000550","hpo_term_name":"Undetectable electroretinogram"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0000608","hpo_term_name":"Macular degeneration"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0007737","hpo_term_name":"Bone spicule pigmentation of the retina"}
{"disease_id":610599,"disease_name":"Retinitis pigmentosa 36","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0000127","hpo_term_name":"Renal salt wasting"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0000848","hpo_term_name":"Increased circulating renin level"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0001278","hpo_term_name":"Orthostatic hypotension"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0001508","hpo_term_name":"Failure to thrive"}
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{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0001944","hpo_term_name":"Dehydration"}
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{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0004319","hpo_term_name":"Decreased circulating aldosterone level"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0020200","hpo_term_name":"Increased circulating 18-hydroxycortisone level"}
{"disease_id":610600,"disease_name":"Hypoaldosteronism, congenital, due to CMO II deficiency","hpo_term_id":"HP:0032362","hpo_term_name":"Increased circulating corticosterone level"}
{"disease_id":610612,"disease_name":"Leber congenital amaurosis 12","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
{"disease_id":610612,"disease_name":"Leber congenital amaurosis 12","hpo_term_id":"HP:0007875","hpo_term_name":"Congenital blindness"}
{"disease_id":610612,"disease_name":"Leber congenital amaurosis 12","hpo_term_id":"HP:0008002","hpo_term_name":"Abnormality of macular pigmentation"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0000282","hpo_term_name":"Facial edema"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0002013","hpo_term_name":"Vomiting"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0002574","hpo_term_name":"Episodic abdominal pain"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0005225","hpo_term_name":"Intestinal edema"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0011855","hpo_term_name":"Pharyngeal edema"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0012271","hpo_term_name":"Episodic upper airway obstruction"}
{"disease_id":610618,"disease_name":"Angioedema, hereditary, 3","hpo_term_id":"HP:0100665","hpo_term_name":"Angioedema"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0000518","hpo_term_name":"Cataract"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0000568","hpo_term_name":"Microphthalmia"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0000618","hpo_term_name":"Blindness"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0001276","hpo_term_name":"Hypertonia"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0001315","hpo_term_name":"Reduced tendon reflexes"}
{"disease_id":610623,"disease_name":"Cataract 11, multiple types","hpo_term_id":"HP:0002072","hpo_term_name":"Chorea"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000044","hpo_term_name":"Hypogonadotrophic hypogonadism"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000054","hpo_term_name":"Micropenis"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000458","hpo_term_name":"Anosmia"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000786","hpo_term_name":"Primary amenorrhea"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000819","hpo_term_name":"Diabetes mellitus"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0000939","hpo_term_name":"Osteoporosis"}
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{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0001513","hpo_term_name":"Obesity"}
{"disease_id":610628,"disease_name":"Hypogonadotropic hypogonadism 4","hpo_term_id":"HP:0008734","hpo_term_name":"Decreased testicular size"}
{"disease_id":610629,"disease_name":"Diamond-Blackfan anemia 3","hpo_term_id":"HP:0000465","hpo_term_name":"Webbed neck"}
{"disease_id":610629,"disease_name":"Diamond-Blackfan anemia 3","hpo_term_id":"HP:0001896","hpo_term_name":"Reticulocytopenia"}
{"disease_id":610629,"disease_name":"Diamond-Blackfan anemia 3","hpo_term_id":"HP:0001972","hpo_term_name":"Macrocytic anemia"}
{"disease_id":610629,"disease_name":"Diamond-Blackfan anemia 3","hpo_term_id":"HP:0005518","hpo_term_name":"Increased mean corpuscular volume"}
{"disease_id":610629,"disease_name":"Diamond-Blackfan anemia 3","hpo_term_id":"HP:0011904","hpo_term_name":"Persistence of hemoglobin F"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0000047","hpo_term_name":"Hypospadias"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0000062","hpo_term_name":"Ambiguous genitalia"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0000771","hpo_term_name":"Gynecomastia"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0000982","hpo_term_name":"Palmoplantar keratoderma"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0001792","hpo_term_name":"Small nail"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0002155","hpo_term_name":"Hypertriglyceridemia"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0003124","hpo_term_name":"Hypercholesterolemia"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0003241","hpo_term_name":"External genital hypoplasia"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0006357","hpo_term_name":"Premature loss of permanent teeth"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0007410","hpo_term_name":"Palmoplantar hyperhidrosis"}
{"disease_id":610644,"disease_name":"Palmoplantar hyperkeratosis and true hermaphroditism + Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal","hpo_term_id":"HP:0008404","hpo_term_name":"Nail dystrophy"}
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{"disease_id":610725,"disease_name":"Nephrotic syndrome, type 3","hpo_term_id":"HP:0000097","hpo_term_name":"Focal segmental glomerulosclerosis"}
{"disease_id":610725,"disease_name":"Nephrotic syndrome, type 3","hpo_term_id":"HP:0000100","hpo_term_name":"Nephrotic syndrome"}
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{"disease_id":610725,"disease_name":"Nephrotic syndrome, type 3","hpo_term_id":"HP:0001967","hpo_term_name":"Diffuse mesangial sclerosis"}
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{"disease_id":610921,"disease_name":"Surfactant metabolism dysfunction, pulmonary, 3","hpo_term_id":"HP:0001508","hpo_term_name":"Failure to thrive"}
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{"disease_id":611283,"disease_name":"Isobutyryl-CoA dehydrogenase deficiency","hpo_term_id":"HP:0001252","hpo_term_name":"Muscular hypotonia"}
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{"disease_id":611283,"disease_name":"Isobutyryl-CoA dehydrogenase deficiency","hpo_term_id":"HP:0003234","hpo_term_name":"Decreased plasma carnitine"}
{"disease_id":611302,"disease_name":"Spastic ataxia 2, AR","hpo_term_id":"HP:0000666","hpo_term_name":"Horizontal nystagmus"}
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{"disease_id":611307,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2L","hpo_term_id":"HP:0003236","hpo_term_name":"Elevated serum creatine phosphokinase"}
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{"disease_id":611363,"disease_name":"Atrial septal defect 4","hpo_term_id":"HP:0001680","hpo_term_name":"Coarctation of aorta"}
{"disease_id":611369,"disease_name":"Lethal congenital contracture syndrome 3","hpo_term_id":"HP:0002093","hpo_term_name":"Respiratory insufficiency"}
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{"disease_id":611383,"disease_name":"Usher syndrome, type 2D","hpo_term_id":"HP:0000365","hpo_term_name":"Hearing impairment"}
{"disease_id":611383,"disease_name":"Usher syndrome, type 2D","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
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{"disease_id":611383,"disease_name":"Usher syndrome, type 2D","hpo_term_id":"HP:0001751","hpo_term_name":"Vestibular dysfunction"}
{"disease_id":611390,"disease_name":"Spastic ataxia 3, AR","hpo_term_id":"HP:0000012","hpo_term_name":"Urinary urgency"}
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{"disease_id":611391,"disease_name":"Cataract 33, multiple types","hpo_term_id":"HP:0007971","hpo_term_name":"Lamellar cataract"}
{"disease_id":611391,"disease_name":"Cataract 33, multiple types","hpo_term_id":"HP:0100018","hpo_term_name":"Nuclear cataract"}
{"disease_id":611391,"disease_name":"Cataract 33, multiple types","hpo_term_id":"HP:0100019","hpo_term_name":"Cortical cataract"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000256","hpo_term_name":"Macrocephaly"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000286","hpo_term_name":"Epicanthus"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000325","hpo_term_name":"Triangular face"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000368","hpo_term_name":"Low-set, posteriorly rotated ears"}
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{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000494","hpo_term_name":"Downslanted palpebral fissures"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000508","hpo_term_name":"Ptosis"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000766","hpo_term_name":"Abnormality of the sternum"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000957","hpo_term_name":"Cafe-au-lait spot"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0000997","hpo_term_name":"Axillary freckling"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0001012","hpo_term_name":"Multiple lipomas"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0001067","hpo_term_name":"Neurofibromas"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0001252","hpo_term_name":"Muscular hypotonia"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0001328","hpo_term_name":"Specific learning disability"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0002162","hpo_term_name":"Low posterior hairline"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0002705","hpo_term_name":"High, narrow palate"}
{"disease_id":611431,"disease_name":"Legius syndrome","hpo_term_id":"HP:0007018","hpo_term_name":"Attention deficit hyperactivity disorder"}
{"disease_id":611489,"disease_name":"Corticosteroid-binding globulin deficiency","hpo_term_id":"HP:0000822","hpo_term_name":"Hypertension"}
{"disease_id":611489,"disease_name":"Corticosteroid-binding globulin deficiency","hpo_term_id":"HP:0001939","hpo_term_name":"Abnormality of metabolism/homeostasis"}
{"disease_id":611489,"disease_name":"Corticosteroid-binding globulin deficiency","hpo_term_id":"HP:0002615","hpo_term_name":"Hypotension"}
{"disease_id":611489,"disease_name":"Corticosteroid-binding globulin deficiency","hpo_term_id":"HP:0003750","hpo_term_name":"Increased muscle fatiguability"}
{"disease_id":611489,"disease_name":"Corticosteroid-binding globulin deficiency","hpo_term_id":"HP:0012378","hpo_term_name":"Fatigue"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0000543","hpo_term_name":"Optic disc pallor"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0000648","hpo_term_name":"Optic atrophy"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0000967","hpo_term_name":"Petechiae"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001433","hpo_term_name":"Hepatosplenomegaly"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001510","hpo_term_name":"Growth delay"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001744","hpo_term_name":"Splenomegaly"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001873","hpo_term_name":"Thrombocytopenia"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001903","hpo_term_name":"Anemia"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0001923","hpo_term_name":"Reticulocytosis"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0002757","hpo_term_name":"Recurrent fractures"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0004576","hpo_term_name":"Sclerotic vertebral endplates"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0010628","hpo_term_name":"Facial palsy"}
{"disease_id":611490,"disease_name":"Osteopetrosis, autosomal recessive 4","hpo_term_id":"HP:0011002","hpo_term_name":"Osteopetrosis"}
{"disease_id":611493,"disease_name":"Atrial fibrilation, familial, 4","hpo_term_id":"HP:0001962","hpo_term_name":"Palpitations"}
{"disease_id":611493,"disease_name":"Atrial fibrilation, familial, 4","hpo_term_id":"HP:0004754","hpo_term_name":"Permanent atrial fibrillation"}
{"disease_id":611493,"disease_name":"Atrial fibrilation, familial, 4","hpo_term_id":"HP:0004757","hpo_term_name":"Paroxysmal atrial fibrillation"}
{"disease_id":611493,"disease_name":"Atrial fibrilation, familial, 4","hpo_term_id":"HP:0005110","hpo_term_name":"Atrial fibrillation"}
{"disease_id":611493,"disease_name":"Atrial fibrilation, familial, 4","hpo_term_id":"HP:0006699","hpo_term_name":"Premature atrial contractions"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0002721","hpo_term_name":"Immunodeficiency"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0002841","hpo_term_name":"Recurrent fungal infections"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0003212","hpo_term_name":"Increased IgE level"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0004429","hpo_term_name":"Recurrent viral infections"}
{"disease_id":611521,"disease_name":"Immunodeficiency 35","hpo_term_id":"HP:0011274","hpo_term_name":"Recurrent mycobacterial infections"}
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{"disease_id":612132,"disease_name":"Ectodermal dysplasia and immunodeficiency 2","hpo_term_id":"HP:0007476","hpo_term_name":"Anhidrotic ectodermal dysplasia"}
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{"disease_id":612240,"disease_name":"Atrial fibrilation, familial, 7","hpo_term_id":"HP:0012248","hpo_term_name":"Prolonged PR interval"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000238","hpo_term_name":"Hydrocephalus"}
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{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000453","hpo_term_name":"Choanal atresia"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000520","hpo_term_name":"Proptosis"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000956","hpo_term_name":"Acanthosis nigricans"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0000995","hpo_term_name":"Melanocytic nevus"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0001363","hpo_term_name":"Craniosynostosis"}
{"disease_id":612247,"disease_name":"Crouzon syndrome with acanthosis nigricans","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
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{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0003095","hpo_term_name":"Septic arthritis"}
{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0005403","hpo_term_name":"Decrease in T cell count"}
{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0006946","hpo_term_name":"Recurrent meningitis"}
{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0010976","hpo_term_name":"B lymphocytopenia"}
{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0025615","hpo_term_name":"Abscess"}
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{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0040089","hpo_term_name":"Abnormal natural killer cell count"}
{"disease_id":612260,"disease_name":"Immunodeficiency 68","hpo_term_id":"HP:0100806","hpo_term_name":"Sepsis"}
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{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0000966","hpo_term_name":"Hypohidrosis"}
{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0000982","hpo_term_name":"Palmoplantar keratoderma"}
{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0001019","hpo_term_name":"Erythroderma"}
{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0001036","hpo_term_name":"Parakeratosis"}
{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0007479","hpo_term_name":"Congenital nonbullous ichthyosiform erythroderma"}
{"disease_id":612281,"disease_name":"Ichthyosis, congenital, autosomal recessive 6","hpo_term_id":"HP:0025092","hpo_term_name":"Epidermal acanthosis"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0000107","hpo_term_name":"Renal cyst"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0000204","hpo_term_name":"Cleft upper lip"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0000238","hpo_term_name":"Hydrocephalus"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0000812","hpo_term_name":"Abnormal internal genitalia"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0001161","hpo_term_name":"Hand polydactyly"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0001162","hpo_term_name":"Postaxial hand polydactyly"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0001395","hpo_term_name":"Hepatic fibrosis"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0001408","hpo_term_name":"Bile duct proliferation"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0002085","hpo_term_name":"Occipital encephalocele"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0002089","hpo_term_name":"Pulmonary hypoplasia"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0002323","hpo_term_name":"Anencephaly"}
{"disease_id":612284,"disease_name":"Meckel syndrome 6","hpo_term_id":"HP:0006706","hpo_term_name":"Cystic liver disease"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0000483","hpo_term_name":"Astigmatism"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0000518","hpo_term_name":"Cataract"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0002119","hpo_term_name":"Ventriculomegaly"}
{"disease_id":612285,"disease_name":"Joubert syndrome 9","hpo_term_id":"HP:0002419","hpo_term_name":"Molar tooth sign on MRI"}
{"disease_id":612286,"disease_name":"Nephrolithiasis/osteoporosis, hypophosphatemic, 1","hpo_term_id":"HP:0000117","hpo_term_name":"Renal phosphate wasting"}
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{"disease_id":613095,"disease_name":"Polycystic kidney disease 2","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
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{"disease_id":613101,"disease_name":"Hemophagocytic lymphohistiocytosis, familial, 5","hpo_term_id":"HP:0012177","hpo_term_name":"Abnormal natural killer cell physiology"}
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{"disease_id":613118,"disease_name":"Thrombophilia due to antithrombin III deficiency","hpo_term_id":"HP:0001976","hpo_term_name":"Reduced antithrombin III activity"}
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{"disease_id":613118,"disease_name":"Thrombophilia due to antithrombin III deficiency","hpo_term_id":"HP:0025324","hpo_term_name":"Arterial occlusion"}
{"disease_id":613123,"disease_name":"Brugada syndrome 8","hpo_term_id":"HP:0004756","hpo_term_name":"Ventricular tachycardia"}
{"disease_id":613123,"disease_name":"Brugada syndrome 8","hpo_term_id":"HP:0011712","hpo_term_name":"Right bundle branch block"}
{"disease_id":613123,"disease_name":"Brugada syndrome 8","hpo_term_id":"HP:0012251","hpo_term_name":"ST segment elevation"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
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{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0002194","hpo_term_name":"Delayed gross motor development"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0002451","hpo_term_name":"Limb dystonia"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0002487","hpo_term_name":"Hyperkinesis"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0007256","hpo_term_name":"Abnormal pyramidal signs"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0008936","hpo_term_name":"Muscular hypotonia of the trunk"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0031931","hpo_term_name":"Ocular flutter"}
{"disease_id":613135,"disease_name":"Parkinsonism-dystonia, infantile, 1","hpo_term_id":"HP:0100660","hpo_term_name":"Dyskinesia"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0000155","hpo_term_name":"Oral ulcer"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0000999","hpo_term_name":"Pyoderma"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0001510","hpo_term_name":"Growth delay"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0002573","hpo_term_name":"Hematochezia"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0002583","hpo_term_name":"Colitis"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0004387","hpo_term_name":"Enterocolitis"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0009789","hpo_term_name":"Perianal abscess"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0025084","hpo_term_name":"Folliculitis"}
{"disease_id":613148,"disease_name":"Inflammatory bowel disease 28, early onset, autosomal recessive","hpo_term_id":"HP:0100280","hpo_term_name":"Crohn's disease"}
{"disease_id":613150,"disease_name":"Muscular dystrophy-dystroglycanopathy, type A, 2","hpo_term_id":"HP:0000158","hpo_term_name":"Macroglossia"}
{"disease_id":613150,"disease_name":"Muscular dystrophy-dystroglycanopathy, type A, 2","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":613150,"disease_name":"Muscular dystrophy-dystroglycanopathy, type A, 2","hpo_term_id":"HP:0000204","hpo_term_name":"Cleft upper lip"}
{"disease_id":613150,"disease_name":"Muscular dystrophy-dystroglycanopathy, type A, 2","hpo_term_id":"HP:0000238","hpo_term_name":"Hydrocephalus"}
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{"disease_id":613193,"disease_name":"Ciliary dyskinesia, primary, 13","hpo_term_id":"HP:0000246","hpo_term_name":"Sinusitis"}
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{"disease_id":613194,"disease_name":"Retinitis pigmentosa 50","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
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{"disease_id":613194,"disease_name":"Retinitis pigmentosa 50","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
{"disease_id":613194,"disease_name":"Retinitis pigmentosa 50","hpo_term_id":"HP:0012045","hpo_term_name":"Retinal flecks"}
{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0000501","hpo_term_name":"Glaucoma"}
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{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0001156","hpo_term_name":"Brachydactyly"}
{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0007906","hpo_term_name":"Increased intraocular pressure"}
{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0012629","hpo_term_name":"Phakodonesis"}
{"disease_id":613195,"disease_name":"Weill-Marchesani 4 syndrome, recessive","hpo_term_id":"HP:0100693","hpo_term_name":"Iridodonesis"}
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{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0003236","hpo_term_name":"Elevated serum creatine phosphokinase"}
{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0003557","hpo_term_name":"Increased variability in muscle fiber diameter"}
{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0003741","hpo_term_name":"Congenital muscular dystrophy"}
{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0008947","hpo_term_name":"Infantile muscular hypotonia"}
{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0012548","hpo_term_name":"Fatty replacement of skeletal muscle"}
{"disease_id":613204,"disease_name":"Muscular dystrophy, congenital, due to ITGA7 deficiency","hpo_term_id":"HP:0100543","hpo_term_name":"Cognitive impairment"}
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{"disease_id":613205,"disease_name":"Muscular dystrophy, congenital","hpo_term_id":"HP:0001883","hpo_term_name":"Talipes"}
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{"disease_id":613205,"disease_name":"Muscular dystrophy, congenital","hpo_term_id":"HP:0003306","hpo_term_name":"Spinal rigidity"}
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{"disease_id":613211,"disease_name":"Amelogenesis imperfecta, type IIA3","hpo_term_id":"HP:0000705","hpo_term_name":"Amelogenesis imperfecta"}
{"disease_id":613211,"disease_name":"Amelogenesis imperfecta, type IIA3","hpo_term_id":"HP:0006285","hpo_term_name":"Hypomineralization of enamel"}
{"disease_id":613211,"disease_name":"Amelogenesis imperfecta, type IIA3","hpo_term_id":"HP:0011085","hpo_term_name":"Hypomature dental enamel"}
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{"disease_id":613216,"disease_name":"Night blindness, congenital stationary (complete), 1C, autosomal recessive","hpo_term_id":"HP:0000545","hpo_term_name":"Myopia"}
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{"disease_id":613216,"disease_name":"Night blindness, congenital stationary (complete), 1C, autosomal recessive","hpo_term_id":"HP:0000958","hpo_term_name":"Dry skin"}
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{"disease_id":613216,"disease_name":"Night blindness, congenital stationary (complete), 1C, autosomal recessive","hpo_term_id":"HP:0007642","hpo_term_name":"Congenital stationary night blindness"}
{"disease_id":613216,"disease_name":"Night blindness, congenital stationary (complete), 1C, autosomal recessive","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":613217,"disease_name":"Diarrhea 5, with tufting enteropathy, congenital","hpo_term_id":"HP:0001369","hpo_term_name":"Arthritis"}
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{"disease_id":613217,"disease_name":"Diarrhea 5, with tufting enteropathy, congenital","hpo_term_id":"HP:0001518","hpo_term_name":"Small for gestational age"}
{"disease_id":613217,"disease_name":"Diarrhea 5, with tufting enteropathy, congenital","hpo_term_id":"HP:0002041","hpo_term_name":"Intractable diarrhea"}
{"disease_id":613217,"disease_name":"Diarrhea 5, with tufting enteropathy, congenital","hpo_term_id":"HP:0011473","hpo_term_name":"Villous atrophy"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000256","hpo_term_name":"Macrocephaly"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000286","hpo_term_name":"Epicanthus"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000348","hpo_term_name":"High forehead"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000407","hpo_term_name":"Sensorineural hearing impairment"}
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{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000465","hpo_term_name":"Webbed neck"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000494","hpo_term_name":"Downslanted palpebral fissures"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000545","hpo_term_name":"Myopia"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000750","hpo_term_name":"Delayed speech and language development"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000767","hpo_term_name":"Pectus excavatum"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000957","hpo_term_name":"Cafe-au-lait spot"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0000969","hpo_term_name":"Edema"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001195","hpo_term_name":"Single umbilical artery"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001561","hpo_term_name":"Polyhydramnios"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001639","hpo_term_name":"Hypertrophic cardiomyopathy"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0001642","hpo_term_name":"Pulmonic stenosis"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0002212","hpo_term_name":"Curly hair"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0004523","hpo_term_name":"Long eyebrows"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0005280","hpo_term_name":"Depressed nasal bridge"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0008070","hpo_term_name":"Sparse hair"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0012209","hpo_term_name":"Juvenile myelomonocytic leukemia"}
{"disease_id":613224,"disease_name":"Noonan syndrome 6","hpo_term_id":"HP:0032152","hpo_term_name":"Keratosis pilaris"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0000421","hpo_term_name":"Epistaxis"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0000978","hpo_term_name":"Bruising susceptibility"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0001892","hpo_term_name":"Abnormal bleeding"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0002170","hpo_term_name":"Intracranial hemorrhage"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0005261","hpo_term_name":"Joint hemorrhage"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0007420","hpo_term_name":"Spontaneous hematomas"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0008357","hpo_term_name":"Reduced factor XIII activity"}
{"disease_id":613225,"disease_name":"Factor XIIIA deficiency","hpo_term_id":"HP:0031364","hpo_term_name":"Ecchymosis"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0001251","hpo_term_name":"Ataxia"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0001256","hpo_term_name":"Intellectual disability, mild"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0001260","hpo_term_name":"Dysarthria"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0001337","hpo_term_name":"Tremor"}
{"disease_id":613227,"disease_name":"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3","hpo_term_id":"HP:0001350","hpo_term_name":"Slurred speech"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0000978","hpo_term_name":"Bruising susceptibility"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0001892","hpo_term_name":"Abnormal bleeding"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0004846","hpo_term_name":"Prolonged bleeding after surgery"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0008357","hpo_term_name":"Reduced factor XIII activity"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0011884","hpo_term_name":"Abnormal umbilical stump bleeding"}
{"disease_id":613235,"disease_name":"Factor XIIIB deficiency","hpo_term_id":"HP:0031364","hpo_term_name":"Ecchymosis"}
{"disease_id":613237,"disease_name":"Glomerulosclerosis, focal segmental 5","hpo_term_id":"HP:0000093","hpo_term_name":"Proteinuria"}
{"disease_id":613237,"disease_name":"Glomerulosclerosis, focal segmental 5","hpo_term_id":"HP:0000097","hpo_term_name":"Focal segmental glomerulosclerosis"}
{"disease_id":613237,"disease_name":"Glomerulosclerosis, focal segmental 5","hpo_term_id":"HP:0000822","hpo_term_name":"Hypertension"}
{"disease_id":613237,"disease_name":"Glomerulosclerosis, focal segmental 5","hpo_term_id":"HP:0002907","hpo_term_name":"Microscopic hematuria"}
{"disease_id":613237,"disease_name":"Glomerulosclerosis, focal segmental 5","hpo_term_id":"HP:0003774","hpo_term_name":"Stage 5 chronic kidney disease"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0000836","hpo_term_name":"Hyperthyroidism"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0000853","hpo_term_name":"Goiter"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0001324","hpo_term_name":"Muscle weakness"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0001649","hpo_term_name":"Tachycardia"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0001824","hpo_term_name":"Weight loss"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0001962","hpo_term_name":"Palpitations"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0002900","hpo_term_name":"Hypokalemia"}
{"disease_id":613239,"disease_name":"{Thyrotoxic periodic paralysis, susceptibility to, 2}","hpo_term_id":"HP:0003768","hpo_term_name":"Periodic paralysis"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0001279","hpo_term_name":"Syncope"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0001639","hpo_term_name":"Hypertrophic cardiomyopathy"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0001663","hpo_term_name":"Ventricular fibrillation"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0002094","hpo_term_name":"Dyspnea"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0005110","hpo_term_name":"Atrial fibrillation"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0011711","hpo_term_name":"Left anterior fascicular block"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0011712","hpo_term_name":"Right bundle branch block"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0012250","hpo_term_name":"ST segment depression"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0100749","hpo_term_name":"Chest pain"}
{"disease_id":613243,"disease_name":"Cardiomyopathy, familial hypertrophic 13","hpo_term_id":"HP:0200128","hpo_term_name":"Biventricular hypertrophy"}
{"disease_id":613254,"disease_name":"Tuberous sclerosis-2 + {TSC2 angiomyolipomas, renal, modifier of}","hpo_term_id":"HP:0000107","hpo_term_name":"Renal cyst"}
{"disease_id":613254,"disease_name":"Tuberous sclerosis-2 + {TSC2 angiomyolipomas, renal, modifier of}","hpo_term_id":"HP:0000169","hpo_term_name":"Gingival fibromatosis"}
{"disease_id":613254,"disease_name":"Tuberous sclerosis-2 + {TSC2 angiomyolipomas, renal, modifier of}","hpo_term_id":"HP:0000717","hpo_term_name":"Autism"}
{"disease_id":613254,"disease_name":"Tuberous sclerosis-2 + {TSC2 angiomyolipomas, renal, modifier of}","hpo_term_id":"HP:0000821","hpo_term_name":"Hypothyroidism"}
{"disease_id":613254,"disease_name":"Tuberous sclerosis-2 + {TSC2 angiomyolipomas, renal, modifier of}","hpo_term_id":"HP:0000826","hpo_term_name":"Precocious puberty"}
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{"disease_id":613312,"disease_name":"Hypophosphatemic rickets, autosomal recessive, 2","hpo_term_id":"HP:0012408","hpo_term_name":"Medullary nephrocalcinosis"}
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{"disease_id":613313,"disease_name":"Hemochromatosis, type 2B","hpo_term_id":"HP:0001744","hpo_term_name":"Splenomegaly"}
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{"disease_id":613313,"disease_name":"Hemochromatosis, type 2B","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
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{"disease_id":613313,"disease_name":"Hemochromatosis, type 2B","hpo_term_id":"HP:0003452","hpo_term_name":"Increased serum iron"}
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{"disease_id":613546,"disease_name":"Aromatase deficiency","hpo_term_id":"HP:0010458","hpo_term_name":"Female pseudohermaphroditism"}
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{"disease_id":613550,"disease_name":"Nephronophthisis 11","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":613550,"disease_name":"Nephronophthisis 11","hpo_term_id":"HP:0001395","hpo_term_name":"Hepatic fibrosis"}
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{"disease_id":613707,"disease_name":"LEOPARD syndrome 3","hpo_term_id":"HP:0001636","hpo_term_name":"Tetralogy of Fallot"}
{"disease_id":613707,"disease_name":"LEOPARD syndrome 3","hpo_term_id":"HP:0001646","hpo_term_name":"Abnormal aortic valve morphology"}
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{"disease_id":613707,"disease_name":"LEOPARD syndrome 3","hpo_term_id":"HP:0006610","hpo_term_name":"Clinodactyly of the 5th finger"}
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{"disease_id":613707,"disease_name":"LEOPARD syndrome 3","hpo_term_id":"HP:0030939","hpo_term_name":"Palpebral thickening"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0001347","hpo_term_name":"Hyperreflexia"}
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{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0002754","hpo_term_name":"Osteomyelitis"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0002936","hpo_term_name":"Distal sensory impairment"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0003401","hpo_term_name":"Paresthesia"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0003477","hpo_term_name":"Peripheral axonal neuropathy"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0008404","hpo_term_name":"Nail dystrophy"}
{"disease_id":613708,"disease_name":"Neuropathy, hereditary sensory, type ID","hpo_term_id":"HP:0009830","hpo_term_name":"Peripheral neuropathy"}
{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0001254","hpo_term_name":"Lethargy"}
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{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0001760","hpo_term_name":"Abnormality of the foot"}
{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
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{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0002490","hpo_term_name":"Increased CSF lactate"}
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{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0003477","hpo_term_name":"Peripheral axonal neuropathy"}
{"disease_id":613710,"disease_name":"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)","hpo_term_id":"HP:0005750","hpo_term_name":"Contractures of the joints of the lower limbs"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000405","hpo_term_name":"Conductive hearing impairment"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000452","hpo_term_name":"Choanal stenosis"}
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{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000494","hpo_term_name":"Downslanted palpebral fissures"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0000589","hpo_term_name":"Coloboma"}
{"disease_id":613717,"disease_name":"Treacher Collins syndrome 2","hpo_term_id":"HP:0008551","hpo_term_name":"Microtia"}
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{"disease_id":613720,"disease_name":"Developmental and epileptic encephalopathy 7","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
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{"disease_id":613721,"disease_name":"Developmental and epileptic encephalopathy 11","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":613721,"disease_name":"Developmental and epileptic encephalopathy 11","hpo_term_id":"HP:0002069","hpo_term_name":"Generalized tonic-clonic seizures"}
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{"disease_id":613722,"disease_name":"Developmental and epileptic encephalopathy 12","hpo_term_id":"HP:0001257","hpo_term_name":"Spasticity"}
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{"disease_id":613723,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2Q","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
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{"disease_id":613723,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2Q","hpo_term_id":"HP:0003202","hpo_term_name":"Skeletal muscle atrophy"}
{"disease_id":613723,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2Q","hpo_term_id":"HP:0003236","hpo_term_name":"Elevated serum creatine phosphokinase"}
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{"disease_id":613723,"disease_name":"Muscular dystrophy, limb-girdle, TYPE 2Q","hpo_term_id":"HP:0003551","hpo_term_name":"Difficulty climbing stairs"}
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{"disease_id":613728,"disease_name":"Spinocerebellar ataxia, autosomal recessive 10","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
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{"disease_id":613728,"disease_name":"Spinocerebellar ataxia, autosomal recessive 10","hpo_term_id":"HP:0002380","hpo_term_name":"Fasciculations"}
{"disease_id":613728,"disease_name":"Spinocerebellar ataxia, autosomal recessive 10","hpo_term_id":"HP:0007338","hpo_term_name":"Hypermetric saccades"}
{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
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{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0000800","hpo_term_name":"Cystic renal dysplasia"}
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{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0001321","hpo_term_name":"Cerebellar hypoplasia"}
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{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0002119","hpo_term_name":"Ventriculomegaly"}
{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
{"disease_id":613730,"disease_name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts","hpo_term_id":"HP:0005484","hpo_term_name":"Postnatal microcephaly"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000512","hpo_term_name":"Abnormal electroretinogram"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000518","hpo_term_name":"Cataract"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000580","hpo_term_name":"Pigmentary retinopathy"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000618","hpo_term_name":"Blindness"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":613731,"disease_name":"Retinitis pigmentosa 4","hpo_term_id":"HP:0001123","hpo_term_name":"Visual field defect"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000023","hpo_term_name":"Inguinal hernia"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000076","hpo_term_name":"Vesicoureteral reflux"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000089","hpo_term_name":"Renal hypoplasia"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000126","hpo_term_name":"Hydronephrosis"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000160","hpo_term_name":"Narrow mouth"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000219","hpo_term_name":"Thin upper lip vermilion"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000256","hpo_term_name":"Macrocephaly"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000283","hpo_term_name":"Broad face"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000331","hpo_term_name":"Short chin"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000337","hpo_term_name":"Broad forehead"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000463","hpo_term_name":"Anteverted nares"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0000965","hpo_term_name":"Cutis marmorata"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001252","hpo_term_name":"Muscular hypotonia"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001274","hpo_term_name":"Agenesis of corpus callosum"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0002119","hpo_term_name":"Ventriculomegaly"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0003196","hpo_term_name":"Short nose"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0003396","hpo_term_name":"Syringomyelia"}
{"disease_id":613735,"disease_name":"Brain malformations with or without urinary tract defects","hpo_term_id":"HP:0100543","hpo_term_name":"Cognitive impairment"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0002860","hpo_term_name":"Squamous cell carcinoma"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0007502","hpo_term_name":"Follicular hyperkeratosis"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0011132","hpo_term_name":"Chronic furunculosis"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0012322","hpo_term_name":"Perifolliculitis"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0040154","hpo_term_name":"Acne inversa"}
{"disease_id":613736,"disease_name":"Acne inversa, familial, 2, with or without Dowling-Degos disease","hpo_term_id":"HP:0100838","hpo_term_name":"Recurrent cutaneous abscess formation"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0000127","hpo_term_name":"Renal salt wasting"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0000846","hpo_term_name":"Adrenal insufficiency"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0000859","hpo_term_name":"Hyperaldosteronism"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0000953","hpo_term_name":"Hyperpigmentation of the skin"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0011749","hpo_term_name":"Adrenocorticotropic hormone excess"}
{"disease_id":613743,"disease_name":"Adrenal insufficiency, congenital, with 46XY sex reversal\\","hpo_term_id":"HP:0012245","hpo_term_name":"Sex reversal"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000154","hpo_term_name":"Wide mouth"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000275","hpo_term_name":"Narrow face"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000280","hpo_term_name":"Coarse facial features"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000297","hpo_term_name":"Facial hypotonia"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000307","hpo_term_name":"Pointed chin"}
{"disease_id":613744,"disease_name":"Spastic paraplegia 51","hpo_term_id":"HP:0000322","hpo_term_name":"Short philtrum"}
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{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0005086","hpo_term_name":"Knee osteoarthritis"}
{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0005110","hpo_term_name":"Atrial fibrillation"}
{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0005112","hpo_term_name":"Abdominal aortic aneurysm"}
{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0005116","hpo_term_name":"Arterial tortuosity"}
{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0006687","hpo_term_name":"Aortic tortuosity"}
{"disease_id":613795,"disease_name":"Loeys-Dietz syndrome 3","hpo_term_id":"HP:0008419","hpo_term_name":"Intervertebral disc degeneration"}
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{"disease_id":613838,"disease_name":"Cardiomyopathy, familial hypertrophic 16","hpo_term_id":"HP:0011713","hpo_term_name":"Left bundle branch block"}
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{"disease_id":613843,"disease_name":"Leber congenital amaurosis 15","hpo_term_id":"HP:0030211","hpo_term_name":"Slow pupillary light response"}
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{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0001882","hpo_term_name":"Leukopenia"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0001903","hpo_term_name":"Anemia"}
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{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0002902","hpo_term_name":"Hyponatremia"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0002917","hpo_term_name":"Hypomagnesemia"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0003554","hpo_term_name":"Type 2 muscle fiber atrophy"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0004719","hpo_term_name":"Hyperechogenic kidneys"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0005977","hpo_term_name":"Hypochloremic metabolic alkalosis"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":613845,"disease_name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","hpo_term_id":"HP:0012622","hpo_term_name":"Chronic kidney disease"}
{"disease_id":613848,"disease_name":"Osteogenesis imperfecta X","hpo_term_id":"HP:0000023","hpo_term_name":"Inguinal hernia"}
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{"disease_id":614175,"disease_name":"Joubert syndrome 34 / ?Meckel syndrome 10","hpo_term_id":"HP:0100259","hpo_term_name":"Postaxial polydactyly"}
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{"disease_id":614180,"disease_name":"Retinitis pigmentosa 61","hpo_term_id":"HP:0007688","hpo_term_name":"Undetectable light- and dark-adapted electroretinogram"}
{"disease_id":614180,"disease_name":"Retinitis pigmentosa 61","hpo_term_id":"HP:0007737","hpo_term_name":"Bone spicule pigmentation of the retina"}
{"disease_id":614180,"disease_name":"Retinitis pigmentosa 61","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
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{"disease_id":614181,"disease_name":"Retinitis pigmentosa 62","hpo_term_id":"HP:0001123","hpo_term_name":"Visual field defect"}
{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0000219","hpo_term_name":"Thin upper lip vermilion"}
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{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0000319","hpo_term_name":"Smooth philtrum"}
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{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001072","hpo_term_name":"Thickened skin"}
{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001376","hpo_term_name":"Limitation of joint mobility"}
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{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001634","hpo_term_name":"Mitral valve prolapse"}
{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001650","hpo_term_name":"Aortic valve stenosis"}
{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001653","hpo_term_name":"Mitral regurgitation"}
{"disease_id":614185,"disease_name":"Geleophysic dysplasia 2","hpo_term_id":"HP:0001718","hpo_term_name":"Mitral stenosis"}
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{"disease_id":614300,"disease_name":"Hypermethioninemia due to adenosine kinase deficiency","hpo_term_id":"HP:0001396","hpo_term_name":"Cholestasis"}
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{"disease_id":614300,"disease_name":"Hypermethioninemia due to adenosine kinase deficiency","hpo_term_id":"HP:0001410","hpo_term_name":"Decreased liver function"}
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{"disease_id":614300,"disease_name":"Hypermethioninemia due to adenosine kinase deficiency","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
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{"disease_id":614340,"disease_name":"Mental retardation, autosomal recessive 27","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
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{"disease_id":614370,"disease_name":"Surfactant metabolism dysfunction, pulmonary, 5","hpo_term_id":"HP:0030879","hpo_term_name":"Interlobular septal thickening on pulmonary HRCT"}
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{"disease_id":614372,"disease_name":"{Chronic infections, due to MBL deficiency}","hpo_term_id":"HP:0002742","hpo_term_name":"Recurrent Klebsiella infections"}
{"disease_id":614372,"disease_name":"{Chronic infections, due to MBL deficiency}","hpo_term_id":"HP:0005353","hpo_term_name":"Susceptibility to herpesvirus"}
{"disease_id":614372,"disease_name":"{Chronic infections, due to MBL deficiency}","hpo_term_id":"HP:0005381","hpo_term_name":"Recurrent meningococcal disease"}
{"disease_id":614372,"disease_name":"{Chronic infections, due to MBL deficiency}","hpo_term_id":"HP:0031699","hpo_term_name":"Disseminated cryptosporidium infection"}
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{"disease_id":614373,"disease_name":"Amyotrophic lateral sclerosis 16","hpo_term_id":"HP:0002127","hpo_term_name":"Abnormal upper motor neuron morphology"}
{"disease_id":614373,"disease_name":"Amyotrophic lateral sclerosis 16","hpo_term_id":"HP:0002366","hpo_term_name":"Abnormal lower motor neuron morphology"}
{"disease_id":614373,"disease_name":"Amyotrophic lateral sclerosis 16","hpo_term_id":"HP:0003690","hpo_term_name":"Limb muscle weakness"}
{"disease_id":614373,"disease_name":"Amyotrophic lateral sclerosis 16","hpo_term_id":"HP:0007354","hpo_term_name":"Amyotrophic lateral sclerosis"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0000089","hpo_term_name":"Renal hypoplasia"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0000090","hpo_term_name":"Nephronophthisis"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0000556","hpo_term_name":"Retinal dystrophy"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0001407","hpo_term_name":"Hepatic cysts"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0001737","hpo_term_name":"Pancreatic cysts"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0003774","hpo_term_name":"Stage 5 chronic kidney disease"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0010442","hpo_term_name":"Polydactyly"}
{"disease_id":614377,"disease_name":"Nephronophthisis 13","hpo_term_id":"HP:0012595","hpo_term_name":"Mild proteinuria"}
{"disease_id":614380,"disease_name":"C4a deficiency","hpo_term_id":"HP:0000099","hpo_term_name":"Glomerulonephritis"}
{"disease_id":614380,"disease_name":"C4a deficiency","hpo_term_id":"HP:0000979","hpo_term_name":"Purpura"}
{"disease_id":614380,"disease_name":"C4a deficiency","hpo_term_id":"HP:0000992","hpo_term_name":"Cutaneous photosensitivity"}
{"disease_id":614380,"disease_name":"C4a deficiency","hpo_term_id":"HP:0002633","hpo_term_name":"Vasculitis"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0000426","hpo_term_name":"Prominent nasal bridge"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0000568","hpo_term_name":"Microphthalmia"}
{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0000589","hpo_term_name":"Coloboma"}
{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0000639","hpo_term_name":"Nystagmus"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0001251","hpo_term_name":"Ataxia"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0002084","hpo_term_name":"Encephalocele"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0010864","hpo_term_name":"Intellectual disability, severe"}
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{"disease_id":614424,"disease_name":"Joubert syndrome 14","hpo_term_id":"HP:0100259","hpo_term_name":"Postaxial polydactyly"}
{"disease_id":614429,"disease_name":"Ventricular septal defect 1","hpo_term_id":"HP:0001629","hpo_term_name":"Ventricular septal defect"}
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{"disease_id":614429,"disease_name":"Ventricular septal defect 1","hpo_term_id":"HP:0001642","hpo_term_name":"Pulmonic stenosis"}
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{"disease_id":614432,"disease_name":"Ventricular septal defect 3","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
{"disease_id":614432,"disease_name":"Ventricular septal defect 3","hpo_term_id":"HP:0001643","hpo_term_name":"Patent ductus arteriosus"}
{"disease_id":614432,"disease_name":"Ventricular septal defect 3","hpo_term_id":"HP:0004415","hpo_term_name":"Pulmonary artery stenosis"}
{"disease_id":614435,"disease_name":"Hypoplastic left heart syndrome 2","hpo_term_id":"HP:0001629","hpo_term_name":"Ventricular septal defect"}
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{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0001274","hpo_term_name":"Agenesis of corpus callosum"}
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{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
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{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0002342","hpo_term_name":"Intellectual disability, moderate"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0002353","hpo_term_name":"EEG abnormality"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0002465","hpo_term_name":"Poor speech"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0003502","hpo_term_name":"Mild short stature"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0004325","hpo_term_name":"Decreased body weight"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0006989","hpo_term_name":"Dysplastic corpus callosum"}
{"disease_id":614833,"disease_name":"Microcephaly, short stature, and polymicrogyria with seizures","hpo_term_id":"HP:0007256","hpo_term_name":"Abnormal pyramidal signs"}
{"disease_id":614837,"disease_name":"Hypogonadotropic hypogonadism 8","hpo_term_id":"HP:0000013","hpo_term_name":"Hypoplasia of the uterus"}
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{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0000973","hpo_term_name":"Cutis laxa"}
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{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001363","hpo_term_name":"Craniosynostosis"}
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{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001537","hpo_term_name":"Umbilical hernia"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001631","hpo_term_name":"Atrial septal defect"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001643","hpo_term_name":"Patent ductus arteriosus"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001651","hpo_term_name":"Dextrocardia"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001669","hpo_term_name":"Transposition of the great arteries"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0002007","hpo_term_name":"Frontal bossing"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0002553","hpo_term_name":"Highly arched eyebrow"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0002557","hpo_term_name":"Hypoplastic nipples"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0002558","hpo_term_name":"Supernumerary nipple"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0002812","hpo_term_name":"Coxa vara"}
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{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0006610","hpo_term_name":"Clinodactyly of the 5th finger"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0009933","hpo_term_name":"Narrow naris"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0010239","hpo_term_name":"Aplasia of the middle phalanx of the hand"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0010554","hpo_term_name":"Cutaneous finger syndactyly"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0011304","hpo_term_name":"Broad thumb"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0011800","hpo_term_name":"Midface retrusion"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0012385","hpo_term_name":"Camptodactyly"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0100258","hpo_term_name":"Preaxial polydactyly"}
{"disease_id":614976,"disease_name":"Carpenter syndrome 2","hpo_term_id":"HP:0100259","hpo_term_name":"Postaxial polydactyly"}
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{"disease_id":615071,"disease_name":"Alazami syndrome","hpo_term_id":"HP:0000154","hpo_term_name":"Wide mouth"}
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{"disease_id":615207,"disease_name":"Immunodeficiency 56","hpo_term_id":"HP:0200124","hpo_term_name":"Chronic hepatitis due to cryptosporidium infection"}
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{"disease_id":615297,"disease_name":"Adams-Oliver syndrome 4","hpo_term_id":"HP:0000965","hpo_term_name":"Cutis marmorata"}
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{"disease_id":615300,"disease_name":"Perrault syndrome 4","hpo_term_id":"HP:0000013","hpo_term_name":"Hypoplasia of the uterus"}
{"disease_id":615300,"disease_name":"Perrault syndrome 4","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
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{"disease_id":615300,"disease_name":"Perrault syndrome 4","hpo_term_id":"HP:0000786","hpo_term_name":"Primary amenorrhea"}
{"disease_id":615300,"disease_name":"Perrault syndrome 4","hpo_term_id":"HP:0000813","hpo_term_name":"Bicornuate uterus"}
{"disease_id":615300,"disease_name":"Perrault syndrome 4","hpo_term_id":"HP:0000837","hpo_term_name":"Increased circulating gonadotropin level"}
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{"disease_id":615412,"disease_name":"Cortical dysplasia, complex, with other brain malformations 4","hpo_term_id":"HP:0002539","hpo_term_name":"Cortical dysplasia"}
{"disease_id":615412,"disease_name":"Cortical dysplasia, complex, with other brain malformations 4","hpo_term_id":"HP:0031882","hpo_term_name":"Agyria"}
{"disease_id":615412,"disease_name":"Cortical dysplasia, complex, with other brain malformations 4","hpo_term_id":"HP:0032409","hpo_term_name":"Subcortical band heterotopia"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0000105","hpo_term_name":"Enlarged kidney"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0000800","hpo_term_name":"Cystic renal dysplasia"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001395","hpo_term_name":"Hepatic fibrosis"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001396","hpo_term_name":"Cholestasis"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001562","hpo_term_name":"Oligohydramnios"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001639","hpo_term_name":"Hypertrophic cardiomyopathy"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001642","hpo_term_name":"Pulmonic stenosis"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001650","hpo_term_name":"Aortic valve stenosis"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001660","hpo_term_name":"Truncus arteriosus"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001746","hpo_term_name":"Asplenia"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0001762","hpo_term_name":"Talipes equinovarus"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0002089","hpo_term_name":"Pulmonary hypoplasia"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0002240","hpo_term_name":"Hepatomegaly"}
{"disease_id":615415,"disease_name":"Renal-hepatic-pancreatic dysplasia 2","hpo_term_id":"HP:0002980","hpo_term_name":"Femoral bowing"}
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{"disease_id":615418,"disease_name":"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR","hpo_term_id":"HP:0001513","hpo_term_name":"Obesity"}
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{"disease_id":615418,"disease_name":"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR","hpo_term_id":"HP:0003202","hpo_term_name":"Skeletal muscle atrophy"}
{"disease_id":615418,"disease_name":"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR","hpo_term_id":"HP:0003326","hpo_term_name":"Myalgia"}
{"disease_id":615418,"disease_name":"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR","hpo_term_id":"HP:0003546","hpo_term_name":"Exercise intolerance"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000219","hpo_term_name":"Thin upper lip vermilion"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000248","hpo_term_name":"Brachycephaly"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000319","hpo_term_name":"Smooth philtrum"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000325","hpo_term_name":"Triangular face"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000400","hpo_term_name":"Macrotia"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000768","hpo_term_name":"Pectus carinatum"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0000817","hpo_term_name":"Poor eye contact"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0002019","hpo_term_name":"Constipation"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0002020","hpo_term_name":"Gastroesophageal reflux"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0002465","hpo_term_name":"Poor speech"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0003196","hpo_term_name":"Short nose"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0003431","hpo_term_name":"Decreased motor nerve conduction velocity"}
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{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0011220","hpo_term_name":"Prominent forehead"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":615419,"disease_name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1","hpo_term_id":"HP:0025356","hpo_term_name":"Pschomotor retardation"}
{"disease_id":615420,"disease_name":"Myopia 22, autosomal dominant","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
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{"disease_id":615420,"disease_name":"Myopia 22, autosomal dominant","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":615426,"disease_name":"Amyotrophic lateral sclerosis 20","hpo_term_id":"HP:0003155","hpo_term_name":"Elevated alkaline phosphatase"}
{"disease_id":615426,"disease_name":"Amyotrophic lateral sclerosis 20","hpo_term_id":"HP:0003560","hpo_term_name":"Muscular dystrophy"}
{"disease_id":615426,"disease_name":"Amyotrophic lateral sclerosis 20","hpo_term_id":"HP:0003805","hpo_term_name":"Rimmed vacuoles"}
{"disease_id":615426,"disease_name":"Amyotrophic lateral sclerosis 20","hpo_term_id":"HP:0007354","hpo_term_name":"Amyotrophic lateral sclerosis"}
{"disease_id":615426,"disease_name":"Amyotrophic lateral sclerosis 20","hpo_term_id":"HP:0100299","hpo_term_name":"Muscle fiber inclusion bodies"}
{"disease_id":615431,"disease_name":"Myopia 23, autosomal dominant","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
{"disease_id":615431,"disease_name":"Myopia 23, autosomal dominant","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":615431,"disease_name":"Myopia 23, autosomal dominant","hpo_term_id":"HP:0007800","hpo_term_name":"Increased axial length of the globe"}
{"disease_id":615431,"disease_name":"Myopia 23, autosomal dominant","hpo_term_id":"HP:0011003","hpo_term_name":"High myopia"}
{"disease_id":615432,"disease_name":"{Specific language impairment 5}","hpo_term_id":"HP:0000729","hpo_term_name":"Autistic behavior"}
{"disease_id":615432,"disease_name":"{Specific language impairment 5}","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615432,"disease_name":"{Specific language impairment 5}","hpo_term_id":"HP:0002463","hpo_term_name":"Language impairment"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0000543","hpo_term_name":"Optic disc pallor"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0007401","hpo_term_name":"Macular atrophy"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity"}
{"disease_id":615434,"disease_name":"Retinitis pigmentosa with or without situs inversus","hpo_term_id":"HP:0007787","hpo_term_name":"Posterior subcapsular cataract"}
{"disease_id":615436,"disease_name":"Aortic aneurysm, familial thoracic 8","hpo_term_id":"HP:0005112","hpo_term_name":"Abdominal aortic aneurysm"}
{"disease_id":615436,"disease_name":"Aortic aneurysm, familial thoracic 8","hpo_term_id":"HP:0006702","hpo_term_name":"Coronary artery dissection"}
{"disease_id":615436,"disease_name":"Aortic aneurysm, familial thoracic 8","hpo_term_id":"HP:0030882","hpo_term_name":"Coronary artery aneurysm"}
{"disease_id":615439,"disease_name":"{Macular degeneration, age-related, 13, susceptibility to}","hpo_term_id":"HP:0000529","hpo_term_name":"Progressive visual loss"}
{"disease_id":615439,"disease_name":"{Macular degeneration, age-related, 13, susceptibility to}","hpo_term_id":"HP:0000608","hpo_term_name":"Macular degeneration"}
{"disease_id":615439,"disease_name":"{Macular degeneration, age-related, 13, susceptibility to}","hpo_term_id":"HP:0011506","hpo_term_name":"Choroidal neovascularization"}
{"disease_id":615439,"disease_name":"{Macular degeneration, age-related, 13, susceptibility to}","hpo_term_id":"HP:0011510","hpo_term_name":"Drusen"}
{"disease_id":615439,"disease_name":"{Macular degeneration, age-related, 13, susceptibility to}","hpo_term_id":"HP:0200056","hpo_term_name":"Macular scar"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0000365","hpo_term_name":"Hearing impairment"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001252","hpo_term_name":"Muscular hypotonia"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001508","hpo_term_name":"Failure to thrive"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001510","hpo_term_name":"Growth delay"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001635","hpo_term_name":"Congestive heart failure"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0001639","hpo_term_name":"Hypertrophic cardiomyopathy"}
{"disease_id":615440,"disease_name":"Combined oxidative phosphorylation deficiency 17","hpo_term_id":"HP:0003128","hpo_term_name":"Lactic acidosis"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0001279","hpo_term_name":"Syncope"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0001657","hpo_term_name":"Prolonged QT interval"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0001695","hpo_term_name":"Cardiac arrest"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0003701","hpo_term_name":"Proximal muscle weakness"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0006682","hpo_term_name":"Ventricular extrasystoles"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0031273","hpo_term_name":"Shock"}
{"disease_id":615441,"disease_name":"Ventricular tachycardia, catecholaminergic polymorphic, 5","hpo_term_id":"HP:0031677","hpo_term_name":"Polymorphic ventricular tachycardia"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0000246","hpo_term_name":"Sinusitis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0000789","hpo_term_name":"Infertility"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0002110","hpo_term_name":"Bronchiectasis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0004469","hpo_term_name":"Chronic bronchitis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0011108","hpo_term_name":"Recurrent sinusitis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0012207","hpo_term_name":"Reduced sperm motility"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0012259","hpo_term_name":"Absent inner and outer dynein arms"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0012265","hpo_term_name":"Ciliary dyskinesia"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0012384","hpo_term_name":"Rhinitis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0100582","hpo_term_name":"Nasal polyposis"}
{"disease_id":615444,"disease_name":"Ciliary dyskinesia, primary, 22","hpo_term_id":"HP:0200073","hpo_term_name":"Respiratory insufficiency due to defective ciliary clearance"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0002110","hpo_term_name":"Bronchiectasis"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0004469","hpo_term_name":"Chronic bronchitis"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0011108","hpo_term_name":"Recurrent sinusitis"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0012265","hpo_term_name":"Ciliary dyskinesia"}
{"disease_id":615451,"disease_name":"Ciliary dyskinesia, primary, 23","hpo_term_id":"HP:0200073","hpo_term_name":"Respiratory insufficiency due to defective ciliary clearance"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0001298","hpo_term_name":"Encephalopathy"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0001987","hpo_term_name":"Hyperammonemia"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0001993","hpo_term_name":"Ketoacidosis"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0002151","hpo_term_name":"Increased serum lactate"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0002910","hpo_term_name":"Elevated hepatic transaminases"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0003128","hpo_term_name":"Lactic acidosis"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0005974","hpo_term_name":"Episodic ketoacidosis"}
{"disease_id":615453,"disease_name":"Mitochondrial complex III deficiency, nuclear type 6","hpo_term_id":"HP:0006554","hpo_term_name":"Acute hepatic failure"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0000358","hpo_term_name":"Posteriorly rotated ears"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0000445","hpo_term_name":"Wide nose"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0000455","hpo_term_name":"Broad nasal tip"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0000482","hpo_term_name":"Microcornea"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0000506","hpo_term_name":"Telecanthus"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0007787","hpo_term_name":"Posterior subcapsular cataract"}
{"disease_id":615458,"disease_name":"Microcornea, myopic chorioretinal atrophy, and telecanthus","hpo_term_id":"HP:0200065","hpo_term_name":"Chorioretinal degeneration"}
{"disease_id":615465,"disease_name":"Hartsfield syndrome","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":615465,"disease_name":"Hartsfield syndrome","hpo_term_id":"HP:0000047","hpo_term_name":"Hypospadias"}
{"disease_id":615465,"disease_name":"Hartsfield syndrome","hpo_term_id":"HP:0000054","hpo_term_name":"Micropenis"}
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{"disease_id":615506,"disease_name":"Telangiectasia, hereditary hemorrhagic, type 5","hpo_term_id":"HP:0001009","hpo_term_name":"Telangiectasia"}
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{"disease_id":615506,"disease_name":"Telangiectasia, hereditary hemorrhagic, type 5","hpo_term_id":"HP:0002910","hpo_term_name":"Elevated hepatic transaminases"}
{"disease_id":615506,"disease_name":"Telangiectasia, hereditary hemorrhagic, type 5","hpo_term_id":"HP:0004406","hpo_term_name":"Spontaneous, recurrent epistaxis"}
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{"disease_id":615511,"disease_name":"Myopathy due to myoadenylate deaminase deficiency","hpo_term_id":"HP:0001252","hpo_term_name":"Muscular hypotonia"}
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{"disease_id":615512,"disease_name":"Hemolytic anemia due to triosephosphate isomerase deficiency","hpo_term_id":"HP:0009830","hpo_term_name":"Peripheral neuropathy"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0001744","hpo_term_name":"Splenomegaly"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0002110","hpo_term_name":"Bronchiectasis"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0002716","hpo_term_name":"Lymphadenopathy"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0002721","hpo_term_name":"Immunodeficiency"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0003496","hpo_term_name":"Increased IgM level"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0005403","hpo_term_name":"Decrease in T cell count"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0005425","hpo_term_name":"Recurrent sinopulmonary infections"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0008348","hpo_term_name":"Immunoglobulin IgG2 deficiency"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0012476","hpo_term_name":"Specific pneumococcal antibody deficiency"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0030381","hpo_term_name":"Increased proportion of transitional B cells"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0030388","hpo_term_name":"Decreased proportion of class-switched memory B cells"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0100658","hpo_term_name":"Cellulitis"}
{"disease_id":615513,"disease_name":"Immunodeficiency 14A, autosomal dominant","hpo_term_id":"HP:0410018","hpo_term_name":"Recurrent ear infections"}
{"disease_id":615515,"disease_name":"Amyotrophic lateral sclerosis 19","hpo_term_id":"HP:0002747","hpo_term_name":"Respiratory insufficiency due to muscle weakness"}
{"disease_id":615515,"disease_name":"Amyotrophic lateral sclerosis 19","hpo_term_id":"HP:0006957","hpo_term_name":"Loss of ability to walk"}
{"disease_id":615515,"disease_name":"Amyotrophic lateral sclerosis 19","hpo_term_id":"HP:0007354","hpo_term_name":"Amyotrophic lateral sclerosis"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000189","hpo_term_name":"Narrow palate"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000303","hpo_term_name":"Mandibular prognathia"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000635","hpo_term_name":"Blue irides"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000718","hpo_term_name":"Aggressive behavior"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000729","hpo_term_name":"Autistic behavior"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000742","hpo_term_name":"Self-mutilation"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000750","hpo_term_name":"Delayed speech and language development"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0000752","hpo_term_name":"Hyperactivity"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001319","hpo_term_name":"Neonatal hypotonia"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001357","hpo_term_name":"Plagiocephaly"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0001852","hpo_term_name":"Sandal gap"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0002317","hpo_term_name":"Unsteady gait"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0002373","hpo_term_name":"Febrile seizures"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0010529","hpo_term_name":"Echolalia"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0031936","hpo_term_name":"Delayed ability to walk"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0031987","hpo_term_name":"Diminished ability to concentrate"}
{"disease_id":615516,"disease_name":"Mental retardation, autosomal recessive 38","hpo_term_id":"HP:0100023","hpo_term_name":"Recurrent hand flapping"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0000164","hpo_term_name":"Abnormality of the dentition"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0000962","hpo_term_name":"Hyperkeratosis"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0000982","hpo_term_name":"Palmoplantar keratoderma"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0001595","hpo_term_name":"Abnormality of the hair"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0001597","hpo_term_name":"Abnormality of the nail"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0025092","hpo_term_name":"Epidermal acanthosis"}
{"disease_id":615522,"disease_name":"Cole disease","hpo_term_id":"HP:0025114","hpo_term_name":"Hypergranulosis"}
{"disease_id":615524,"disease_name":"Microphthalmia, syndromic 12","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":615524,"disease_name":"Microphthalmia, syndromic 12","hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia"}
{"disease_id":615524,"disease_name":"Microphthalmia, syndromic 12","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":615524,"disease_name":"Microphthalmia, syndromic 12","hpo_term_id":"HP:0000431","hpo_term_name":"Wide nasal bridge"}
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{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0001260","hpo_term_name":"Dysarthria"}
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{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0001272","hpo_term_name":"Cerebellar atrophy"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0002066","hpo_term_name":"Gait ataxia"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0002317","hpo_term_name":"Unsteady gait"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0002395","hpo_term_name":"Lower limb hyperreflexia"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0002600","hpo_term_name":"Hyporeflexia of lower limbs"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0012391","hpo_term_name":"Hyporeflexia of upper limbs"}
{"disease_id":615705,"disease_name":"Spinocerebellar ataxia, autosomal recessive 15","hpo_term_id":"HP:0031936","hpo_term_name":"Delayed ability to walk"}
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{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0000193","hpo_term_name":"Bifid uvula"}
{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia"}
{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0000293","hpo_term_name":"Full cheeks"}
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{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0000402","hpo_term_name":"Stenosis of the external auditory canal"}
{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0008513","hpo_term_name":"Bilateral conductive hearing impairment"}
{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0008751","hpo_term_name":"Laryngeal cleft"}
{"disease_id":615706,"disease_name":"Auriculocondylar syndrome 3","hpo_term_id":"HP:0030022","hpo_term_name":"Question mark ear"}
{"disease_id":615707,"disease_name":"Immunodeficiency 20","hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media"}
{"disease_id":615707,"disease_name":"Immunodeficiency 20","hpo_term_id":"HP:0002205","hpo_term_name":"Recurrent respiratory infections"}
{"disease_id":615707,"disease_name":"Immunodeficiency 20","hpo_term_id":"HP:0002721","hpo_term_name":"Immunodeficiency"}
{"disease_id":615707,"disease_name":"Immunodeficiency 20","hpo_term_id":"HP:0011108","hpo_term_name":"Recurrent sinusitis"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0001396","hpo_term_name":"Cholestasis"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0001511","hpo_term_name":"Intrauterine growth retardation"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0001545","hpo_term_name":"Anteriorly placed anus"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0001734","hpo_term_name":"Annular pancreas"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002014","hpo_term_name":"Diarrhea"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002024","hpo_term_name":"Malabsorption"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002247","hpo_term_name":"Duodenal atresia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002566","hpo_term_name":"Intestinal malrotation"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002594","hpo_term_name":"Pancreatic hypoplasia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0002904","hpo_term_name":"Hyperbilirubinemia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0003074","hpo_term_name":"Hyperglycemia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0005235","hpo_term_name":"Jejunal atresia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0005912","hpo_term_name":"Biliary atresia"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0011467","hpo_term_name":"Absent gallbladder"}
{"disease_id":615710,"disease_name":"Mitchell-Riley syndrome","hpo_term_id":"HP:0011985","hpo_term_name":"Acholic stools"}
{"disease_id":615715,"disease_name":"Bone marrow failure syndrome 2","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":615715,"disease_name":"Bone marrow failure syndrome 2","hpo_term_id":"HP:0001882","hpo_term_name":"Leukopenia"}
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{"disease_id":615715,"disease_name":"Bone marrow failure syndrome 2","hpo_term_id":"HP:0005528","hpo_term_name":"Bone marrow hypocellularity"}
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{"disease_id":615723,"disease_name":"Premature ovarian failure 8","hpo_term_id":"HP:0000786","hpo_term_name":"Primary amenorrhea"}
{"disease_id":615723,"disease_name":"Premature ovarian failure 8","hpo_term_id":"HP:0000837","hpo_term_name":"Increased circulating gonadotropin level"}
{"disease_id":615723,"disease_name":"Premature ovarian failure 8","hpo_term_id":"HP:0008209","hpo_term_name":"Premature ovarian insufficiency"}
{"disease_id":615723,"disease_name":"Premature ovarian failure 8","hpo_term_id":"HP:0100615","hpo_term_name":"Ovarian neoplasm"}
{"disease_id":615725,"disease_name":"Retinitis pigmentosa 68","hpo_term_id":"HP:0000510","hpo_term_name":"Rod-cone dystrophy"}
{"disease_id":615725,"disease_name":"Retinitis pigmentosa 68","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":615725,"disease_name":"Retinitis pigmentosa 68","hpo_term_id":"HP:0001105","hpo_term_name":"Retinal atrophy"}
{"disease_id":615725,"disease_name":"Retinitis pigmentosa 68","hpo_term_id":"HP:0001123","hpo_term_name":"Visual field defect"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0000221","hpo_term_name":"Furrowed tongue"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0000230","hpo_term_name":"Gingivitis"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0000962","hpo_term_name":"Hyperkeratosis"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0000975","hpo_term_name":"Hyperhidrosis"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0000982","hpo_term_name":"Palmoplantar keratoderma"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0002745","hpo_term_name":"Oral leukoplakia"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0007556","hpo_term_name":"Plantar hyperkeratosis"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0008401","hpo_term_name":"Onychogryposis of toenails"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0008404","hpo_term_name":"Nail dystrophy"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0010765","hpo_term_name":"Palmar hyperkeratosis"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0040181","hpo_term_name":"Chapped lip"}
{"disease_id":615726,"disease_name":"Pachyonychia congenita 3","hpo_term_id":"HP:0200040","hpo_term_name":"Epidermoid cyst"}
{"disease_id":615728,"disease_name":"Pachyonychia congenita 4","hpo_term_id":"HP:0000962","hpo_term_name":"Hyperkeratosis"}
{"disease_id":615728,"disease_name":"Pachyonychia congenita 4","hpo_term_id":"HP:0000982","hpo_term_name":"Palmoplantar keratoderma"}
{"disease_id":615728,"disease_name":"Pachyonychia congenita 4","hpo_term_id":"HP:0008404","hpo_term_name":"Nail dystrophy"}
{"disease_id":615728,"disease_name":"Pachyonychia congenita 4","hpo_term_id":"HP:0012035","hpo_term_name":"Steatocystoma multiplex"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0000175","hpo_term_name":"Cleft palate"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
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{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0000774","hpo_term_name":"Narrow chest"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
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{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0001623","hpo_term_name":"Breech presentation"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0001989","hpo_term_name":"Fetal akinesia sequence"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0002093","hpo_term_name":"Respiratory insufficiency"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0002650","hpo_term_name":"Scoliosis"}
{"disease_id":615731,"disease_name":"Nemaline myopathy 9","hpo_term_id":"HP:0002804","hpo_term_name":"Arthrogryposis multiplex congenita"}
{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0002121","hpo_term_name":"Absence seizures"}
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{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0006813","hpo_term_name":"Hemiclonic seizures"}
{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0010819","hpo_term_name":"Atonic seizures"}
{"disease_id":615744,"disease_name":"Developmental and epileptic encephalopathy 19","hpo_term_id":"HP:0200134","hpo_term_name":"Epileptic encephalopathy"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0001297","hpo_term_name":"Stroke"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0001638","hpo_term_name":"Cardiomyopathy"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0001662","hpo_term_name":"Bradycardia"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0001692","hpo_term_name":"Atrial arrhythmia"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0001962","hpo_term_name":"Palpitations"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0002094","hpo_term_name":"Dyspnea"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0002617","hpo_term_name":"Dilatation"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0003238","hpo_term_name":"Hyperpepsinogenemia I"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0006698","hpo_term_name":"Dilatation of the ventricular cavity"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0025478","hpo_term_name":"Atrial standstill"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0033122","hpo_term_name":"Absent P wave"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0100699","hpo_term_name":"Scarring"}
{"disease_id":615745,"disease_name":"Atrial standstill 2","hpo_term_id":"HP:0200127","hpo_term_name":"Atrial cardiomyopathy"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0000802","hpo_term_name":"Impotence"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0000822","hpo_term_name":"Hypertension"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0000965","hpo_term_name":"Cutis marmorata"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0001269","hpo_term_name":"Hemiparesis"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0002015","hpo_term_name":"Dysphagia"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0002140","hpo_term_name":"Ischemic stroke"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0002571","hpo_term_name":"Achalasia"}
{"disease_id":615750,"disease_name":"Moyamoya 6 with achalasia","hpo_term_id":"HP:0030880","hpo_term_name":"Raynaud phenomenon"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001254","hpo_term_name":"Lethargy"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001942","hpo_term_name":"Metabolic acidosis"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001943","hpo_term_name":"Hypoglycemia"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001950","hpo_term_name":"Respiratory alkalosis"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001987","hpo_term_name":"Hyperammonemia"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0001993","hpo_term_name":"Ketoacidosis"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0002151","hpo_term_name":"Increased serum lactate"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0002789","hpo_term_name":"Tachypnea"}
{"disease_id":615751,"disease_name":"Hyperammonemia due to carbonic anhydrase VA deficiency","hpo_term_id":"HP:0002919","hpo_term_name":"Ketonuria"}
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{"disease_id":615917,"disease_name":"Combined oxidative phosphorylation deficiency 20","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":615917,"disease_name":"Combined oxidative phosphorylation deficiency 20","hpo_term_id":"HP:0001263","hpo_term_name":"Global developmental delay"}
{"disease_id":615917,"disease_name":"Combined oxidative phosphorylation deficiency 20","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":615917,"disease_name":"Combined oxidative phosphorylation deficiency 20","hpo_term_id":"HP:0001999","hpo_term_name":"Abnormal facial shape"}
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{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0001397","hpo_term_name":"Hepatic steatosis"}
{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0002151","hpo_term_name":"Increased serum lactate"}
{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0002509","hpo_term_name":"Limb hypertonia"}
{"disease_id":615918,"disease_name":"Combined oxidative phosphorylation deficiency 21","hpo_term_id":"HP:0008936","hpo_term_name":"Muscular hypotonia of the trunk"}
{"disease_id":615919,"disease_name":"Ataxia-telangiectasia-like disorder 2","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":616140,"disease_name":"Leukodystrophy, hypomyelinating, 9","hpo_term_id":"HP:0002079","hpo_term_name":"Hypoplasia of the corpus callosum"}
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{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000023","hpo_term_name":"Inguinal hernia"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
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{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000204","hpo_term_name":"Cleft upper lip"}
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{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000377","hpo_term_name":"Abnormality of the pinna"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000470","hpo_term_name":"Short neck"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000476","hpo_term_name":"Cystic hygroma"}
{"disease_id":616145,"disease_name":"Catel-Manzke syndrome","hpo_term_id":"HP:0000767","hpo_term_name":"Pectus excavatum"}
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{"disease_id":616176,"disease_name":"Bleeding disorder, platelet-type, 19","hpo_term_id":"HP:0007420","hpo_term_name":"Spontaneous hematomas"}
{"disease_id":616176,"disease_name":"Bleeding disorder, platelet-type, 19","hpo_term_id":"HP:0040185","hpo_term_name":"Macrothrombocytopenia"}
{"disease_id":616185,"disease_name":"Ovarian dysgenesis 4","hpo_term_id":"HP:0000786","hpo_term_name":"Primary amenorrhea"}
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{"disease_id":616192,"disease_name":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus","hpo_term_id":"HP:0003487","hpo_term_name":"Babinski sign"}
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{"disease_id":616192,"disease_name":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus","hpo_term_id":"HP:0007366","hpo_term_name":"Atrophy/Degeneration affecting the brainstem"}
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{"disease_id":616192,"disease_name":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus","hpo_term_id":"HP:0100543","hpo_term_name":"Cognitive impairment"}
{"disease_id":616192,"disease_name":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus","hpo_term_id":"HP:0100651","hpo_term_name":"Type I diabetes mellitus"}
{"disease_id":616193,"disease_name":"Mental retardation, autosomal recessive 47","hpo_term_id":"HP:0000750","hpo_term_name":"Delayed speech and language development"}
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{"disease_id":616193,"disease_name":"Mental retardation, autosomal recessive 47","hpo_term_id":"HP:0001634","hpo_term_name":"Mitral valve prolapse"}
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{"disease_id":616435,"disease_name":"Fanconi anemia, complementation group T","hpo_term_id":"HP:0005528","hpo_term_name":"Bone marrow hypocellularity"}
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{"disease_id":616744,"disease_name":"Autoinflammatory syndrome, familial, Behcet-like","hpo_term_id":"HP:0003493","hpo_term_name":"Antinuclear antibody positivity"}
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{"disease_id":616744,"disease_name":"Autoinflammatory syndrome, familial, Behcet-like","hpo_term_id":"HP:0025343","hpo_term_name":"Lupus anticoagulant"}
{"disease_id":616744,"disease_name":"Autoinflammatory syndrome, familial, Behcet-like","hpo_term_id":"HP:0032024","hpo_term_name":"Ileal ulcer"}
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{"disease_id":616749,"disease_name":"Heterotaxy, visceral, 7, autosomal","hpo_term_id":"HP:0001696","hpo_term_name":"Situs inversus totalis"}
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{"disease_id":616749,"disease_name":"Heterotaxy, visceral, 7, autosomal","hpo_term_id":"HP:0001748","hpo_term_name":"Polysplenia"}
{"disease_id":616749,"disease_name":"Heterotaxy, visceral, 7, autosomal","hpo_term_id":"HP:0002566","hpo_term_name":"Intestinal malrotation"}
{"disease_id":616749,"disease_name":"Heterotaxy, visceral, 7, autosomal","hpo_term_id":"HP:0004762","hpo_term_name":"Hypoplasia of right ventricle"}
{"disease_id":616749,"disease_name":"Heterotaxy, visceral, 7, autosomal","hpo_term_id":"HP:0004935","hpo_term_name":"Pulmonary artery atresia"}
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{"disease_id":616794,"disease_name":"Combined oxidative phosphorylation deficiency 28","hpo_term_id":"HP:0002151","hpo_term_name":"Increased serum lactate"}
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{"disease_id":616794,"disease_name":"Combined oxidative phosphorylation deficiency 28","hpo_term_id":"HP:0003542","hpo_term_name":"Increased serum pyruvate"}
{"disease_id":616794,"disease_name":"Combined oxidative phosphorylation deficiency 28","hpo_term_id":"HP:0004396","hpo_term_name":"Poor appetite"}
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{"disease_id":616938,"disease_name":"Coffin-Siris syndrome 5","hpo_term_id":"HP:0009882","hpo_term_name":"Short distal phalanx of finger"}
{"disease_id":616938,"disease_name":"Coffin-Siris syndrome 5","hpo_term_id":"HP:0009928","hpo_term_name":"Thick nasal alae"}
{"disease_id":616938,"disease_name":"Coffin-Siris syndrome 5","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":616941,"disease_name":"Agammaglobulinemia 8","hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media"}
{"disease_id":616941,"disease_name":"Agammaglobulinemia 8","hpo_term_id":"HP:0002719","hpo_term_name":"Recurrent infections"}
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{"disease_id":617052,"disease_name":"Bone marrow failure syndrome 3","hpo_term_id":"HP:0006297","hpo_term_name":"Hypoplasia of dental enamel"}
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{"disease_id":617052,"disease_name":"Bone marrow failure syndrome 3","hpo_term_id":"HP:0100255","hpo_term_name":"Metaphyseal dysplasia"}
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{"disease_id":617052,"disease_name":"Bone marrow failure syndrome 3","hpo_term_id":"HP:0100840","hpo_term_name":"Aplasia/Hypoplasia of the eyebrow"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000010","hpo_term_name":"Recurrent urinary tract infections"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000028","hpo_term_name":"Cryptorchidism"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000047","hpo_term_name":"Hypospadias"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000049","hpo_term_name":"Shawl scrotum"}
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{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000815","hpo_term_name":"Hypergonadotropic hypogonadism"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000846","hpo_term_name":"Adrenal insufficiency"}
{"disease_id":617053,"disease_name":"MIRAGE syndrome","hpo_term_id":"HP:0000967","hpo_term_name":"Petechiae"}
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{"disease_id":617205,"disease_name":"Heterotaxy, visceral, 8, autosomal","hpo_term_id":"HP:0011539","hpo_term_name":"Atrial situs ambiguous"}
{"disease_id":617205,"disease_name":"Heterotaxy, visceral, 8, autosomal","hpo_term_id":"HP:0011579","hpo_term_name":"Unbalanced atrioventricular canal defect"}
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{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000308","hpo_term_name":"Microretrognathia"}
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{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000819","hpo_term_name":"Diabetes mellitus"}
{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000822","hpo_term_name":"Hypertension"}
{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000855","hpo_term_name":"Insulin resistance"}
{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0000956","hpo_term_name":"Acanthosis nigricans"}
{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0001397","hpo_term_name":"Hepatic steatosis"}
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{"disease_id":617253,"disease_name":"Seckel syndrome 10","hpo_term_id":"HP:0001714","hpo_term_name":"Ventricular hypertrophy"}
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{"disease_id":617432,"disease_name":"Mental retardation, autosomal recessive 60","hpo_term_id":"HP:0012448","hpo_term_name":"Delayed myelination"}
{"disease_id":617433,"disease_name":"Retinitis pigmentosa 78","hpo_term_id":"HP:0000543","hpo_term_name":"Optic disc pallor"}
{"disease_id":617433,"disease_name":"Retinitis pigmentosa 78","hpo_term_id":"HP:0000662","hpo_term_name":"Nyctalopia"}
{"disease_id":617433,"disease_name":"Retinitis pigmentosa 78","hpo_term_id":"HP:0001123","hpo_term_name":"Visual field defect"}
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{"disease_id":617622,"disease_name":"Joubert syndrome 30","hpo_term_id":"HP:0001162","hpo_term_name":"Postaxial hand polydactyly"}
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{"disease_id":617622,"disease_name":"Joubert syndrome 30","hpo_term_id":"HP:0001272","hpo_term_name":"Cerebellar atrophy"}
{"disease_id":617622,"disease_name":"Joubert syndrome 30","hpo_term_id":"HP:0001305","hpo_term_name":"Dandy-Walker malformation"}
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{"disease_id":617822,"disease_name":"Alkuraya-Kucinskas syndrome","hpo_term_id":"HP:0007370","hpo_term_name":"Aplasia/Hypoplasia of the corpus callosum"}
{"disease_id":617822,"disease_name":"Alkuraya-Kucinskas syndrome","hpo_term_id":"HP:0010557","hpo_term_name":"Overlapping fingers"}
{"disease_id":617822,"disease_name":"Alkuraya-Kucinskas syndrome","hpo_term_id":"HP:0012385","hpo_term_name":"Camptodactyly"}
{"disease_id":617822,"disease_name":"Alkuraya-Kucinskas syndrome","hpo_term_id":"HP:0012725","hpo_term_name":"Cutaneous syndactyly"}
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{"disease_id":617822,"disease_name":"Alkuraya-Kucinskas syndrome","hpo_term_id":"HP:0030084","hpo_term_name":"Clinodactyly"}
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{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0000958","hpo_term_name":"Dry skin"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0000964","hpo_term_name":"Eczema"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0001511","hpo_term_name":"Intrauterine growth retardation"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0001581","hpo_term_name":"Recurrent skin infections"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0001875","hpo_term_name":"Neutropenia"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0001999","hpo_term_name":"Abnormal facial shape"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0002014","hpo_term_name":"Diarrhea"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0002716","hpo_term_name":"Lymphadenopathy"}
{"disease_id":617827,"disease_name":"Immunodeficiency 55","hpo_term_id":"HP:0002719","hpo_term_name":"Recurrent infections"}
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{"disease_id":617895,"disease_name":"Short-rib thoracic dysplasia 19 with or without polydactyly 19","hpo_term_id":"HP:0100259","hpo_term_name":"Postaxial polydactyly"}
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{"disease_id":617898,"disease_name":"Multiple synostoses syndrome 4","hpo_term_id":"HP:0008368","hpo_term_name":"Tarsal synostosis"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly"}
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{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0001272","hpo_term_name":"Cerebellar atrophy"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0001290","hpo_term_name":"Generalized hypotonia"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0001332","hpo_term_name":"Dystonia"}
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{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0001510","hpo_term_name":"Growth delay"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0002059","hpo_term_name":"Cerebral atrophy"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0002093","hpo_term_name":"Respiratory insufficiency"}
{"disease_id":617899,"disease_name":"Leukodystrophy, hypomyelinating, 14","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
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{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0001268","hpo_term_name":"Mental deterioration"}
{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0001269","hpo_term_name":"Hemiparesis"}
{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0001287","hpo_term_name":"Meningitis"}
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{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0002353","hpo_term_name":"EEG abnormality"}
{"disease_id":617900,"disease_name":"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}","hpo_term_id":"HP:0012302","hpo_term_name":"Herpes simplex encephalitis"}
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{"disease_id":617903,"disease_name":"Neurodevelopmental disorder with poor language and loss of hand skills","hpo_term_id":"HP:0003763","hpo_term_name":"Bruxism"}
{"disease_id":617903,"disease_name":"Neurodevelopmental disorder with poor language and loss of hand skills","hpo_term_id":"HP:0012332","hpo_term_name":"Abnormal autonomic nervous system physiology"}
{"disease_id":617903,"disease_name":"Neurodevelopmental disorder with poor language and loss of hand skills","hpo_term_id":"HP:0200055","hpo_term_name":"Small hand"}
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{"disease_id":617912,"disease_name":"Congenital heart defects, multiple types, 5","hpo_term_id":"HP:0001647","hpo_term_name":"Bicuspid aortic valve"}
{"disease_id":617912,"disease_name":"Congenital heart defects, multiple types, 5","hpo_term_id":"HP:0001650","hpo_term_name":"Aortic valve stenosis"}
{"disease_id":617912,"disease_name":"Congenital heart defects, multiple types, 5","hpo_term_id":"HP:0001719","hpo_term_name":"Double outlet right ventricle"}
{"disease_id":617912,"disease_name":"Congenital heart defects, multiple types, 5","hpo_term_id":"HP:0005110","hpo_term_name":"Atrial fibrillation"}
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{"disease_id":617913,"disease_name":"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities","hpo_term_id":"HP:0003355","hpo_term_name":"Aminoaciduria"}
{"disease_id":617913,"disease_name":"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities","hpo_term_id":"HP:0003761","hpo_term_name":"Calcinosis"}
{"disease_id":617913,"disease_name":"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities","hpo_term_id":"HP:0011344","hpo_term_name":"Severe global developmental delay"}
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{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0000089","hpo_term_name":"Renal hypoplasia"}
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{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0000568","hpo_term_name":"Microphthalmia"}
{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0000609","hpo_term_name":"Optic nerve hypoplasia"}
{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0000618","hpo_term_name":"Blindness"}
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{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0002194","hpo_term_name":"Delayed gross motor development"}
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{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0004322","hpo_term_name":"Short stature"}
{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0004719","hpo_term_name":"Hyperechogenic kidneys"}
{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0007018","hpo_term_name":"Attention deficit hyperactivity disorder"}
{"disease_id":617914,"disease_name":"Microcephaly 20, primary, autosomal recessive","hpo_term_id":"HP:0009879","hpo_term_name":"Cortical gyral simplification"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0000490","hpo_term_name":"Deeply set eye"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0000750","hpo_term_name":"Delayed speech and language development"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0001249","hpo_term_name":"Intellectual disability"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0001270","hpo_term_name":"Motor delay"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0001272","hpo_term_name":"Cerebellar atrophy"}
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{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0002007","hpo_term_name":"Frontal bossing"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0002066","hpo_term_name":"Gait ataxia"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0002540","hpo_term_name":"Inability to walk"}
{"disease_id":617915,"disease_name":"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome","hpo_term_id":"HP:0011968","hpo_term_name":"Feeding difficulties"}
{"disease_id":617920,"disease_name":"Amyloidosis, primary localized cutaneous, 3","hpo_term_id":"HP:0000958","hpo_term_name":"Dry skin"}
{"disease_id":617920,"disease_name":"Amyloidosis, primary localized cutaneous, 3","hpo_term_id":"HP:0000989","hpo_term_name":"Pruritus"}
{"disease_id":617920,"disease_name":"Amyloidosis, primary localized cutaneous, 3","hpo_term_id":"HP:0001034","hpo_term_name":"Hypermelanotic macule"}
{"disease_id":617924,"disease_name":"{Epilepsy, juvenile myoclonic, susceptibility to, 10}","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":617924,"disease_name":"{Epilepsy, juvenile myoclonic, susceptibility to, 10}","hpo_term_id":"HP:0002121","hpo_term_name":"Absence seizures"}
{"disease_id":617924,"disease_name":"{Epilepsy, juvenile myoclonic, susceptibility to, 10}","hpo_term_id":"HP:0002123","hpo_term_name":"Generalized myoclonic seizures"}
{"disease_id":617924,"disease_name":"{Epilepsy, juvenile myoclonic, susceptibility to, 10}","hpo_term_id":"HP:0002373","hpo_term_name":"Febrile seizures"}
{"disease_id":617929,"disease_name":"Developmental and epileptic encephalopathy 60","hpo_term_id":"HP:0001250","hpo_term_name":"Seizures"}
{"disease_id":617929,"disease_name":"Developmental and epileptic encephalopathy 60","hpo_term_id":"HP:0002187","hpo_term_name":"Intellectual disability, profound"}
{"disease_id":617929,"disease_name":"Developmental and epileptic encephalopathy 60","hpo_term_id":"HP:0002510","hpo_term_name":"Spastic tetraplegia"}
{"disease_id":617929,"disease_name":"Developmental and epileptic encephalopathy 60","hpo_term_id":"HP:0002521","hpo_term_name":"Hypsarrhythmia"}
{"disease_id":617929,"disease_name":"Developmental and epileptic encephalopathy 60","hpo_term_id":"HP:0200134","hpo_term_name":"Epileptic encephalopathy"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000218","hpo_term_name":"High palate"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000341","hpo_term_name":"Narrow forehead"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000369","hpo_term_name":"Low-set ears"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000431","hpo_term_name":"Wide nasal bridge"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000508","hpo_term_name":"Ptosis"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000651","hpo_term_name":"Diplopia"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0000750","hpo_term_name":"Delayed speech and language development"}
{"disease_id":617931,"disease_name":"Spinocerebellar ataxia 47","hpo_term_id":"HP:0001182","hpo_term_name":"Tapered finger"}
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{"disease_id":618230,"disease_name":"Mitochondrial complex I deficiency, nuclear type 8","hpo_term_id":"HP:0002751","hpo_term_name":"Kyphoscoliosis"}
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{"disease_id":618231,"disease_name":"Epidermodysplasia verruciformis 2","hpo_term_id":"HP:0006739","hpo_term_name":"Squamous cell carcinoma of the skin"}
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{"disease_id":618231,"disease_name":"Epidermodysplasia verruciformis 2","hpo_term_id":"HP:0550004","hpo_term_name":"Verruca plana"}
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{"disease_id":618243,"disease_name":"Mitochondrial complex I deficiency, nuclear type 22","hpo_term_id":"HP:0002421","hpo_term_name":"Poor head control"}
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{"disease_id":618613,"disease_name":"Retinitis pigmentosa 86","hpo_term_id":"HP:0007737","hpo_term_name":"Bone spicule pigmentation of the retina"}
{"disease_id":618613,"disease_name":"Retinitis pigmentosa 86","hpo_term_id":"HP:0007843","hpo_term_name":"Attenuation of retinal blood vessels"}
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{"disease_id":618820,"disease_name":"Genitourinary and/or/brain malformation syndrome","hpo_term_id":"HP:0000343","hpo_term_name":"Long philtrum"}
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{"disease_id":618820,"disease_name":"Genitourinary and/or/brain malformation syndrome","hpo_term_id":"HP:0000356","hpo_term_name":"Abnormality of the outer ear"}
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{"disease_id":618820,"disease_name":"Genitourinary and/or/brain malformation syndrome","hpo_term_id":"HP:0000483","hpo_term_name":"Astigmatism"}
{"disease_id":618820,"disease_name":"Genitourinary and/or/brain malformation syndrome","hpo_term_id":"HP:0000486","hpo_term_name":"Strabismus"}
{"disease_id":618820,"disease_name":"Genitourinary and/or/brain malformation syndrome","hpo_term_id":"HP:0000505","hpo_term_name":"Visual impairment"}
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{"disease_id":618914,"disease_name":"Neurodevelopmental, jaw, eye, and digital syndrome","hpo_term_id":"HP:0000378","hpo_term_name":"Cupped ear"}
{"disease_id":618914,"disease_name":"Neurodevelopmental, jaw, eye, and digital syndrome","hpo_term_id":"HP:0000465","hpo_term_name":"Webbed neck"}
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{"disease_id":618947,"disease_name":"Arthrogryposis multiplex congenita 5","hpo_term_id":"HP:0001511","hpo_term_name":"Intrauterine growth retardation"}
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