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arachnodactyly",1,"agreed"],["d","MONDO:0007365","seizures, benign familial neonatal, 1",1,"single"],["d","MONDO:0007366","seizures, benign familial neonatal, 2",2,"graded_apart"],["d","MONDO:0007369","hereditary coproporphyria",1,"agreed"],["d","MONDO:0007374","Schnyder corneal dystrophy",1,"agreed"],["d","MONDO:0007375","epithelial basement membrane dystrophy",1,"ungraded"],["d","MONDO:0007376","fleck corneal dystrophy",1,"agreed"],["d","MONDO:0007377","granular corneal dystrophy type I",1,"agreed"],["d","MONDO:0007378","posterior polymorphous corneal dystrophy 1",2,"disputed"],["d","MONDO:0007379","Meesmann corneal dystrophy",2,"ungraded"],["d","MONDO:0007380","lattice corneal dystrophy type I",1,"single"],["d","MONDO:0007381","epithelial recurrent erosion dystrophy",1,"graded_apart"],["d","MONDO:0007385","idiopathic spontaneous coronary artery dissection",2,"single"],["d","MONDO:0007387","Cornelia de Lange syndrome 1",1,"agreed"],["d","MONDO:0007389","spondylocostal dysostosis 5",1,"disputed"],["d","MONDO:0007390","coumarin resistance",2,"single"],["d","MONDO:0007395","craniofacial-deafness-hand syndrome",1,"disputed"],["d","MONDO:0007397","craniometaphyseal dysplasia, autosomal dominant",1,"agreed"],["d","MONDO:0007399","TWIST1-related craniosynostosis",1,"graded_apart"],["d","MONDO:0007400","Jackson-Weiss syndrome",2,"agreed"],["d","MONDO:0007403","inherited Creutzfeldt-Jakob disease",1,"agreed"],["d","MONDO:0007405","Crouzon syndrome",1,"agreed"],["d","MONDO:0007411","cutis laxa, autosomal dominant 1",1,"agreed"],["d","MONDO:0007412","Beare-Stevenson cutis gyrata syndrome",1,"agreed"],["d","MONDO:0007415","mitochondrial complex III deficiency nuclear type 1",1,"agreed"],["d","MONDO:0007417","Darier disease",1,"agreed"],["d","MONDO:0007420","autosomal dominant deafness - onychodystrophy syndrome",1,"single"],["d","MONDO:0007422","keratoderma hereditarium mutilans",1,"agreed"],["d","MONDO:0007424","autosomal dominant nonsyndromic hearing loss 1",1,"single"],["d","MONDO:0007429","optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",1,"agreed"],["d","MONDO:0007434","primary failure of tooth eruption",1,"agreed"],["d","MONDO:0007435","dentatorubral-pallidoluysian atrophy",1,"agreed"],["d","MONDO:0007436","dentin dysplasia type I",3,"disputed"],["d","MONDO:0007437","dentin dysplasia type II",1,"ungraded"],["d","MONDO:0007441","dentinogenesis imperfecta type 2",1,"single"],["d","MONDO:0007442","dentinogenesis imperfecta type 3",1,"single"],["d","MONDO:0007445","dermatopathia pigmentosa reticularis",1,"agreed"],["d","MONDO:0007447","autosomal dominant vibratory urticaria",1,"agreed"],["d","MONDO:0007450","neurohypophyseal diabetes insipidus",1,"agreed"],["d","MONDO:0007451","diabetes insipidus, nephrogenic, autosomal",1,"agreed"],["d","MONDO:0007452","maturity-onset diabetes of the young type 1",1,"agreed"],["d","MONDO:0007453","maturity-onset diabetes of the young type 2",1,"agreed"],["d","MONDO:0007454","type 1 diabetes mellitus 2",1,"agreed"],["d","MONDO:0007455","diabetes mellitus, noninsulin-dependent",13,"agreed"],["d","MONDO:0007470","calvarial doughnut lesions-bone fragility syndrome",1,"graded_apart"],["d","MONDO:0007471","Doyne honeycomb retinal dystrophy",3,"agreed"],["d","MONDO:0007472","basal laminar drusen",1,"disputed"],["d","MONDO:0007473","Duane retraction syndrome",3,"ungraded"],["d","MONDO:0007477","3-M syndrome",3,"ungraded"],["d","MONDO:0007478","autosomal dominant Kenny-Caffey syndrome",1,"graded_apart"],["d","MONDO:0007481","Leri-Weill dyschondrosteosis",1,"agreed"],["d","MONDO:0007483","dyschromatosis symmetrica hereditaria",1,"agreed"],["d","MONDO:0007485","dyskeratosis congenita, autosomal dominant 1",1,"graded_apart"],["d","MONDO:0007488","Lewy body dementia",2,"graded_apart"],["d","MONDO:0007492","early-onset generalized limb-onset dystonia",2,"graded_apart"],["d","MONDO:0007493","torsion dystonia 4",1,"agreed"],["d","MONDO:0007494","episodic kinesigenic dyskinesia 1",2,"single"],["d","MONDO:0007495","dystonia 5",1,"agreed"],["d","MONDO:0007496","dystonia 12",1,"graded_apart"],["d","MONDO:0007507","absence of fingerprints-congenital milia syndrome",1,"ungraded"],["d","MONDO:0007508","Rapp-Hodgkin syndrome",1,"single"],["d","MONDO:0007509","ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant",1,"graded_apart"],["d","MONDO:0007510","Clouston syndrome",1,"graded_apart"],["d","MONDO:0007514","ectopia lentis 1, isolated, autosomal dominant",1,"single"],["d","MONDO:0007522","Ehlers-Danlos syndrome, classic type",3,"agreed"],["d","MONDO:0007524","autosomal dominant Ehlers-Danlos syndrome, vascular type",1,"agreed"],["d","MONDO:0007525","Ehlers-Danlos syndrome, arthrochalasia type",2,"agreed"],["d","MONDO:0007526","Ehlers-Danlos syndrome, spondylodysplastic type",1,"ungraded"],["d","MONDO:0007527","Ehlers-Danlos syndrome, periodontitis type",2,"ungraded"],["d","MONDO:0007533","elliptocytosis 2",1,"graded_apart"],["d","MONDO:0007534","Beckwith-Wiedemann syndrome",5,"agreed"],["d","MONDO:0007537","lateral meningocele syndrome",1,"single"],["d","MONDO:0007538","amelogenesis imperfecta, type 3A",4,"agreed"],["d","MONDO:0007540","multiple endocrine neoplasia type 1",1,"disputed"],["d","MONDO:0007542","Camurati-Engelmann disease",1,"agreed"],["d","MONDO:0007548","transient bullous dermolysis of the newborn",1,"single"],["d","MONDO:0007549","generalized dominant dystrophic epidermolysis bullosa",1,"agreed"],["d","MONDO:0007550","epidermolysis bullosa simplex 1A, generalized severe",2,"agreed"],["d","MONDO:0007551","epidermolysis bullosa simplex 1C, localized",3,"single"],["d","MONDO:0007552","pretibial dystrophic epidermolysis bullosa",1,"single"],["d","MONDO:0007554","epidermolysis bullosa simplex 1B, generalized intermediate",2,"agreed"],["d","MONDO:0007555","epidermolysis bullosa simplex 5A, Ogna type",1,"agreed"],["d","MONDO:0007556","epidermolysis bullosa simplex 2F, with mottled pigmentation",2,"agreed"],["d","MONDO:0007557","epidermolysis bullosa with congenital localized absence of skin and deformity of nails",1,"agreed"],["d","MONDO:0007561","multiple epiphyseal dysplasia type 1",1,"single"],["d","MONDO:0007562","multiple epiphyseal dysplasia, Beighton type",1,"single"],["d","MONDO:0007565","familial cylindromatosis",1,"agreed"],["d","MONDO:0007566","multiple self-healing squamous epithelioma",1,"graded_apart"],["d","MONDO:0007568","aortic aneurysm, familial thoracic 4",1,"agreed"],["d","MONDO:0007571","primary erythermalgia",1,"agreed"],["d","MONDO:0007572","primary familial polycythemia due to EPO receptor mutation",2,"agreed"],["d","MONDO:0007574","spinocerebellar ataxia type 34",1,"graded_apart"],["d","MONDO:0007576","esophageal cancer",2,"single"],["d","MONDO:0007585","exostoses, multiple, type 1",1,"agreed"],["d","MONDO:0007586","exostoses, multiple, type 2",1,"agreed"],["d","MONDO:0007589","exudative vitreoretinopathy 1",1,"agreed"],["d","MONDO:0007600","primary Fanconi syndrome",4,"ungraded"],["d","MONDO:0007601","familial Mediterranean fever, autosomal dominant",1,"single"],["d","MONDO:0007606","fibrodysplasia ossificans progressiva",1,"graded_apart"],["d","MONDO:0007607","Birt-Hogg-Dube syndrome",1,"agreed"],["d","MONDO:0007608","desmoid tumor",1,"agreed"],["d","MONDO:0007609","fibromatosis, gingival, 1",1,"single"],["d","MONDO:0007610","gingival fibromatosis-hypertrichosis syndrome",1,"agreed"],["d","MONDO:0007614","congenital fibrosis of extraocular muscles",6,"single"],["d","MONDO:0007615","laurin-Sandrow syndrome",1,"single"],["d","MONDO:0007617","Coffin-Siris syndrome 1",1,"agreed"],["d","MONDO:0007619","isolated congenital adermatoglyphia",1,"agreed"],["d","MONDO:0007620","fish eye disease",1,"agreed"],["d","MONDO:0007621","Floating-Harbor syndrome",1,"agreed"],["d","MONDO:0007630","North Carolina macular dystrophy",1,"disputed"],["d","MONDO:0007634","intellectual disability, FRA12A type",1,"agreed"],["d","MONDO:0007635","Frasier syndrome",1,"ungraded"],["d","MONDO:0007636","frontorhiny",1,"agreed"],["d","MONDO:0007637","corneal dystrophy, Fuchs endothelial, 1",1,"single"],["d","MONDO:0007639","fundus albipunctatus",4,"agreed"],["d","MONDO:0007640","Sorsby fundus dystrophy",1,"agreed"],["d","MONDO:0007646","Gamstorp-Wohlfart syndrome",1,"agreed"],["d","MONDO:0007648","hereditary diffuse gastric adenocarcinoma",3,"single"],["d","MONDO:0007656","Gerstmann-Straussler-Scheinker syndrome",1,"agreed"],["d","MONDO:0007661","Tourette syndrome",76,"agreed"],["d","MONDO:0007662","anterior segment dysgenesis 4",1,"agreed"],["d","MONDO:0007664","glaucoma 1, open angle, A",1,"agreed"],["d","MONDO:0007665","glaucoma 1, open angle, E",2,"disputed"],["d","MONDO:0007669","renal cysts and diabetes syndrome",1,"agreed"],["d","MONDO:0007670","hypotrichosis-lymphedema-telangiectasia syndrome (grouping)",1,"ungraded"],["d","MONDO:0007671","fibronectin glomerulopathy",1,"ungraded"],["d","MONDO:0007672","glomuvenous malformation",1,"agreed"],["d","MONDO:0007677","hyperglycinuria",3,"agreed"],["d","MONDO:0007681","goiter, multinodular 1, with or without Sertoli-Leydig cell tumors",1,"ungraded"],["d","MONDO:0007686","gray platelet syndrome",1,"agreed"],["d","MONDO:0007688","Myhre syndrome",1,"agreed"],["d","MONDO:0007690","aromatase excess syndrome",1,"graded_apart"],["d","MONDO:0007698","hand-foot-genital syndrome",1,"graded_apart"],["d","MONDO:0007700","hawkinsinuria",1,"disputed"],["d","MONDO:0007705","Heinz body anemia",3,"disputed"],["d","MONDO:0007709","hematuria, benign familial, 1",2,"graded_apart"],["d","MONDO:0007712","oculoauriculovertebral spectrum with radial defects",1,"single"],["d","MONDO:0007723","Hirschsprung disease, susceptibility to, 1",1,"single"],["d","MONDO:0007725","hereditary progressive mucinous histiocytosis",1,"single"],["d","MONDO:0007726","hip dysplasia, Beukes type",1,"graded_apart"],["d","MONDO:0007727","TNF receptor 1-associated periodic fever syndrome",1,"agreed"],["d","MONDO:0007728","acne inversa, familial, 1",1,"graded_apart"],["d","MONDO:0007732","Holt-Oram syndrome",1,"agreed"],["d","MONDO:0007733","holoprosencephaly 3",1,"agreed"],["d","MONDO:0007734","holoprosencephaly 4",1,"disputed"],["d","MONDO:0007738","spondyloepiphyseal dysplasia with congenital joint dislocations",1,"agreed"],["d","MONDO:0007739","Huntington disease",2,"agreed"],["d","MONDO:0007740","Wagner disease",1,"graded_apart"],["d","MONDO:0007743","attention deficit-hyperactivity disorder",1,"single"],["d","MONDO:0007744","cholesterol-ester transfer protein deficiency",1,"single"],["d","MONDO:0007745","Gilbert syndrome",1,"single"],["d","MONDO:0007747","isolated hyperchlorhidrosis",1,"disputed"],["d","MONDO:0007748","hypercalciuria, absorptive, 2",2,"disputed"],["d","MONDO:0007749","autosomal recessive infantile hypercalcemia",2,"ungraded"],["d","MONDO:0007750","hypercholesterolemia, familial, 1",3,"agreed"],["d","MONDO:0007751","hypercholesterolemia, autosomal dominant, type B",1,"agreed"],["d","MONDO:0007758","epidermolytic palmoplantar keratoderma, 1",1,"agreed"],["d","MONDO:0007759","hyperlipidemia, familial combined, LPL related",1,"disputed"],["d","MONDO:0007762","hyperlipoproteinemia type V",1,"agreed"],["d","MONDO:0007763","nonpapillary renal cell carcinoma",3,"agreed"],["d","MONDO:0007764","autosomal dominant osteosclerosis, Worth type",1,"agreed"],["d","MONDO:0007765","hyperostosis cranialis interna",1,"single"],["d","MONDO:0007767","hyperparathyroidism 1",1,"single"],["d","MONDO:0007768","hyperparathyroidism 2 with jaw tumors",1,"agreed"],["d","MONDO:0007771","hyperpigmentation with or without hypopigmentation, familial progressive",1,"single"],["d","MONDO:0007777","hypotaurinemic retinal degeneration and cardiomyopathy",1,"graded_apart"],["d","MONDO:0007779","autosomal dominant Opitz G/BBB syndrome",1,"graded_apart"],["d","MONDO:0007780","hypertelorism, Teebi type",1,"graded_apart"],["d","MONDO:0007781","essential hypertension, genetic",4,"single"],["d","MONDO:0007783","malignant hyperthermia, susceptibility to, 1",1,"agreed"],["d","MONDO:0007788","hypertriglyceridemia 1",2,"single"],["d","MONDO:0007790","Charcot-Marie-Tooth disease type 3",4,"single"],["d","MONDO:0007791","familial hypocalciuric hypercalcemia 1",1,"agreed"],["d","MONDO:0007792","familial hypocalciuric hypercalcemia 2",1,"disputed"],["d","MONDO:0007793","hypochondroplasia",1,"agreed"],["d","MONDO:0007794","hypogonadotropic hypogonadism 7 with or without anosmia",1,"disputed"],["d","MONDO:0007796","hypoparathyroidism, familial isolated 1",1,"agreed"],["d","MONDO:0007797","hypoparathyroidism-deafness-renal disease syndrome",1,"agreed"],["d","MONDO:0007798","adult hypophosphatasia",1,"single"],["d","MONDO:0007803","multiple system atrophy",1,"single"],["d","MONDO:0007804","Pallister-Hall syndrome",1,"agreed"],["d","MONDO:0007805","hypotrichosis 2",1,"disputed"],["d","MONDO:0007808","ichthyosis hystrix of Curth-Macklin",1,"agreed"],["d","MONDO:0007810","autosomal dominant ichthyosis vulgaris",1,"disputed"],["d","MONDO:0007812","ichthyosis, lamellar, autosomal dominant",1,"graded_apart"],["d","MONDO:0007813","superficial epidermolytic ichthyosis",1,"agreed"],["d","MONDO:0007817","IgE responsiveness, atopic",2,"single"],["d","MONDO:0007818","hyper-IgE recurrent infection syndrome 1, autosomal dominant",1,"agreed"],["d","MONDO:0007819","solitary median maxillary central incisor syndrome",1,"graded_apart"],["d","MONDO:0007827","inclusion body myositis",1,"single"],["d","MONDO:0007828","indifference to pain, congenital, autosomal dominant",1,"agreed"],["d","MONDO:0007829","cholestasis, intrahepatic, of pregnancy, 1",1,"disputed"],["d","MONDO:0007836","IVIC syndrome",1,"ungraded"],["d","MONDO:0007841","coxopodopatellar syndrome",1,"agreed"],["d","MONDO:0007843","Kabuki syndrome 1",1,"agreed"],["d","MONDO:0007844","hypogonadotropic hypogonadism 2 with or without anosmia",1,"agreed"],["d","MONDO:0007845","Kaposi sarcoma, susceptibility to",1,"single"],["d","MONDO:0007846","KBG syndrome",1,"agreed"],["d","MONDO:0007848","autosomal dominant keratitis",1,"single"],["d","MONDO:0007849","keratitis fugax hereditaria",1,"single"],["d","MONDO:0007850","autosomal dominant keratitis-ichthyosis-hearing loss syndrome",1,"graded_apart"],["d","MONDO:0007851","keratoconus 1",1,"graded_apart"],["d","MONDO:0007852","palmoplantar keratoderma-deafness syndrome",1,"agreed"],["d","MONDO:0007854","keratolytic winter erythema",1,"disputed"],["d","MONDO:0007856","palmoplantar keratoderma-esophageal carcinoma syndrome",1,"graded_apart"],["d","MONDO:0007858","palmoplantar keratoderma, punctate type 1A",1,"agreed"],["d","MONDO:0007859","palmoplantar keratoderma i, striate, focal, or diffuse",1,"agreed"],["d","MONDO:0007862","Waardenburg syndrome type 3",1,"disputed"],["d","MONDO:0007866","Bart-Pumphrey syndrome",1,"agreed"],["d","MONDO:0007868","hyperekplexia 1",1,"agreed"],["d","MONDO:0007871","familial congenital nasolacrimal duct obstruction",1,"single"],["d","MONDO:0007872","LADD syndrome",3,"single"],["d","MONDO:0007875","Larsen syndrome",2,"agreed"],["d","MONDO:0007881","tooth agenesis, selective, 4",1,"single"],["d","MONDO:0007883","periodic fever, immunodeficiency, and thrombocytopenia syndrome",1,"single"],["d","MONDO:0007885","Legg-Calve-Perthes disease",1,"single"],["d","MONDO:0007886","uterine corpus leiomyoma",1,"single"],["d","MONDO:0007888","hereditary leiomyomatosis and renal cell cancer",1,"agreed"],["d","MONDO:0007891","familial generalized lentiginosis",1,"ungraded"],["d","MONDO:0007892","Lenz-Majewski hyperostotic dwarfism",1,"disputed"],["d","MONDO:0007893","Noonan syndrome with multiple lentigines",5,"disputed"],["d","MONDO:0007895","platyspondylic dysplasia, Torrance type",1,"single"],["d","MONDO:0007900","nonsyndromic congenital nail disorder 3",1,"disputed"],["d","MONDO:0007903","Li-Fraumeni syndrome 1",1,"agreed"],["d","MONDO:0007906","familial partial lipodystrophy, Dunnigan type",1,"agreed"],["d","MONDO:0007908","multiple symmetric lipomatosis",1,"ungraded"],["d","MONDO:0007915","systemic lupus erythematosus",35,"agreed"],["d","MONDO:0007918","microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",1,"agreed"],["d","MONDO:0007919","lymphatic malformation 1",1,"agreed"],["d","MONDO:0007922","lymphedema-distichiasis syndrome",1,"disputed"],["d","MONDO:0007924","Bannayan-Riley-Ruvalcaba syndrome",1,"ungraded"],["d","MONDO:0007930","Bernard-Soulier syndrome, type A2, autosomal dominant",1,"agreed"],["d","MONDO:0007931","vitelliform macular dystrophy 2",1,"agreed"],["d","MONDO:0007932","age related macular degeneration 2",1,"agreed"],["d","MONDO:0007937","renal hypomagnesemia 2",1,"graded_apart"],["d","MONDO:0007943","Nager acrofacial dysostosis",1,"agreed"],["d","MONDO:0007944","Treacher Collins syndrome 1",1,"agreed"],["d","MONDO:0007947","Marfan syndrome",1,"agreed"],["d","MONDO:0007949","Marshall syndrome",1,"agreed"],["d","MONDO:0007950","mastocytosis",1,"graded_apart"],["d","MONDO:0007954","May-Hegglin anomaly",1,"single"],["d","MONDO:0007958","familial medullary thyroid carcinoma",3,"single"],["d","MONDO:0007959","medulloblastoma",5,"disputed"],["d","MONDO:0007960","megacystis-microcolon-intestinal hypoperistalsis syndrome",4,"single"],["d","MONDO:0007964","melanoma, cutaneous malignant, susceptibility to, 2",1,"single"],["d","MONDO:0007967","melanoma and neural system tumor syndrome",1,"single"],["d","MONDO:0007972","Meniere disease",2,"single"],["d","MONDO:0007974","intellectual disability, autosomal dominant 1",1,"agreed"],["d","MONDO:0007979","metachondromatosis",1,"agreed"],["d","MONDO:0007982","metaphyseal chondrodysplasia, Jansen type",1,"agreed"],["d","MONDO:0007983","Schmid metaphyseal chondrodysplasia",1,"agreed"],["d","MONDO:0007984","metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome",1,"graded_apart"],["d","MONDO:0007986","metatropic dysplasia",1,"single"],["d","MONDO:0007987","Kniest dysplasia",1,"agreed"],["d","MONDO:0007988","autosomal dominant primary microcephaly",2,"ungraded"],["d","MONDO:0007990","multiple benign circumferential skin creases on limbs",2,"ungraded"],["d","MONDO:0007999","holoprosencephaly 2",1,"agreed"],["d","MONDO:0008002","mirror movements 1",1,"agreed"],["d","MONDO:0008003","autosomal dominant progressive external ophthalmoplegia",5,"ungraded"],["d","MONDO:0008004","familial mitral valve prolapse",1,"ungraded"],["d","MONDO:0008005","cardiospondylocarpofacial syndrome",1,"agreed"],["d","MONDO:0008006","Moebius syndrome",3,"disputed"],["d","MONDO:0008009","monilethrix",4,"graded_apart"],["d","MONDO:0008016","trismus-pseudocamptodactyly syndrome",1,"disputed"],["d","MONDO:0008017","hereditary mucoepithelial dysplasia",1,"graded_apart"],["d","MONDO:0008018","Muir-Torre syndrome",4,"graded_apart"],["d","MONDO:0008019","mullerian aplasia and hyperandrogenism",1,"graded_apart"],["d","MONDO:0008021","Cowden syndrome 1",1,"agreed"],["d","MONDO:0008024","neuronopathy, distal hereditary motor, type 7A",1,"graded_apart"],["d","MONDO:0008025","neuronopathy, distal hereditary motor, type 2A",1,"agreed"],["d","MONDO:0008026","autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures",1,"agreed"],["d","MONDO:0008029","Bethlem myopathy",4,"ungraded"],["d","MONDO:0008030","facioscapulohumeral muscular dystrophy 1",1,"single"],["d","MONDO:0008038","ataxia-pancytopenia syndrome",1,"agreed"],["d","MONDO:0008044","myoclonic dystonia 11",1,"agreed"],["d","MONDO:0008045","spinal muscular atrophy-progressive myoclonic epilepsy syndrome",1,"agreed"],["d","MONDO:0008047","episodic ataxia type 1",1,"agreed"],["d","MONDO:0008048","autosomal dominant centronuclear myopathy",3,"graded_apart"],["d","MONDO:0008050","MYH7-related skeletal myopathy",1,"agreed"],["d","MONDO:0008051","tubular aggregate myopathy",3,"agreed"],["d","MONDO:0008055","myotonia congenita, autosomal dominant",1,"agreed"],["d","MONDO:0008056","myotonic dystrophy type 1",1,"agreed"],["d","MONDO:0008057","Carney complex, type 1",1,"agreed"],["d","MONDO:0008059","Naegeli-Franceschetti-Jadassohn syndrome",1,"disputed"],["d","MONDO:0008060","nonsyndromic congenital nail disorder 1",1,"single"],["d","MONDO:0008061","nail-patella syndrome",1,"agreed"],["d","MONDO:0008062","narcolepsy 1",1,"agreed"],["d","MONDO:0008070","congenital myopathy 2a, typical, autosomal dominant",1,"agreed"],["d","MONDO:0008073","familial juvenile hyperuricemic nephropathy type 1",1,"agreed"],["d","MONDO:0008075","schwannomatosis",2,"single"],["d","MONDO:0008076","amyotrophic neuralgia",1,"agreed"],["d","MONDO:0008082","multiple endocrine neoplasia type 2B",1,"agreed"],["d","MONDO:0008083","ceroid lipofuscinosis, neuronal, 4 (Kufs type)",1,"agreed"],["d","MONDO:0008086","neuropathy, hereditary sensory and autonomic, type 1A",1,"agreed"],["d","MONDO:0008087","hereditary neuropathy with liability to pressure palsies",1,"agreed"],["d","MONDO:0008090","cyclic neutropenia",1,"single"],["d","MONDO:0008092","hereditary neutrophilia",1,"single"],["d","MONDO:0008097","linear nevus sebaceous syndrome",1,"single"],["d","MONDO:0008099","congenital stationary night blindness autosomal dominant 2",1,"disputed"],["d","MONDO:0008102","sick sinus syndrome 2, autosomal dominant",1,"agreed"],["d","MONDO:0008104","Noonan syndrome 1",1,"agreed"],["d","MONDO:0008111","oculodentodigital dysplasia",1,"agreed"],["d","MONDO:0008114","obsessive-compulsive disorder",1,"single"],["d","MONDO:0008115","Feingold syndrome type 1",1,"agreed"],["d","MONDO:0008116","oculopharyngeal muscular dystrophy",2,"agreed"],["d","MONDO:0008119","spinocerebellar ataxia type 1",1,"graded_apart"],["d","MONDO:0008120","spinocerebellar ataxia type 7",1,"single"],["d","MONDO:0008123","autosomal dominant omodysplasia",1,"disputed"],["d","MONDO:0008133","optic atrophy 3",1,"graded_apart"],["d","MONDO:0008134","autosomal dominant optic atrophy, classic form",2,"single"],["d","MONDO:0008135","optic atrophy 13 with retinal and foveal abnormalities",1,"graded_apart"],["d","MONDO:0008146","osteogenesis imperfecta type 1",4,"ungraded"],["d","MONDO:0008147","osteogenesis imperfecta type 2",6,"single"],["d","MONDO:0008148","osteogenesis imperfecta type 4",10,"single"],["d","MONDO:0008150","osteoglophonic dysplasia",1,"disputed"],["d","MONDO:0008151","gnathodiaphyseal dysplasia",1,"graded_apart"],["d","MONDO:0008152","multicentric carpo-tarsal osteolysis with or without nephropathy",1,"graded_apart"],["d","MONDO:0008153","progressive osseous heteroplasia",1,"disputed"],["d","MONDO:0008156","autosomal dominant osteopetrosis 2",1,"agreed"],["d","MONDO:0008157","Buschke-Ollendorff syndrome",1,"agreed"],["d","MONDO:0008165","southeast Asian ovalocytosis",1,"single"],["d","MONDO:0008170","ovarian cancer",6,"single"],["d","MONDO:0008172","hypertrophic osteoarthropathy, primary, autosomal dominant",1,"agreed"],["d","MONDO:0008173","pachyonychia congenita 1",1,"agreed"],["d","MONDO:0008174","pachyonychia congenita 2",1,"agreed"],["d","MONDO:0008176","Paget disease of bone 3",1,"disputed"],["d","MONDO:0008178","inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1",1,"single"],["d","MONDO:0008179","paroxysmal extreme pain disorder",1,"single"],["d","MONDO:0008182","nasopalpebral lipoma-coloboma syndrome",1,"single"],["d","MONDO:0008185","hereditary chronic pancreatitis",7,"graded_apart"],["d","MONDO:0008192","pheochromocytoma/paraganglioma syndrome 1",1,"agreed"],["d","MONDO:0008195","paramyotonia congenita of Von Eulenburg",1,"agreed"],["d","MONDO:0008197","parietal foramina 1",1,"graded_apart"],["d","MONDO:0008198","parietal foramina with cleidocranial dysplasia",1,"disputed"],["d","MONDO:0008199","late-onset Parkinson disease",2,"disputed"],["d","MONDO:0008200","autosomal dominant Parkinson disease 1",1,"single"],["d","MONDO:0008201","Perry syndrome",1,"graded_apart"],["d","MONDO:0008206","benign paroxysmal tonic upgaze of childhood with ataxia",1,"single"],["d","MONDO:0008209","Char syndrome",1,"agreed"],["d","MONDO:0008214","Pelger-Huet anomaly",1,"graded_apart"],["d","MONDO:0008215","adult-onset autosomal dominant demyelinating leukodystrophy",1,"disputed"],["d","MONDO:0008218","Hailey-Hailey disease",1,"agreed"],["d","MONDO:0008221","prolidase deficiency",1,"agreed"],["d","MONDO:0008222","Andersen-Tawil syndrome",2,"agreed"],["d","MONDO:0008223","hypokalemic periodic paralysis",2,"ungraded"],["d","MONDO:0008224","hyperkalemic periodic paralysis",1,"agreed"],["d","MONDO:0008226","periodontitis, aggressive 1",1,"single"],["d","MONDO:0008233","pheochromocytoma",7,"graded_apart"],["d","MONDO:0008234","multiple endocrine neoplasia type 2A",1,"agreed"],["d","MONDO:0008243","Pick disease",2,"agreed"],["d","MONDO:0008244","piebaldism",2,"agreed"],["d","MONDO:0008246","pigmented paravenous retinochoroidal atrophy",1,"agreed"],["d","MONDO:0008250","isolated growth hormone deficiency type II",2,"agreed"],["d","MONDO:0008251","familial pityriasis rubra pilaris",1,"agreed"],["d","MONDO:0008259","familial spontaneous pneumothorax",1,"graded_apart"],["d","MONDO:0008260","Kindler syndrome",1,"agreed"],["d","MONDO:0008263","polycystic kidney disease 1",1,"agreed"],["d","MONDO:0008264","autosomal dominant medullary cystic kidney disease with or without hyperuricemia",2,"single"],["d","MONDO:0008265","polycystic liver disease 1",4,"agreed"],["d","MONDO:0008266","polydactyly, postaxial, type A1",1,"agreed"],["d","MONDO:0008267","orofaciodigital syndrome V",1,"agreed"],["d","MONDO:0008269","polydactyly of 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porphyria",1,"agreed"],["d","MONDO:0008296","familial porphyria cutanea tarda",1,"agreed"],["d","MONDO:0008297","variegate porphyria",1,"agreed"],["d","MONDO:0008300","Prader-Willi syndrome",2,"single"],["d","MONDO:0008301","Guttmacher syndrome",1,"ungraded"],["d","MONDO:0008302","central precocious puberty 1",1,"single"],["d","MONDO:0008303","familial male-limited precocious puberty",1,"agreed"],["d","MONDO:0008305","Currarino triad",1,"agreed"],["d","MONDO:0008306","ABri amyloidosis",1,"graded_apart"],["d","MONDO:0008310","Hutchinson-Gilford progeria syndrome",2,"graded_apart"],["d","MONDO:0008312","autosomal dominant prognathism",2,"single"],["d","MONDO:0008315","prostate cancer",14,"single"],["d","MONDO:0008316","thrombophilia due to protein C deficiency, autosomal dominant",1,"agreed"],["d","MONDO:0008318","Proteus syndrome",1,"agreed"],["d","MONDO:0008319","protoporphyria, erythropoietic, 1",1,"agreed"],["d","MONDO:0008322","pseudoachondroplasia",1,"agreed"],["d","MONDO:0008323","Liddle syndrome",3,"single"],["d","MONDO:0008329","autosomal dominant pseudohypoaldosteronism type 1",1,"agreed"],["d","MONDO:0008332","platelet-type von Willebrand disease",1,"graded_apart"],["d","MONDO:0008338","contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",1,"ungraded"],["d","MONDO:0008339","antecubital pterygium syndrome",1,"single"],["d","MONDO:0008340","congenital ptosis",2,"single"],["d","MONDO:0008345","idiopathic pulmonary fibrosis",1,"graded_apart"],["d","MONDO:0008368","autosomal dominant distal renal tubular acidosis",3,"agreed"],["d","MONDO:0008371","Dowling-Degos disease",4,"single"],["d","MONDO:0008373","retinal arterial tortuosity",1,"ungraded"],["d","MONDO:0008377","retinitis pigmentosa 1",1,"agreed"],["d","MONDO:0008378","retinitis pigmentosa 9",1,"disputed"],["d","MONDO:0008379","retinitis pigmentosa 10",1,"graded_apart"],["d","MONDO:0008380","retinoblastoma",1,"single"],["d","MONDO:0008383","rheumatoid arthritis",1,"single"],["d","MONDO:0008386","Axenfeld-Rieger syndrome type 1",1,"agreed"],["d","MONDO:0008387","ring dermoid of cornea",1,"disputed"],["d","MONDO:0008389","autosomal dominant Robinow syndrome",4,"single"],["d","MONDO:0008391","Robinow-Sorauf syndrome",1,"single"],["d","MONDO:0008393","Rubinstein-Taybi syndrome due to CREBBP mutations",1,"agreed"],["d","MONDO:0008394","Silver-Russell syndrome",1,"single"],["d","MONDO:0008397","aplasia of lacrimal and salivary glands",1,"ungraded"],["d","MONDO:0008404","scalp-ear-nipple syndrome",1,"disputed"],["d","MONDO:0008406","autosomal recessive Emery-Dreifuss muscular dystrophy",1,"ungraded"],["d","MONDO:0008407","neurogenic scapuloperoneal syndrome, Kaeser type",1,"ungraded"],["d","MONDO:0008408","scapuloperoneal spinal muscular atrophy, autosomal dominant",1,"single"],["d","MONDO:0008411","ulnar-mammary syndrome",1,"agreed"],["d","MONDO:0008416","palmoplantar keratoderma-sclerodactyly syndrome",1,"single"],["d","MONDO:0008422","autosomal dominant sideroblastic anemia",1,"graded_apart"],["d","MONDO:0008426","Shprintzen-Goldberg syndrome",2,"agreed"],["d","MONDO:0008428","septooptic dysplasia",7,"agreed"],["d","MONDO:0008429","Singleton-Merten dysplasia",2,"ungraded"],["d","MONDO:0008434","Smith-Magenis syndrome",1,"agreed"],["d","MONDO:0008436","Sneddon syndrome",1,"single"],["d","MONDO:0008437","hereditary spastic paraplegia 3A",1,"agreed"],["d","MONDO:0008438","hereditary spastic paraplegia 4",1,"graded_apart"],["d","MONDO:0008447","hereditary spherocytosis type 1",1,"disputed"],["d","MONDO:0008448","spheroid body myopathy",1,"ungraded"],["d","MONDO:0008449","spina bifida",1,"single"],["d","MONDO:0008453","adult-onset proximal spinal muscular atrophy, autosomal dominant",1,"ungraded"],["d","MONDO:0008457","spinocerebellar ataxia type 6",1,"agreed"],["d","MONDO:0008458","spinocerebellar ataxia type 2",1,"agreed"],["d","MONDO:0008464","split hand-foot malformation 1",1,"graded_apart"],["d","MONDO:0008471","spondyloepiphyseal dysplasia congenita",1,"agreed"],["d","MONDO:0008476","spondyloepimetaphyseal dysplasia, Strudwick type",1,"single"],["d","MONDO:0008477","spondylometaphyseal dysplasia, Kozlowski type",1,"single"],["d","MONDO:0008478","spondylometaphyseal dysplasia, Schmidt type",1,"ungraded"],["d","MONDO:0008479","spondylometaphyseal dysplasia, 'corner fracture' type",1,"agreed"],["d","MONDO:0008484","stapes ankylosis with broad thumbs and toes",1,"ungraded"],["d","MONDO:0008485","sebocystomatosis",1,"agreed"],["d","MONDO:0008490","otospondylomegaepiphyseal dysplasia, autosomal dominant",1,"graded_apart"],["d","MONDO:0008492","stiff skin syndrome",1,"disputed"],["d","MONDO:0008493","overhydrated hereditary stomatocytosis",1,"graded_apart"],["d","MONDO:0008494","cryohydrocytosis",1,"disputed"],["d","MONDO:0008495","platelet storage pool deficiency",1,"ungraded"],["d","MONDO:0008497","Stormorken syndrome",2,"single"],["d","MONDO:0008501","Sturge-Weber syndrome",1,"agreed"],["d","MONDO:0008504","supravalvular aortic stenosis",1,"agreed"],["d","MONDO:0008511","proximal symphalangism",2,"ungraded"],["d","MONDO:0008513","synpolydactyly type 1",1,"agreed"],["d","MONDO:0008514","syndactyly type 3",1,"agreed"],["d","MONDO:0008515","syndactyly type 4",2,"single"],["d","MONDO:0008516","syndactyly type 5",1,"single"],["d","MONDO:0008519","multiple synostoses syndrome 1",1,"agreed"],["d","MONDO:0008520","brachydactyly-elbow wrist dysplasia syndrome",2,"single"],["d","MONDO:0008521","tarsal-carpal coalition syndrome",1,"ungraded"],["d","MONDO:0008523","Blau syndrome",1,"agreed"],["d","MONDO:0008535","telangiectasia, hereditary hemorrhagic, type 1",3,"agreed"],["d","MONDO:0008542","tetralogy of fallot",9,"disputed"],["d","MONDO:0008546","thanatophoric dysplasia type 1",1,"agreed"],["d","MONDO:0008547","thanatophoric dysplasia type 2",1,"agreed"],["d","MONDO:0008552","platelet-type bleeding disorder 16",2,"graded_apart"],["d","MONDO:0008553","platelet-type bleeding disorder 17",1,"agreed"],["d","MONDO:0008554","thrombocythemia 1",2,"graded_apart"],["d","MONDO:0008555","thrombocytopenia 2",1,"agreed"],["d","MONDO:0008559","thrombophilia due to thrombin defect",1,"agreed"],["d","MONDO:0008560","thrombophilia due to activated protein C resistance",1,"agreed"],["d","MONDO:0008564","DiGeorge syndrome",1,"agreed"],["d","MONDO:0008566","thyroid cancer, nonmedullary, 2",2,"single"],["d","MONDO:0008569","thyroid hormone resistance, generalized, autosomal dominant",1,"agreed"],["d","MONDO:0008575","nicotine dependence",1,"single"],["d","MONDO:0008582","tooth and nail syndrome",1,"agreed"],["d","MONDO:0008590","tremor, hereditary essential, 1",1,"single"],["d","MONDO:0008592","tricho-dento-osseous syndrome",1,"graded_apart"],["d","MONDO:0008593","trichomegaly",1,"single"],["d","MONDO:0008596","trichorhinophalangeal syndrome type I",1,"agreed"],["d","MONDO:0008597","trichorhinophalangeal syndrome, type III",1,"agreed"],["d","MONDO:0008610","blue color blindness",1,"disputed"],["d","MONDO:0008612","tuberous sclerosis 1",1,"agreed"],["d","MONDO:0008621","uncombable hair syndrome",2,"ungraded"],["d","MONDO:0008630","urinary bladder, atony of",1,"agreed"],["d","MONDO:0008633","Muckle-Wells syndrome",1,"ungraded"],["d","MONDO:0008641","retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",1,"agreed"],["d","MONDO:0008644","velocardiofacial syndrome",1,"single"],["d","MONDO:0008647","hypertrophic cardiomyopathy 1",2,"agreed"],["d","MONDO:0008648","ventricular tachycardia, familial",2,"graded_apart"],["d","MONDO:0008652","congenital vertical talus",2,"agreed"],["d","MONDO:0008654","spinocerebellar ataxia 27A",1,"single"],["d","MONDO:0008659","transcobalamin I deficiency",1,"single"],["d","MONDO:0008660","autosomal dominant hypophosphatemic rickets",1,"graded_apart"],["d","MONDO:0008662","autosomal dominant vitreoretinochoroidopathy",1,"graded_apart"],["d","MONDO:0008663","snowflake vitreoretinal degeneration",1,"graded_apart"],["d","MONDO:0008664","autosomal dominant neovascular inflammatory vitreoretinopathy",1,"single"],["d","MONDO:0008667","von Hippel-Lindau disease",2,"agreed"],["d","MONDO:0008668","von Willebrand disease 1",1,"agreed"],["d","MONDO:0008670","Waardenburg syndrome type 1",1,"agreed"],["d","MONDO:0008671","Waardenburg syndrome type 2A",1,"agreed"],["d","MONDO:0008673","acrofacial dysostosis, Weyers type",2,"disputed"],["d","MONDO:0008674","WHIM syndrome",1,"single"],["d","MONDO:0008675","Freeman-Sheldon syndrome",2,"graded_apart"],["d","MONDO:0008676","white sponge nevus 1",1,"graded_apart"],["d","MONDO:0008679","Wilms tumor 1",1,"agreed"],["d","MONDO:0008682","Denys-Drash syndrome",1,"agreed"],["d","MONDO:0008684","Wolf-Hirschhorn syndrome",1,"single"],["d","MONDO:0008685","Wolff-Parkinson-White syndrome",1,"agreed"],["d","MONDO:0008686","isolated familial wooly hair disorder",5,"ungraded"],["d","MONDO:0008689","dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",1,"agreed"],["d","MONDO:0008692","abetalipoproteinemia",1,"agreed"],["d","MONDO:0008693","ablepharon macrostomia syndrome",1,"agreed"],["d","MONDO:0008695","VPS13A-related neurodegenerative disease",1,"agreed"],["d","MONDO:0008698","achalasia",1,"single"],["d","MONDO:0008700","acheiropody",1,"agreed"],["d","MONDO:0008701","achondrogenesis type IA",1,"graded_apart"],["d","MONDO:0008702","achondrogenesis type II",1,"agreed"],["d","MONDO:0008703","acromesomelic dysplasia 2A",2,"graded_apart"],["d","MONDO:0008705","lysosomal acid phosphatase deficiency",1,"agreed"],["d","MONDO:0008708","acrocallosal syndrome",2,"graded_apart"],["d","MONDO:0008710","RAB23-related Carpenter syndrome",1,"agreed"],["d","MONDO:0008713","acrodermatitis enteropathica",1,"agreed"],["d","MONDO:0008714","acrofacial dysostosis Rodriguez type",1,"ungraded"],["d","MONDO:0008717","acromesomelic dysplasia 2C, Hunter-Thompson type",1,"ungraded"],["d","MONDO:0008720","congenital isolated adrenocorticotropic hormone deficiency",1,"agreed"],["d","MONDO:0008721","medium chain acyl-CoA dehydrogenase deficiency",1,"agreed"],["d","MONDO:0008722","short chain acyl-CoA dehydrogenase deficiency",1,"graded_apart"],["d","MONDO:0008723","very long chain acyl-CoA dehydrogenase deficiency",1,"agreed"],["d","MONDO:0008725","congenital lipoid adrenal hyperplasia due to STAR deficency",1,"agreed"],["d","MONDO:0008726","Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",1,"agreed"],["d","MONDO:0008727","congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",1,"agreed"],["d","MONDO:0008728","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1,"agreed"],["d","MONDO:0008729","congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency",1,"agreed"],["d","MONDO:0008730","congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",1,"agreed"],["d","MONDO:0008733","familial glucocorticoid deficiency",4,"ungraded"],["d","MONDO:0008734","adrenocortical carcinoma, hereditary",1,"single"],["d","MONDO:0008736","peroxisome biogenesis disorder 2B",1,"single"],["d","MONDO:0008737","congenital afibrinogenemia",3,"agreed"],["d","MONDO:0008740","agnathia-otocephaly complex",2,"disputed"],["d","MONDO:0008742","autosomal dominant severe congenital neutropenia",3,"ungraded"],["d","MONDO:0008745","oculocutaneous albinism type 1A",1,"agreed"],["d","MONDO:0008746","oculocutaneous albinism type 2",2,"agreed"],["d","MONDO:0008747","oculocutaneous albinism type 3",1,"agreed"],["d","MONDO:0008748","Hermansky-Pudlak syndrome 1",1,"agreed"],["d","MONDO:0008751","corticosterone methyloxidase type 1 deficiency",1,"graded_apart"],["d","MONDO:0008752","Alexander disease",1,"agreed"],["d","MONDO:0008753","alkaptonuria",1,"agreed"],["d","MONDO:0008757","alopecia universalis congenita",1,"graded_apart"],["d","MONDO:0008758","mitochondrial DNA depletion syndrome 4a",1,"agreed"],["d","MONDO:0008759","oxoglutaricaciduria",1,"disputed"],["d","MONDO:0008760","beta-ketothiolase deficiency",1,"agreed"],["d","MONDO:0008762","autosomal recessive Alport syndrome",2,"agreed"],["d","MONDO:0008763","Alstrom syndrome",1,"agreed"],["d","MONDO:0008764","Leber congenital amaurosis 1",1,"agreed"],["d","MONDO:0008765","Leber congenital amaurosis 2",1,"agreed"],["d","MONDO:0008767","neuronal ceroid lipofuscinosis 3",1,"agreed"],["d","MONDO:0008768","ceroid lipofuscinosis, neuronal, 6B (Kufs type)",1,"agreed"],["d","MONDO:0008769","neuronal ceroid lipofuscinosis 2",1,"agreed"],["d","MONDO:0008770","amelogenesis imperfecta type 1C",1,"disputed"],["d","MONDO:0008771","amelogenesis imperfecta type 1G",1,"agreed"],["d","MONDO:0008772","amelogenesis imperfecta type 2A1",1,"graded_apart"],["d","MONDO:0008774","2-aminoadipic 2-oxoadipic aciduria",1,"agreed"],["d","MONDO:0008777","gelatinous drop-like corneal dystrophy",1,"agreed"],["d","MONDO:0008779","arthrogryposis",4,"single"],["d","MONDO:0008780","amyotrophic lateral sclerosis type 2, juvenile",1,"single"],["d","MONDO:0008783","Tangier disease",1,"agreed"],["d","MONDO:0008785","sideroblastic anemia 2",1,"agreed"],["d","MONDO:0008787","microcytic anemia with liver iron overload",1,"graded_apart"],["d","MONDO:0008788","IRIDA syndrome",1,"agreed"],["d","MONDO:0008791","anencephaly 1",1,"single"],["d","MONDO:0008795","aniridia-cerebellar ataxia-intellectual disability syndrome",2,"agreed"],["d","MONDO:0008798","nonsyndromic congenital nail disorder 4",1,"agreed"],["d","MONDO:0008799","anophthalmia/microphthalmia-esophageal atresia syndrome",1,"disputed"],["d","MONDO:0008800","microphthalmia with limb anomalies",1,"agreed"],["d","MONDO:0008810","familial apolipoprotein C-II deficiency",1,"agreed"],["d","MONDO:0008814","arginase deficiency",1,"agreed"],["d","MONDO:0008815","argininosuccinic aciduria",1,"agreed"],["d","MONDO:0008817","arterial calcification, generalized, of infancy, 1",1,"agreed"],["d","MONDO:0008818","arterial tortuosity syndrome",1,"agreed"],["d","MONDO:0008822","arthrogryposis, renal dysfunction, and cholestasis 1",1,"agreed"],["d","MONDO:0008823","arthrogryposis multiplex congenita 2, neurogenic type",1,"disputed"],["d","MONDO:0008827","progressive pseudorheumatoid arthropathy of childhood",1,"agreed"],["d","MONDO:0008828","camptodactyly-arthropathy-coxa vara-pericarditis syndrome",1,"agreed"],["d","MONDO:0008830","aspartylglucosaminuria",1,"agreed"],["d","MONDO:0008832","right atrial isomerism",1,"disputed"],["d","MONDO:0008834","asthma, nasal polyps, and aspirin intolerance",2,"single"],["d","MONDO:0008840","ataxia telangiectasia",1,"agreed"],["d","MONDO:0008842","ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",1,"agreed"],["d","MONDO:0008846","atransferrinemia",1,"disputed"],["d","MONDO:0008847","atrichia with papular lesions",1,"agreed"],["d","MONDO:0008849","atrophoderma vermiculata",1,"ungraded"],["d","MONDO:0008852","congenital central hypoventilation syndrome",2,"ungraded"],["d","MONDO:0008853","Barber-Say syndrome",1,"agreed"],["d","MONDO:0008854","Bardet-Biedl syndrome 1",2,"agreed"],["d","MONDO:0008855","MHC class II deficiency",4,"agreed"],["d","MONDO:0008856","immunodeficiency 27A",1,"agreed"],["d","MONDO:0008858","Behr syndrome",1,"agreed"],["d","MONDO:0008861","3-methylcrotonyl-CoA carboxylase 1 deficiency",1,"agreed"],["d","MONDO:0008862","3-methylcrotonyl-CoA carboxylase 2 deficiency",1,"agreed"],["d","MONDO:0008863","sitosterolemia",2,"agreed"],["d","MONDO:0008865","Bietti crystalline corneoretinal dystrophy",1,"agreed"],["d","MONDO:0008869","Seckel syndrome 1",1,"agreed"],["d","MONDO:0008871","microcephalic osteodysplastic primordial dwarfism type I",1,"graded_apart"],["d","MONDO:0008872","microcephalic osteodysplastic primordial dwarfism type II",1,"agreed"],["d","MONDO:0008876","Bloom syndrome",2,"graded_apart"],["d","MONDO:0008879","Bowen-Conradi syndrome",1,"disputed"],["d","MONDO:0008881","kyphomelic dysplasia",1,"single"],["d","MONDO:0008885","Elsahy-Waters syndrome",1,"graded_apart"],["d","MONDO:0008887","bronchiectasis with or without elevated sweat chloride 1",1,"single"],["d","MONDO:0008890","progressive bulbar palsy",1,"agreed"],["d","MONDO:0008892","progressive familial intrahepatic cholestasis type 1",2,"agreed"],["d","MONDO:0008893","C syndrome",1,"agreed"],["d","MONDO:0008895","hereditary arterial and articular multiple calcification syndrome",1,"graded_apart"],["d","MONDO:0008897","tumoral calcinosis, hyperphosphatemic, familial, 1",3,"single"],["d","MONDO:0008903","lung cancer",4,"agreed"],["d","MONDO:0008905","predisposition to invasive fungal disease due to CARD9 deficiency",1,"agreed"],["d","MONDO:0008907","PMM2-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0008908","MGAT2-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0008910","carboxypeptidase N deficiency",1,"agreed"],["d","MONDO:0008913","cardiac valvular defect, developmental",1,"graded_apart"],["d","MONDO:0008915","dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome",1,"ungraded"],["d","MONDO:0008918","carnitine-acylcarnitine translocase deficiency",1,"agreed"],["d","MONDO:0008919","systemic primary carnitine deficiency disease",1,"agreed"],["d","MONDO:0008922","Sengers syndrome",3,"agreed"],["d","MONDO:0008923","autosomal recessive palmoplantar keratoderma and congenital alopecia",1,"single"],["d","MONDO:0008925","cataract 46 juvenile-onset",1,"disputed"],["d","MONDO:0008926","COFS syndrome",4,"ungraded"],["d","MONDO:0008927","colobomatous optic disc-macular atrophy-chorioretinopathy syndrome",1,"disputed"],["d","MONDO:0008929","cataract-intellectual disability-hypogonadism syndrome",2,"ungraded"],["d","MONDO:0008931","Cenani-Lenz syndactyly syndrome",2,"agreed"],["d","MONDO:0008935","cerebellar ataxia-hypogonadism syndrome",2,"graded_apart"],["d","MONDO:0008939","isolated cerebellar hypoplasia/agenesis",1,"graded_apart"],["d","MONDO:0008943","autosomal recessive spinocerebellar ataxia 2",1,"graded_apart"],["d","MONDO:0008944","Joubert syndrome 1",1,"agreed"],["d","MONDO:0008947","bilateral striopallidodentate calcinosis",6,"ungraded"],["d","MONDO:0008948","cerebrotendinous xanthomatosis",1,"agreed"],["d","MONDO:0008952","cerebrofaciothoracic dysplasia",1,"graded_apart"],["d","MONDO:0008953","peroxisome biogenesis disorder 1A (Zellweger)",1,"agreed"],["d","MONDO:0008954","peroxisome biogenesis disorder 2A (Zellweger)",1,"graded_apart"],["d","MONDO:0008958","Klippel-Feil syndrome 2, autosomal recessive",1,"graded_apart"],["d","MONDO:0008961","Charcot-Marie-Tooth disease type 4A",1,"single"],["d","MONDO:0008962","Griscelli syndrome type 1",1,"graded_apart"],["d","MONDO:0008963","Chediak-Higashi syndrome",1,"agreed"],["d","MONDO:0008964","congenital secretory chloride diarrhea 1",1,"agreed"],["d","MONDO:0008965","CHARGE syndrome",3,"agreed"],["d","MONDO:0008967","congenital bile acid synthesis defect 4",1,"single"],["d","MONDO:0008970","chondrodysplasia Blomstrand type",1,"agreed"],["d","MONDO:0008972","rhizomelic chondrodysplasia punctata type 1",1,"agreed"],["d","MONDO:0008974","Greenberg dysplasia",1,"graded_apart"],["d","MONDO:0008975","otospondylomegaepiphyseal dysplasia",2,"single"],["d","MONDO:0008977","chondrosarcoma",1,"single"],["d","MONDO:0008978","chordoma",1,"single"],["d","MONDO:0008980","ataxia-hypogonadism-choroidal dystrophy syndrome",1,"ungraded"],["d","MONDO:0008982","central areolar choroidal dystrophy",3,"single"],["d","MONDO:0008988","citrullinemia type I",1,"agreed"],["d","MONDO:0008995","Yunis-Varon syndrome",2,"agreed"],["d","MONDO:0008996","COACH syndrome 1",4,"single"],["d","MONDO:0008999","Cohen syndrome",1,"agreed"],["d","MONDO:0009002","coloboma, ocular, autosomal recessive",1,"single"],["d","MONDO:0009003","achromatopsia 2",1,"agreed"],["d","MONDO:0009006","complement component 2 deficiency",1,"agreed"],["d","MONDO:0009007","Jalili syndrome",1,"agreed"],["d","MONDO:0009008","heart defect - tongue hamartoma - polysyndactyly syndrome",1,"disputed"],["d","MONDO:0009009","hypoplasminogenemia",1,"agreed"],["d","MONDO:0009014","cornea plana 2",1,"graded_apart"],["d","MONDO:0009015","corneal dystrophy-perceptive deafness syndrome",1,"agreed"],["d","MONDO:0009019","congenital hereditary endothelial dystrophy of cornea",1,"agreed"],["d","MONDO:0009020","macular corneal dystrophy",1,"agreed"],["d","MONDO:0009021","Toriello-Carey syndrome",1,"ungraded"],["d","MONDO:0009022","corpus callosum, agenesis of",3,"single"],["d","MONDO:0009025","apparent mineralocorticoid excess",1,"agreed"],["d","MONDO:0009026","Costello syndrome",9,"agreed"],["d","MONDO:0009031","craniodiaphyseal dysplasia",1,"ungraded"],["d","MONDO:0009032","cranioectodermal dysplasia",5,"ungraded"],["d","MONDO:0009033","temtamy syndrome",1,"agreed"],["d","MONDO:0009035","craniometaphyseal dysplasia, autosomal recessive",1,"agreed"],["d","MONDO:0009039","Baller-Gerold syndrome",1,"agreed"],["d","MONDO:0009046","Fraser syndrome",3,"single"],["d","MONDO:0009047","cryptorchidism",2,"agreed"],["d","MONDO:0009049","Cushing syndrome due to macronodular adrenal hyperplasia",1,"ungraded"],["d","MONDO:0009052","cutis laxa, autosomal recessive, type 1A",1,"graded_apart"],["d","MONDO:0009053","ALDH18A1-related de Barsy syndrome",1,"graded_apart"],["d","MONDO:0009054","autosomal recessive cutis laxa type 2, classic type",3,"single"],["d","MONDO:0009055","cutis marmorata telangiectatica congenita",1,"single"],["d","MONDO:0009058","cystathioninuria",1,"graded_apart"],["d","MONDO:0009061","cystic fibrosis",19,"agreed"],["d","MONDO:0009063","ventriculomegaly-cystic kidney disease",1,"agreed"],["d","MONDO:0009064","ocular cystinosis",1,"single"],["d","MONDO:0009066","juvenile nephropathic cystinosis",1,"agreed"],["d","MONDO:0009067","cystinuria",2,"agreed"],["d","MONDO:0009068","cytochrome-c oxidase deficiency disease",15,"single"],["d","MONDO:0009069","congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",1,"agreed"],["d","MONDO:0009070","D-glyceric aciduria",1,"graded_apart"],["d","MONDO:0009071","hereditary renal hypouricemia",2,"ungraded"],["d","MONDO:0009072","Dandy-Walker syndrome",1,"single"],["d","MONDO:0009073","Ritscher-Schinzel syndrome 1",1,"disputed"],["d","MONDO:0009076","autosomal recessive nonsyndromic hearing loss 1A",2,"graded_apart"],["d","MONDO:0009078","Jervell and Lange-Nielsen syndrome",2,"ungraded"],["d","MONDO:0009079","DOORS syndrome",2,"agreed"],["d","MONDO:0009080","split hand-foot malformation 1 with sensorineural hearing loss",1,"disputed"],["d","MONDO:0009082","high myopia-sensorineural deafness syndrome",1,"graded_apart"],["d","MONDO:0009091","non-acquired combined pituitary hormone deficiency with spine abnormalities",1,"agreed"],["d","MONDO:0009092","polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly",2,"ungraded"],["d","MONDO:0009096","hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia",2,"agreed"],["d","MONDO:0009097","persistent hyperplastic primary vitreous, autosomal recessive",1,"agreed"],["d","MONDO:0009100","type 1 diabetes mellitus 1",1,"single"],["d","MONDO:0009101","Wolfram syndrome 1",1,"agreed"],["d","MONDO:0009104","Donnai-Barrow syndrome",1,"agreed"],["d","MONDO:0009105","trichohepatoenteric syndrome",2,"ungraded"],["d","MONDO:0009107","diastrophic dysplasia",1,"agreed"],["d","MONDO:0009109","lysinuric protein intolerance",1,"agreed"],["d","MONDO:0009110","dicarboxylic aminoaciduria",1,"disputed"],["d","MONDO:0009111","dihydropyrimidinuria",1,"agreed"],["d","MONDO:0009112","rhizomelic chondrodysplasia punctata type 2",1,"agreed"],["d","MONDO:0009113","hemolytic anemia due to diphosphoglycerate mutase deficiency",1,"disputed"],["d","MONDO:0009114","congenital sucrase-isomaltase deficiency",1,"agreed"],["d","MONDO:0009115","congenital lactase deficiency",1,"graded_apart"],["d","MONDO:0009123","orthostatic hypotension 1",1,"graded_apart"],["d","MONDO:0009130","Dyggve-Melchior-Clausen disease",1,"agreed"],["d","MONDO:0009131","Riley-Day syndrome",1,"graded_apart"],["d","MONDO:0009133","cerebellar ataxia, intellectual disability, and dysequilibrium",6,"single"],["d","MONDO:0009134","congenital dyserythropoietic anemia type 2",1,"agreed"],["d","MONDO:0009135","anemia, congenital dyserythropoietic, type 1a",1,"agreed"],["d","MONDO:0009136","dyskeratosis congenita, autosomal recessive 1",1,"disputed"],["d","MONDO:0009138","dysosteosclerosis",3,"single"],["d","MONDO:0009140","Silverman-Handmaker type dyssegmental dysplasia",1,"agreed"],["d","MONDO:0009141","torsion dystonia 2",1,"agreed"],["d","MONDO:0009143","Meier-Gorlin syndrome 1",1,"agreed"],["d","MONDO:0009144","Ebstein anomaly",1,"ungraded"],["d","MONDO:0009145","Schöpf-Schulz-Passarge syndrome",1,"ungraded"],["d","MONDO:0009147","ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",1,"agreed"],["d","MONDO:0009151","cleft lip/palate-ectodermal dysplasia syndrome",1,"graded_apart"],["d","MONDO:0009152","ectopia lentis 2, isolated, autosomal recessive",1,"agreed"],["d","MONDO:0009153","ectopia lentis et pupillae",1,"agreed"],["d","MONDO:0009154","hypothyroidism, congenital, nongoitrous, 5",1,"disputed"],["d","MONDO:0009155","EEM syndrome",1,"agreed"],["d","MONDO:0009157","split hand-foot malformation 6",1,"graded_apart"],["d","MONDO:0009159","Ehlers-Danlos syndrome, cardiac valvular type",1,"agreed"],["d","MONDO:0009161","Ehlers-Danlos syndrome, dermatosparaxis type",2,"agreed"],["d","MONDO:0009162","Ellis-van Creveld syndrome",6,"agreed"],["d","MONDO:0009165","Aicardi-Goutieres syndrome 1",1,"agreed"],["d","MONDO:0009166","pontocerebellar hypoplasia type 4",1,"single"],["d","MONDO:0009168","Fowler syndrome",1,"graded_apart"],["d","MONDO:0009173","congenital enteropathy due to enteropeptidase deficiency",1,"agreed"],["d","MONDO:0009174","protein-losing enteropathy",1,"single"],["d","MONDO:0009176","epidermodysplasia verruciformis",7,"single"],["d","MONDO:0009179","recessive dystrophic epidermolysis bullosa",1,"agreed"],["d","MONDO:0009180","junctional epidermolysis bullosa, non-Herlitz type",5,"agreed"],["d","MONDO:0009181","epidermolysis bullosa simplex 5B, with muscular dystrophy",1,"single"],["d","MONDO:0009182","junctional epidermolysis bullosa Herlitz type",3,"agreed"],["d","MONDO:0009183","junctional epidermolysis bullosa with pyloric atresia",2,"agreed"],["d","MONDO:0009185","amelocerebrohypohidrotic syndrome",2,"agreed"],["d","MONDO:0009189","multiple epiphyseal dysplasia type 4",1,"graded_apart"],["d","MONDO:0009191","Lowry-Wood syndrome",1,"single"],["d","MONDO:0009192","Wolcott-Rallison syndrome",1,"agreed"],["d","MONDO:0009194","immunodeficiency 32B",1,"graded_apart"],["d","MONDO:0009203","focal facial dermal dysplasia type III",1,"agreed"],["d","MONDO:0009206","factor V and factor VIII, combined deficiency of, type 1",1,"agreed"],["d","MONDO:0009210","congenital factor V deficiency",1,"agreed"],["d","MONDO:0009211","congenital factor VII deficiency",1,"agreed"],["d","MONDO:0009212","congenital factor X deficiency",1,"agreed"],["d","MONDO:0009213","Fanconi anemia complementation group C",1,"agreed"],["d","MONDO:0009214","Fanconi anemia complementation group D2",1,"agreed"],["d","MONDO:0009215","Fanconi anemia complementation group A",1,"agreed"],["d","MONDO:0009216","glycogen storage disease due to GLUT2 deficiency",1,"agreed"],["d","MONDO:0009218","Farber lipogranulomatosis",1,"agreed"],["d","MONDO:0009223","hypogonadotropic hypogonadism 23 with or without anosmia",1,"graded_apart"],["d","MONDO:0009226","fibrochondrogenesis 1",1,"agreed"],["d","MONDO:0009227","myofibromatosis, infantile, 1",1,"agreed"],["d","MONDO:0009229","hyaline fibromatosis syndrome",1,"agreed"],["d","MONDO:0009231","acromesomelic dysplasia 2B",2,"ungraded"],["d","MONDO:0009232","Fuhrmann syndrome",1,"agreed"],["d","MONDO:0009234","congenital high-molecular-weight kininogen deficiency",1,"agreed"],["d","MONDO:0009235","familial benign flecked retina",1,"disputed"],["d","MONDO:0009238","hereditary folate malabsorption",1,"agreed"],["d","MONDO:0009239","hypogonadotropic hypogonadism 24 without anosmia",1,"graded_apart"],["d","MONDO:0009240","formiminoglutamic aciduria",1,"graded_apart"],["d","MONDO:0009242","brittle cornea syndrome",3,"single"],["d","MONDO:0009245","Friedreich ataxia",1,"ungraded"],["d","MONDO:0009249","hereditary fructose intolerance",1,"agreed"],["d","MONDO:0009251","fructose-1,6-bisphosphatase deficiency",1,"agreed"],["d","MONDO:0009252","essential fructosuria",1,"single"],["d","MONDO:0009253","Fryns syndrome",1,"ungraded"],["d","MONDO:0009254","fucosidosis",1,"agreed"],["d","MONDO:0009255","galactokinase deficiency",1,"agreed"],["d","MONDO:0009257","galactose epimerase deficiency",1,"agreed"],["d","MONDO:0009258","classic galactosemia",1,"agreed"],["d","MONDO:0009259","gamma-glutamylcysteine synthetase deficiency",1,"graded_apart"],["d","MONDO:0009260","GM1 gangliosidosis type 1",1,"single"],["d","MONDO:0009261","GM1 gangliosidosis type 2",1,"single"],["d","MONDO:0009262","GM1 gangliosidosis type 3",1,"agreed"],["d","MONDO:0009263","GAPO syndrome",1,"agreed"],["d","MONDO:0009265","Gaucher disease type I",1,"agreed"],["d","MONDO:0009266","Gaucher disease type II",1,"single"],["d","MONDO:0009267","Gaucher disease type III",1,"single"],["d","MONDO:0009268","Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",1,"single"],["d","MONDO:0009269","geleophysic dysplasia 1",1,"agreed"],["d","MONDO:0009271","geroderma osteodysplasticum",2,"graded_apart"],["d","MONDO:0009273","hydatidiform mole, recurrent, 1",1,"agreed"],["d","MONDO:0009274","ghosal hematodiaphyseal dysplasia",1,"agreed"],["d","MONDO:0009276","Bernard-Soulier syndrome",3,"agreed"],["d","MONDO:0009277","glaucoma 3A",1,"agreed"],["d","MONDO:0009278","hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",1,"single"],["d","MONDO:0009279","triple-A syndrome",4,"agreed"],["d","MONDO:0009281","glutaryl-CoA dehydrogenase deficiency",1,"graded_apart"],["d","MONDO:0009282","multiple acyl-CoA dehydrogenase deficiency",3,"agreed"],["d","MONDO:0009283","glutaric acidemia type 3",1,"graded_apart"],["d","MONDO:0009285","gamma-glutamyl transpeptidase deficiency",1,"graded_apart"],["d","MONDO:0009287","glycogen storage disease due to glucose-6-phosphatase deficiency type IA",1,"agreed"],["d","MONDO:0009288","glycogen storage disease Ib",1,"agreed"],["d","MONDO:0009290","glycogen storage disease II",1,"agreed"],["d","MONDO:0009291","glycogen storage disease III",1,"agreed"],["d","MONDO:0009292","glycogen storage disease due to glycogen branching enzyme deficiency",1,"agreed"],["d","MONDO:0009293","glycogen storage disease V",1,"disputed"],["d","MONDO:0009294","glycogen storage disease VI",1,"agreed"],["d","MONDO:0009295","glycogen storage disease VII",1,"agreed"],["d","MONDO:0009297","familial renal glucosuria",1,"agreed"],["d","MONDO:0009299","46 XX gonadal dysgenesis",9,"ungraded"],["d","MONDO:0009300","Perrault syndrome 1",1,"agreed"],["d","MONDO:0009305","granulocytopenia with immunoglobulin abnormality",1,"disputed"],["d","MONDO:0009308","granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",1,"agreed"],["d","MONDO:0009309","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",1,"agreed"],["d","MONDO:0009310","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",1,"agreed"],["d","MONDO:0009315","congenital factor XII deficiency",1,"agreed"],["d","MONDO:0009319","pantothenate kinase-associated neurodegeneration",1,"agreed"],["d","MONDO:0009324","Hartnup disease",2,"agreed"],["d","MONDO:0009329","pulmonary venoocclusive disease 2",1,"agreed"],["d","MONDO:0009335","hemolytic uremic syndrome, atypical, susceptibility to, 1",3,"graded_apart"],["d","MONDO:0009337","Hennekam lymphangiectasia-lymphedema syndrome 1",1,"agreed"],["d","MONDO:0009338","hepatic veno-occlusive disease-immunodeficiency syndrome",1,"graded_apart"],["d","MONDO:0009339","congenital bile acid synthesis defect 2",1,"agreed"],["d","MONDO:0009340","non-spherocytic hemolytic anemia due to hexokinase deficiency",1,"graded_apart"],["d","MONDO:0009341","Mowat-Wilson syndrome",1,"agreed"],["d","MONDO:0009345","histidinemia",1,"graded_apart"],["d","MONDO:0009348","classic Hodgkin lymphoma",1,"agreed"],["d","MONDO:0009352","classic homocystinuria",1,"agreed"],["d","MONDO:0009353","homocystinuria due to methylene tetrahydrofolate reductase deficiency",1,"agreed"],["d","MONDO:0009354","methylcobalamin deficiency type cblE",1,"agreed"],["d","MONDO:0009359","multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome",1,"graded_apart"],["d","MONDO:0009360","hydrocephalus, nonsyndromic, autosomal recessive 1",1,"graded_apart"],["d","MONDO:0009364","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",1,"agreed"],["d","MONDO:0009365","hydrolethalus syndrome 1",1,"graded_apart"],["d","MONDO:0009366","normal pressure hydrocephalus",1,"agreed"],["d","MONDO:0009367","McKusick-Kaufman syndrome",1,"agreed"],["d","MONDO:0009368","urofacial syndrome type 1",1,"graded_apart"],["d","MONDO:0009369","non-immune hydrops fetalis",2,"graded_apart"],["d","MONDO:0009370","L-2-hydroxyglutaric aciduria",1,"agreed"],["d","MONDO:0009371","3-hydroxyisobutyric aciduria",1,"agreed"],["d","MONDO:0009372","encephalopathy due to hydroxykynureninuria",1,"disputed"],["d","MONDO:0009374","hydroxyprolinemia",1,"agreed"],["d","MONDO:0009376","carbamoyl phosphate synthetase I deficiency disease",1,"agreed"],["d","MONDO:0009377","hyperammonemia due to N-acetylglutamate synthase deficiency",1,"agreed"],["d","MONDO:0009379","Rotor syndrome",2,"ungraded"],["d","MONDO:0009380","Dubin-Johnson syndrome",1,"agreed"],["d","MONDO:0009384","Leydig cell hypoplasia, type 1",1,"agreed"],["d","MONDO:0009387","familial lipoprotein lipase deficiency",1,"agreed"],["d","MONDO:0009388","hyperlysinemia",1,"graded_apart"],["d","MONDO:0009393","ornithine translocase deficiency",1,"agreed"],["d","MONDO:0009394","juvenile Paget disease",1,"agreed"],["d","MONDO:0009395","hyperostosis corticalis generalisata",2,"ungraded"],["d","MONDO:0009397","neonatal severe primary hyperparathyroidism",2,"agreed"],["d","MONDO:0009398","hyperphosphatasia with intellectual disability syndrome 1",1,"graded_apart"],["d","MONDO:0009400","hyperprolinemia type 1",1,"agreed"],["d","MONDO:0009401","hyperprolinemia type 2",1,"disputed"],["d","MONDO:0009406","hypertrichotic osteochondrodysplasia Cantu type",2,"agreed"],["d","MONDO:0009411","autoimmune polyendocrine syndrome type 1",1,"graded_apart"],["d","MONDO:0009413","immunodeficiency, common variable, 2",1,"agreed"],["d","MONDO:0009414","glycogen storage disorder due to hepatic glycogen synthase deficiency",1,"agreed"],["d","MONDO:0009415","hypoglycemia, leucine-induced",1,"agreed"],["d","MONDO:0009416","hypoinsulinemic hypoglycemia and body hemihypertrophy",1,"agreed"],["d","MONDO:0009419","Woodhouse-Sakati syndrome",1,"agreed"],["d","MONDO:0009423","hypokalemic alkalosis, familial, with specific renal tubulopathy",1,"single"],["d","MONDO:0009424","Bartter disease type 2",1,"agreed"],["d","MONDO:0009426","hypoparathyroidism-retardation-dysmorphism syndrome",1,"agreed"],["d","MONDO:0009427","infantile hypophosphatasia",1,"single"],["d","MONDO:0009428","childhood hypophosphatasia",1,"single"],["d","MONDO:0009430","hypophosphatemic rickets, autosomal recessive, 1",1,"graded_apart"],["d","MONDO:0009431","hereditary hypophosphatemic rickets with hypercalciuria",1,"agreed"],["d","MONDO:0009434","hypoproteinemia, hypercatabolic",1,"disputed"],["d","MONDO:0009436","congenital hypothalamic hamartoma syndrome",1,"graded_apart"],["d","MONDO:0009437","Bamforth-Lazarus syndrome",1,"disputed"],["d","MONDO:0009439","autosomal recessive congenital ichthyosis 2",1,"agreed"],["d","MONDO:0009440","ichthyosiform erythroderma, corneal involvement, and hearing loss",1,"graded_apart"],["d","MONDO:0009441","autosomal recessive congenital ichthyosis 1",1,"agreed"],["d","MONDO:0009443","autosomal recessive congenital ichthyosis 4B",1,"agreed"],["d","MONDO:0009448","iminoglycinuria",1,"agreed"],["d","MONDO:0009452","Vici syndrome",1,"agreed"],["d","MONDO:0009454","immunodeficiency-centromeric instability-facial anomalies syndrome 1",1,"agreed"],["d","MONDO:0009458","Schimke immuno-osseous dysplasia",1,"agreed"],["d","MONDO:0009459","channelopathy-associated congenital insensitivity to pain, autosomal recessive",2,"disputed"],["d","MONDO:0009461","spermatogenic failure 5",2,"agreed"],["d","MONDO:0009465","multiple intestinal atresia",1,"agreed"],["d","MONDO:0009470","Baraitser-Winter syndrome 1",1,"agreed"],["d","MONDO:0009472","acetylation, slow",1,"single"],["d","MONDO:0009475","isovaleric acidemia",1,"agreed"],["d","MONDO:0009477","Stromme syndrome",1,"agreed"],["d","MONDO:0009478","combined immunodeficiency due to DOCK8 deficiency",1,"graded_apart"],["d","MONDO:0009479","Johanson-Blizzard syndrome",1,"agreed"],["d","MONDO:0009480","Joubert syndrome with oculorenal defect",7,"ungraded"],["d","MONDO:0009482","hypogonadotropic hypogonadism 3 with or without anosmia",1,"agreed"],["d","MONDO:0009484","primary ciliary dyskinesia 1",1,"agreed"],["d","MONDO:0009485","oculocerebrofacial syndrome, Kaufman type",1,"agreed"],["d","MONDO:0009486","autosomal recessive Kenny-Caffey syndrome",1,"single"],["d","MONDO:0009490","Papillon-Lefevre disease",1,"disputed"],["d","MONDO:0009491","Haim-Munk syndrome",1,"graded_apart"],["d","MONDO:0009492","succinyl-CoA:3-ketoacid CoA transferase deficiency",1,"agreed"],["d","MONDO:0009495","Keutel syndrome",1,"agreed"],["d","MONDO:0009499","Krabbe disease",1,"agreed"],["d","MONDO:0009501","metabolic myopathy due to lactate transporter defect",1,"single"],["d","MONDO:0009502","pyruvate dehydrogenase E2 deficiency",1,"graded_apart"],["d","MONDO:0009503","pyruvate dehydrogenase E3-binding protein deficiency",1,"agreed"],["d","MONDO:0009504","mitochondrial DNA depletion syndrome 9",1,"agreed"],["d","MONDO:0009506","specific granule deficiency",2,"ungraded"],["d","MONDO:0009509","Landau-Kleffner syndrome",1,"agreed"],["d","MONDO:0009511","Larsen-like syndrome, B3GAT3 type",1,"graded_apart"],["d","MONDO:0009513","laryngo-onycho-cutaneous syndrome",1,"agreed"],["d","MONDO:0009514","Laurence-Moon syndrome",1,"ungraded"],["d","MONDO:0009515","Norum disease",1,"single"],["d","MONDO:0009517","Donohue syndrome",1,"agreed"],["d","MONDO:0009520","3-hydroxy-3-methylglutaric aciduria",1,"agreed"],["d","MONDO:0009525","split hand-foot malformation 3",1,"single"],["d","MONDO:0009527","lipase deficiency, combined",1,"graded_apart"],["d","MONDO:0009528","chylomicron retention disease",1,"agreed"],["d","MONDO:0009529","pyruvate dehydrogenase E3 deficiency",1,"agreed"],["d","MONDO:0009530","lipoid proteinosis",1,"agreed"],["d","MONDO:0009544","macrocephaly/megalencephaly syndrome, autosomal recessive",1,"disputed"],["d","MONDO:0009548","renal hypomagnesemia 5 with ocular involvement",1,"agreed"],["d","MONDO:0009549","severe early-childhood-onset retinal dystrophy",6,"agreed"],["d","MONDO:0009550","renal hypomagnesemia 3",1,"agreed"],["d","MONDO:0009552","mal de Meleda",1,"agreed"],["d","MONDO:0009554","3MC syndrome 3",1,"single"],["d","MONDO:0009556","malonic aciduria",1,"agreed"],["d","MONDO:0009557","mandibuloacral dysplasia with type A lipodystrophy",1,"single"],["d","MONDO:0009558","Treacher Collins syndrome 3",1,"graded_apart"],["d","MONDO:0009560","oculotrichoanal syndrome",1,"agreed"],["d","MONDO:0009561","alpha-mannosidosis",1,"agreed"],["d","MONDO:0009562","beta-mannosidosis",1,"agreed"],["d","MONDO:0009563","maple syrup urine disease",3,"agreed"],["d","MONDO:0009564","Marden-Walker syndrome",1,"agreed"],["d","MONDO:0009567","Marinesco-Sjogren syndrome",1,"agreed"],["d","MONDO:0009568","mast syndrome",1,"disputed"],["d","MONDO:0009571","Meckel syndrome, type 1",1,"agreed"],["d","MONDO:0009572","autosomal recessive familial Mediterranean fever",1,"single"],["d","MONDO:0009575","thiamine-responsive megaloblastic anemia syndrome",1,"agreed"],["d","MONDO:0009579","Frank-Ter Haar syndrome",1,"agreed"],["d","MONDO:0009580","intellectual disability, autosomal recessive 1",1,"disputed"],["d","MONDO:0009585","encephalopathy due to beta-mercaptolactate-cysteine disulfiduria",1,"single"],["d","MONDO:0009588","Langer mesomelic dysplasia",1,"graded_apart"],["d","MONDO:0009590","metachromatic leukodystrophy due to saposin B deficiency",1,"graded_apart"],["d","MONDO:0009591","metachromatic leukodystrophy, juvenile form",1,"agreed"],["d","MONDO:0009593","spondylometaphyseal dysplasia, Sedaghatian type",1,"graded_apart"],["d","MONDO:0009595","cartilage-hair hypoplasia",1,"agreed"],["d","MONDO:0009597","metaphyseal chondrodysplasia, Spahr type",1,"graded_apart"],["d","MONDO:0009598","metaphyseal chondrodysplasia-retinitis pigmentosa syndrome",1,"agreed"],["d","MONDO:0009603","3-hydroxyisobutyryl-CoA hydrolase deficiency",1,"agreed"],["d","MONDO:0009605","methemoglobinemia type 4",1,"agreed"],["d","MONDO:0009606","methemoglobinemia due to deficiency of methemoglobin reductase",1,"agreed"],["d","MONDO:0009607","methionine adenosyltransferase deficiency",1,"agreed"],["d","MONDO:0009609","methylcobalamin deficiency type cblG",1,"agreed"],["d","MONDO:0009610","3-methylglutaconic aciduria type 1",1,"agreed"],["d","MONDO:0009612","methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",1,"agreed"],["d","MONDO:0009613","methylmalonic aciduria, cblA type",1,"agreed"],["d","MONDO:0009614","methylmalonic aciduria, cblB type",1,"agreed"],["d","MONDO:0009615","methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency",1,"agreed"],["d","MONDO:0009617","microcephaly 1, primary, autosomal recessive",1,"agreed"],["d","MONDO:0009619","microcephaly-micromelia syndrome",1,"single"],["d","MONDO:0009622","Jawad syndrome",1,"agreed"],["d","MONDO:0009623","Nijmegen breakage syndrome",1,"agreed"],["d","MONDO:0009624","microcephaly and chorioretinopathy 1",3,"agreed"],["d","MONDO:0009625","diencephalic-mesencephalic junction dysplasia syndrome 1",1,"agreed"],["d","MONDO:0009626","pseudo-TORCH syndrome",1,"ungraded"],["d","MONDO:0009627","Galloway-Mowat syndrome",8,"ungraded"],["d","MONDO:0009629","Desbuquois dysplasia 1",1,"agreed"],["d","MONDO:0009633","microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",1,"graded_apart"],["d","MONDO:0009634","microtia with meatal atresia and conductive deafness",1,"single"],["d","MONDO:0009635","microvillus inclusion disease",3,"agreed"],["d","MONDO:0009636","mitochondrial DNA depletion syndrome 3 (hepatocerebral type)",1,"agreed"],["d","MONDO:0009637","inborn mitochondrial myopathy",1,"single"],["d","MONDO:0009640","mitochondrial complex I deficiency, nuclear type",2,"single"],["d","MONDO:0009641","mitochondrial complex II deficiency",4,"single"],["d","MONDO:0009642","orofaciodigital syndrome type II",1,"ungraded"],["d","MONDO:0009643","sulfite oxidase deficiency due to molybdenum cofactor deficiency type A",1,"agreed"],["d","MONDO:0009644","sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1",1,"graded_apart"],["d","MONDO:0009650","mucolipidosis type II",1,"agreed"],["d","MONDO:0009652","GNPTG-mucolipidosis",1,"agreed"],["d","MONDO:0009653","mucolipidosis type IV",1,"agreed"],["d","MONDO:0009655","mucopolysaccharidosis type 3A",1,"agreed"],["d","MONDO:0009656","mucopolysaccharidosis type 3B",1,"agreed"],["d","MONDO:0009657","mucopolysaccharidosis type 3C",1,"agreed"],["d","MONDO:0009658","mucopolysaccharidosis type 3D",1,"agreed"],["d","MONDO:0009659","mucopolysaccharidosis type 4A",1,"agreed"],["d","MONDO:0009660","mucopolysaccharidosis type 4B",1,"agreed"],["d","MONDO:0009661","mucopolysaccharidosis type 6",1,"agreed"],["d","MONDO:0009662","mucopolysaccharidosis type 7",1,"agreed"],["d","MONDO:0009664","mulibrey nanism",1,"agreed"],["d","MONDO:0009665","biotinidase deficiency",1,"agreed"],["d","MONDO:0009666","holocarboxylase synthetase deficiency",1,"agreed"],["d","MONDO:0009667","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",1,"agreed"],["d","MONDO:0009668","lethal multiple pterygium syndrome",5,"disputed"],["d","MONDO:0009669","spinal muscular atrophy, type 1",1,"agreed"],["d","MONDO:0009670","lethal congenital contracture syndrome 1",1,"agreed"],["d","MONDO:0009672","spinal muscular atrophy, type III",2,"single"],["d","MONDO:0009673","spinal muscular atrophy, type II",1,"single"],["d","MONDO:0009675","autosomal recessive limb-girdle muscular dystrophy type 2A",1,"agreed"],["d","MONDO:0009676","autosomal recessive limb-girdle muscular dystrophy type 2B",1,"single"],["d","MONDO:0009677","autosomal recessive limb-girdle muscular dystrophy type 2C",1,"agreed"],["d","MONDO:0009678","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",1,"agreed"],["d","MONDO:0009681","Ullrich congenital muscular dystrophy 1A",3,"agreed"],["d","MONDO:0009682","muscular dystrophy, congenital, with rapid progression",1,"single"],["d","MONDO:0009683","autosomal recessive limb-girdle muscular dystrophy type 2H",1,"agreed"],["d","MONDO:0009685","Miyoshi myopathy",1,"ungraded"],["d","MONDO:0009689","congenital myasthenic syndrome 6",1,"agreed"],["d","MONDO:0009690","congenital myasthenic syndrome 10",1,"agreed"],["d","MONDO:0009694","myeloperoxidase deficiency",1,"single"],["d","MONDO:0009696","juvenile myoclonic epilepsy",4,"single"],["d","MONDO:0009697","Lafora disease",2,"agreed"],["d","MONDO:0009698","Unverricht-Lundborg syndrome",3,"agreed"],["d","MONDO:0009699","action myoclonus-renal failure syndrome",1,"agreed"],["d","MONDO:0009700","Carey-Fineman-Ziter syndrome",2,"agreed"],["d","MONDO:0009703","myopathy with abnormal lipid metabolism",1,"graded_apart"],["d","MONDO:0009704","carnitine palmitoyl transferase II deficiency, myopathic form",1,"ungraded"],["d","MONDO:0009705","carnitine palmitoyl transferase 1A deficiency",1,"agreed"],["d","MONDO:0009706","hereditary myopathy with lactic acidosis due to ISCU deficiency",1,"agreed"],["d","MONDO:0009708","myopathy, myosin storage, autosomal recessive",1,"graded_apart"],["d","MONDO:0009709","myopathy, centronuclear, 2",1,"graded_apart"],["d","MONDO:0009710","Thomsen and Becker disease",1,"ungraded"],["d","MONDO:0009711","congenital fiber-type disproportion myopathy",8,"single"],["d","MONDO:0009712","congenital multicore myopathy with external ophthalmoplegia",1,"agreed"],["d","MONDO:0009714","myosclerosis",1,"ungraded"],["d","MONDO:0009715","myotonia congenita, autosomal recessive",1,"agreed"],["d","MONDO:0009717","Schwartz-Jampel syndrome",1,"ungraded"],["d","MONDO:0009719","familial atrial myxoma",1,"single"],["d","MONDO:0009720","Keipert syndrome",1,"agreed"],["d","MONDO:0009722","Bailey-Bloch congenital myopathy",1,"graded_apart"],["d","MONDO:0009723","Leigh syndrome",116,"graded_apart"],["d","MONDO:0009724","nail-patella-like renal disease",1,"ungraded"],["d","MONDO:0009725","nemaline myopathy 2",1,"disputed"],["d","MONDO:0009726","proteosome-associated autoinflammatory syndrome",1,"single"],["d","MONDO:0009727","atelosteogenesis type II",1,"single"],["d","MONDO:0009728","nephronophthisis 1",7,"agreed"],["d","MONDO:0009732","congenital nephrotic syndrome, Finnish type",1,"agreed"],["d","MONDO:0009734","hyperinsulinemic hypoglycemia, familial, 1",1,"agreed"],["d","MONDO:0009735","Netherton syndrome",1,"agreed"],["d","MONDO:0009736","Neu-Laxova syndrome 1",2,"single"],["d","MONDO:0009737","galactosialidosis",1,"agreed"],["d","MONDO:0009738","sialidosis type 2",1,"agreed"],["d","MONDO:0009741","neuroblastoma, susceptibility to, 1",1,"single"],["d","MONDO:0009744","neuronal ceroid lipofuscinosis 1",1,"agreed"],["d","MONDO:0009745","neuronal ceroid lipofuscinosis 5",1,"agreed"],["d","MONDO:0009746","hereditary sensory and autonomic neuropathy type 4",1,"agreed"],["d","MONDO:0009747","mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",1,"agreed"],["d","MONDO:0009748","hereditary sensory and autonomic neuropathy with spastic paraplegia",1,"agreed"],["d","MONDO:0009749","giant axonal neuropathy 1",1,"agreed"],["d","MONDO:0009756","Niemann-Pick disease type A",1,"agreed"],["d","MONDO:0009757","Niemann-Pick disease, type C1",1,"agreed"],["d","MONDO:0009758","congenital stationary night blindness 1B",1,"agreed"],["d","MONDO:0009759","mosaic variegated aneuploidy syndrome 1",1,"agreed"],["d","MONDO:0009760","Norman-Roberts syndrome",1,"graded_apart"],["d","MONDO:0009762","nystagmus, congenital, autosomal recessive",1,"single"],["d","MONDO:0009764","ocular motor apraxia, Cogan type",1,"single"],["d","MONDO:0009768","oculodentodigital dysplasia, autosomal recessive",1,"graded_apart"],["d","MONDO:0009770","3MC syndrome 1",1,"agreed"],["d","MONDO:0009773","odonto-onycho-dermal dysplasia",1,"single"],["d","MONDO:0009775","Oguchi disease-1",1,"agreed"],["d","MONDO:0009776","spermatogenic failure 1",1,"single"],["d","MONDO:0009779","autosomal recessive omodysplasia",1,"graded_apart"],["d","MONDO:0009783","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",1,"single"],["d","MONDO:0009785","opsismodysplasia",1,"agreed"],["d","MONDO:0009787","3-methylglutaconic aciduria type 3",2,"agreed"],["d","MONDO:0009794","orofaciodigital syndrome IV",1,"agreed"],["d","MONDO:0009795","orofaciodigital syndrome IX",1,"disputed"],["d","MONDO:0009796","ornithine aminotransferase deficiency",1,"agreed"],["d","MONDO:0009797","orotic aciduria",1,"graded_apart"],["d","MONDO:0009798","Primrose syndrome",1,"graded_apart"],["d","MONDO:0009799","pachydermoperiostosis",2,"ungraded"],["d","MONDO:0009804","osteogenesis imperfecta type 3",11,"single"],["d","MONDO:0009805","osteogenesis imperfecta type 9",1,"graded_apart"],["d","MONDO:0009806","Bruck syndrome 1",1,"agreed"],["d","MONDO:0009807","osteosarcoma",5,"single"],["d","MONDO:0009809","multicentric osteolysis, nodulosis, and arthropathy",1,"agreed"],["d","MONDO:0009815","autosomal recessive osteopetrosis 1",1,"agreed"],["d","MONDO:0009816","autosomal recessive osteopetrosis 2",1,"graded_apart"],["d","MONDO:0009817","autosomal recessive osteopetrosis 5",1,"agreed"],["d","MONDO:0009818","autosomal recessive osteopetrosis 3",1,"agreed"],["d","MONDO:0009820","osteoporosis-pseudoglioma syndrome",1,"agreed"],["d","MONDO:0009821","lethal osteosclerotic bone dysplasia",1,"graded_apart"],["d","MONDO:0009823","primary hyperoxaluria type 1",1,"agreed"],["d","MONDO:0009824","primary hyperoxaluria type 2",1,"agreed"],["d","MONDO:0009825","5-oxoprolinase deficiency",1,"graded_apart"],["d","MONDO:0009830","parkinsonian-pyramidal syndrome",2,"agreed"],["d","MONDO:0009831","malignant pancreatic neoplasm",8,"single"],["d","MONDO:0009832","pancreatic agenesis",2,"ungraded"],["d","MONDO:0009833","Shwachman-Diamond syndrome",5,"single"],["d","MONDO:0009839","progressive supranuclear palsy-parkinsonism syndrome",1,"graded_apart"],["d","MONDO:0009841","PEHO syndrome",1,"disputed"],["d","MONDO:0009843","leukodystrophy, hypomyelinating, 3",1,"graded_apart"],["d","MONDO:0009845","pelviscapular dysplasia",1,"agreed"],["d","MONDO:0009846","pentosuria",1,"single"],["d","MONDO:0009849","hyperimmunoglobulinemia D with periodic fever",1,"single"],["d","MONDO:0009852","hereditary intrinsic factor deficiency",1,"agreed"],["d","MONDO:0009853","Imerslund-Grasbeck syndrome",2,"ungraded"],["d","MONDO:0009855","d-bifunctional protein deficiency",1,"agreed"],["d","MONDO:0009856","Peters plus syndrome",1,"agreed"],["d","MONDO:0009857","persistent Mullerian duct syndrome",2,"agreed"],["d","MONDO:0009861","phenylketonuria",1,"agreed"],["d","MONDO:0009862","dihydropteridine reductase deficiency",1,"agreed"],["d","MONDO:0009863","BH4-deficient hyperphenylalaninemia A",2,"agreed"],["d","MONDO:0009864","phosphoenolpyruvate carboxykinase deficiency, mitochondrial",1,"agreed"],["d","MONDO:0009865","glycogen storage disease due to phosphoglycerate mutase deficiency",1,"agreed"],["d","MONDO:0009866","phosphoenolpyruvate carboxykinase deficiency, cytosolic",1,"agreed"],["d","MONDO:0009867","lethal congenital glycogen storage disease of heart",1,"single"],["d","MONDO:0009868","glycogen storage disease IXb",1,"agreed"],["d","MONDO:0009869","isolated Pierre-Robin syndrome",1,"disputed"],["d","MONDO:0009871","pili torti-developmental delay-neurological abnormalities syndrome",1,"agreed"],["d","MONDO:0009872","Bjornstad syndrome",1,"disputed"],["d","MONDO:0009874","Rabson-Mendenhall syndrome",1,"agreed"],["d","MONDO:0009875","achromatopsia 3",1,"agreed"],["d","MONDO:0009876","isolated growth hormone deficiency type IA",2,"agreed"],["d","MONDO:0009877","Laron syndrome",1,"agreed"],["d","MONDO:0009878","pituitary hormone deficiency, combined, 2",1,"agreed"],["d","MONDO:0009879","short stature due to growth hormone qualitative anomaly",1,"single"],["d","MONDO:0009880","short stature-pituitary and cerebellar defects-small sella turcica syndrome",1,"graded_apart"],["d","MONDO:0009883","alpha-2-plasmin inhibitor deficiency",1,"agreed"],["d","MONDO:0009885","Scott syndrome",1,"graded_apart"],["d","MONDO:0009889","autosomal recessive polycystic kidney disease",3,"agreed"],["d","MONDO:0009890","Gillessen-Kaesbach-Nishimura syndrome",1,"single"],["d","MONDO:0009892","Chuvash polycythemia",1,"agreed"],["d","MONDO:0009894","short-rib thoracic dysplasia 6 with or without polydactyly",1,"agreed"],["d","MONDO:0009897","adult polyglucosan body disease",1,"single"],["d","MONDO:0009901","Bartsocas-Papas syndrome 1",1,"agreed"],["d","MONDO:0009902","cutaneous porphyria",2,"agreed"],["d","MONDO:0009903","postaxial acrofacial dysostosis",1,"agreed"],["d","MONDO:0009904","Gitelman syndrome",2,"agreed"],["d","MONDO:0009908","pterin-4 alpha-carbinolamine dehydratase 1 deficiency",1,"graded_apart"],["d","MONDO:0009910","Wiedemann-Rautenstrauch syndrome",1,"agreed"],["d","MONDO:0009916","46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",1,"agreed"],["d","MONDO:0009917","pseudohypoaldosteronism, type IB1, autosomal recessive",3,"agreed"],["d","MONDO:0009919","peroxisomal acyl-CoA oxidase deficiency",1,"agreed"],["d","MONDO:0009923","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",1,"agreed"],["d","MONDO:0009924","vitamin D-dependent rickets, type 1",2,"ungraded"],["d","MONDO:0009925","autosomal recessive inherited pseudoxanthoma elasticum",2,"agreed"],["d","MONDO:0009926","autosomal recessive multiple pterygium syndrome",2,"agreed"],["d","MONDO:0009927","3MC syndrome 2",1,"agreed"],["d","MONDO:0009928","pulmonary alveolar microlithiasis",1,"agreed"],["d","MONDO:0009929","surfactant metabolism dysfunction, pulmonary, 1",1,"agreed"],["d","MONDO:0009930","pulmonary arteriovenous malformation",1,"single"],["d","MONDO:0009934","alveolar capillary dysplasia with misalignment of pulmonary veins",1,"agreed"],["d","MONDO:0009935","pulmonary hypertension, primary, 5",1,"single"],["d","MONDO:0009937","pulmonary venoocclusive disease",1,"ungraded"],["d","MONDO:0009940","pycnodysostosis",1,"agreed"],["d","MONDO:0009943","Pyle disease",1,"graded_apart"],["d","MONDO:0009945","pyridoxine-dependent epilepsy",2,"agreed"],["d","MONDO:0009946","hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",1,"agreed"],["d","MONDO:0009947","glutathione synthetase deficiency with 5-oxoprolinuria",1,"single"],["d","MONDO:0009948","pyropoikilocytosis, hereditary",1,"graded_apart"],["d","MONDO:0009949","pyruvate carboxylase deficiency disease",1,"agreed"],["d","MONDO:0009950","pyruvate kinase deficiency of red cells",1,"agreed"],["d","MONDO:0009953","leukocyte adhesion deficiency type II",1,"agreed"],["d","MONDO:0009954","Ramon syndrome",1,"ungraded"],["d","MONDO:0009955","rapadilino syndrome",1,"agreed"],["d","MONDO:0009958","adult Refsum disease",2,"agreed"],["d","MONDO:0009959","peroxisome biogenesis disorder type 3B",1,"single"],["d","MONDO:0009960","inflammatory bowel disease 1",1,"single"],["d","MONDO:0009964","short-rib thoracic dysplasia 9 with or without polydactyly",2,"agreed"],["d","MONDO:0009965","Perlman syndrome",1,"agreed"],["d","MONDO:0009966","NPHP3-related Meckel-like syndrome",1,"ungraded"],["d","MONDO:0009968","renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",2,"agreed"],["d","MONDO:0009970","renal tubular dysgenesis of genetic origin",4,"graded_apart"],["d","MONDO:0009973","reticular dysgenesis",1,"agreed"],["d","MONDO:0009977","Knobloch syndrome",1,"single"],["d","MONDO:0009979","reticular dystrophy of the retinal pigment epithelium",1,"ungraded"],["d","MONDO:0009984","late-adult onset retinitis pigmentosa",1,"single"],["d","MONDO:0009990","Revesz syndrome",1,"agreed"],["d","MONDO:0009992","myoglobinuria, acute recurrent, autosomal recessive",1,"agreed"],["d","MONDO:0009997","Roberts syndrome",1,"single"],["d","MONDO:0009998","Richieri Costa-Pereira syndrome",1,"graded_apart"],["d","MONDO:0009999","autosomal recessive Robinow syndrome",2,"agreed"],["d","MONDO:0010002","Rothmund-Thomson syndrome",1,"single"],["d","MONDO:0010004","EEC syndrome",1,"ungraded"],["d","MONDO:0010006","Sandhoff disease",1,"agreed"],["d","MONDO:0010008","sarcosinemia",1,"graded_apart"],["d","MONDO:0010010","Schinzel-Giedion syndrome",1,"agreed"],["d","MONDO:0010011","schizencephaly",1,"graded_apart"],["d","MONDO:0010013","schneckenbecken dysplasia",2,"agreed"],["d","MONDO:0010015","anterior segment dysgenesis 7",2,"graded_apart"],["d","MONDO:0010016","sclerosteosis 1",1,"agreed"],["d","MONDO:0010017","sea-blue histiocyte syndrome",1,"single"],["d","MONDO:0010020","congenital generalized lipodystrophy type 2",1,"agreed"],["d","MONDO:0010023","combined immunodeficiency due to ZAP70 deficiency",1,"agreed"],["d","MONDO:0010024","Beemer-Langer syndrome",1,"ungraded"],["d","MONDO:0010026","SHORT syndrome",1,"graded_apart"],["d","MONDO:0010027","free sialic acid storage disease, infantile form",1,"agreed"],["d","MONDO:0010028","sialuria",1,"disputed"],["d","MONDO:0010029","situs inversus",7,"single"],["d","MONDO:0010031","Sjogren-Larsson syndrome",1,"agreed"],["d","MONDO:0010035","Smith-Lemli-Opitz syndrome",1,"agreed"],["d","MONDO:0010036","congenital secretory sodium diarrhea 3",1,"graded_apart"],["d","MONDO:0010038","growth delay due to insulin-like growth factor I resistance",1,"agreed"],["d","MONDO:0010041","Charlevoix-Saguenay spastic ataxia",1,"agreed"],["d","MONDO:0010043","hereditary spastic paraplegia 17",1,"agreed"],["d","MONDO:0010044","hereditary spastic paraplegia 15",1,"agreed"],["d","MONDO:0010046","hereditary spastic paraplegia 23",1,"graded_apart"],["d","MONDO:0010047","hereditary spastic paraplegia 5A",1,"agreed"],["d","MONDO:0010052","spermatogenic failure 4",1,"single"],["d","MONDO:0010053","hereditary spherocytosis type 3",1,"agreed"],["d","MONDO:0010056","spinal muscular atrophy, type IV",1,"agreed"],["d","MONDO:0010060","mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",1,"agreed"],["d","MONDO:0010061","autosomal recessive cerebellar ataxia-blindness-deafness syndrome",1,"ungraded"],["d","MONDO:0010066","familial isolated congenital asplenia",2,"agreed"],["d","MONDO:0010068","spondyloepimetaphyseal dysplasia, sponastrime type",1,"agreed"],["d","MONDO:0010075","spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",1,"agreed"],["d","MONDO:0010077","spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome",1,"graded_apart"],["d","MONDO:0010078","spondyloperipheral dysplasia",1,"single"],["d","MONDO:0010079","Canavan disease",1,"agreed"],["d","MONDO:0010080","familial infantile bilateral striatal necrosis",3,"disputed"],["d","MONDO:0010083","succinic semialdehyde dehydrogenase deficiency",1,"agreed"],["d","MONDO:0010088","mucosulfatidosis",1,"agreed"],["d","MONDO:0010089","isolated sulfite oxidase deficiency",1,"agreed"],["d","MONDO:0010091","Cold-induced sweating syndrome 1",2,"agreed"],["d","MONDO:0010092","Filippi syndrome",1,"graded_apart"],["d","MONDO:0010094","spondylocarpotarsal synostosis syndrome",2,"agreed"],["d","MONDO:0010099","Tay-Sachs disease AB variant",1,"agreed"],["d","MONDO:0010100","Tay-Sachs disease",1,"agreed"],["d","MONDO:0010107","testicular regression syndrome",1,"ungraded"],["d","MONDO:0010110","tetraamelia-multiple malformations syndrome",2,"ungraded"],["d","MONDO:0010117","3M syndrome 1",1,"agreed"],["d","MONDO:0010119","Glanzmann's thrombasthenia",2,"single"],["d","MONDO:0010120","thrombocytopenia 3",1,"graded_apart"],["d","MONDO:0010121","thrombocytopenia-absent radius syndrome",1,"agreed"],["d","MONDO:0010122","congenital thrombotic thrombocytopenic purpura",1,"agreed"],["d","MONDO:0010130","dihydropyrimidine dehydrogenase deficiency",1,"agreed"],["d","MONDO:0010131","thyroid hormone resistance, generalized, autosomal recessive",1,"single"],["d","MONDO:0010132","familial thyroid dyshormonogenesis",6,"ungraded"],["d","MONDO:0010133","thyroid dyshormonogenesis 2A",1,"agreed"],["d","MONDO:0010134","Pendred syndrome",3,"agreed"],["d","MONDO:0010135","thyroid dyshormonogenesis 3",1,"agreed"],["d","MONDO:0010136","thyroid dyshormonogenesis 4",1,"agreed"],["d","MONDO:0010137","thyroid dyshormonogenesis 5",1,"graded_apart"],["d","MONDO:0010139","isolated thyroid-stimulating hormone deficiency",1,"agreed"],["d","MONDO:0010142","hypothyroidism due to TSH receptor mutations",1,"agreed"],["d","MONDO:0010143","lethal restrictive dermopathy",2,"agreed"],["d","MONDO:0010144","tibial hemimelia",1,"ungraded"],["d","MONDO:0010149","transcobalamin II deficiency",1,"agreed"],["d","MONDO:0010150","head and neck squamous cell carcinoma",2,"agreed"],["d","MONDO:0010152","trichomegaly-retina pigmentary degeneration-dwarfism syndrome",1,"ungraded"],["d","MONDO:0010155","Dorfman-Chanarin disease",1,"agreed"],["d","MONDO:0010156","Troyer syndrome",1,"single"],["d","MONDO:0010159","mismatch repair cancer syndrome 1",4,"agreed"],["d","MONDO:0010160","tyrosinemia type II",1,"agreed"],["d","MONDO:0010161","tyrosinemia type I",1,"agreed"],["d","MONDO:0010162","tyrosinemia type III",1,"agreed"],["d","MONDO:0010164","phocomelia, Schinzel type",1,"single"],["d","MONDO:0010167","urocanic aciduria",1,"graded_apart"],["d","MONDO:0010168","Usher syndrome type 1",7,"agreed"],["d","MONDO:0010169","Usher syndrome type 2A",1,"agreed"],["d","MONDO:0010170","Usher syndrome type 3A",1,"agreed"],["d","MONDO:0010171","Usher syndrome type 1C",1,"agreed"],["d","MONDO:0010172","VACTERL with hydrocephalus",1,"ungraded"],["d","MONDO:0010176","orofaciodigital syndrome type 6",8,"agreed"],["d","MONDO:0010178","congenital bilateral aplasia of vas deferens from CFTR mutation",1,"single"],["d","MONDO:0010180","autosomal recessive spondylocostal dysostosis",5,"ungraded"],["d","MONDO:0010183","methylmalonic aciduria and homocystinuria type cblF",1,"agreed"],["d","MONDO:0010184","methylmalonic aciduria and homocystinuria type cblC",2,"agreed"],["d","MONDO:0010185","methylmalonic aciduria and homocystinuria type cblD",1,"graded_apart"],["d","MONDO:0010186","vitamin D-dependent rickets, type 2A",1,"agreed"],["d","MONDO:0010187","vitamin K-dependent clotting factors, combined deficiency of, type 1",2,"agreed"],["d","MONDO:0010188","familial isolated deficiency of vitamin E",1,"agreed"],["d","MONDO:0010190","pontocerebellar hypoplasia type 2A",1,"single"],["d","MONDO:0010191","von Willebrand disease 3",1,"single"],["d","MONDO:0010192","Waardenburg syndrome type 4A",1,"graded_apart"],["d","MONDO:0010193","Weaver syndrome",2,"agreed"],["d","MONDO:0010194","Weill-Marchesani syndrome 1",1,"graded_apart"],["d","MONDO:0010196","Werner syndrome",1,"agreed"],["d","MONDO:0010200","Wilson disease",1,"agreed"],["d","MONDO:0010201","Winchester syndrome",1,"graded_apart"],["d","MONDO:0010204","lysosomal acid lipase deficiency",1,"agreed"],["d","MONDO:0010206","hypotrichosis 8",1,"agreed"],["d","MONDO:0010208","wrinkly skin syndrome",1,"agreed"],["d","MONDO:0010209","xanthinuria type I",1,"graded_apart"],["d","MONDO:0010210","xeroderma pigmentosum group A",1,"agreed"],["d","MONDO:0010211","xeroderma pigmentosum group C",1,"agreed"],["d","MONDO:0010212","xeroderma pigmentosum group D",1,"agreed"],["d","MONDO:0010213","xeroderma pigmentosum group E",1,"agreed"],["d","MONDO:0010214","xeroderma pigmentosum variant type",1,"agreed"],["d","MONDO:0010215","xeroderma pigmentosum group F",1,"agreed"],["d","MONDO:0010216","xeroderma pigmentosum group G",1,"agreed"],["d","MONDO:0010221","CHIME syndrome",1,"disputed"],["d","MONDO:0010222","X-linked Opitz G/BBB syndrome",1,"agreed"],["d","MONDO:0010224","corpus callosum agenesis-abnormal genitalia syndrome",1,"ungraded"],["d","MONDO:0010225","Dent disease type 1",1,"agreed"],["d","MONDO:0010226","46,XY sex reversal 2",1,"single"],["d","MONDO:0010227","retinitis pigmentosa 3",1,"agreed"],["d","MONDO:0010232","intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",1,"agreed"],["d","MONDO:0010233","heterotopia, periventricular, X-linked dominant",1,"agreed"],["d","MONDO:0010235","X-linked intellectual disability-psychosis-macroorchidism syndrome",1,"ungraded"],["d","MONDO:0010238","hearing loss, X-linked 4",1,"agreed"],["d","MONDO:0010239","lissencephaly type 1 due to doublecortin gene mutation",1,"agreed"],["d","MONDO:0010241","congenital stationary night blindness 2A",1,"single"],["d","MONDO:0010246","developmental and epileptic encephalopathy, 9",1,"agreed"],["d","MONDO:0010247","X-linked cerebral adrenoleukodystrophy",1,"single"],["d","MONDO:0010248","X-linked spondyloepimetaphyseal dysplasia",1,"disputed"],["d","MONDO:0010250","intellectual disability, X-linked 49",1,"agreed"],["d","MONDO:0010251","intellectual disability, X-linked 50",1,"single"],["d","MONDO:0010252","intellectual disability, X-linked, with panhypopituitarism",1,"disputed"],["d","MONDO:0010256","intellectual disability, X-linked 21",1,"agreed"],["d","MONDO:0010258","MEHMO syndrome",1,"agreed"],["d","MONDO:0010261","microphthalmia, syndromic 2",1,"disputed"],["d","MONDO:0010263","Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",1,"ungraded"],["d","MONDO:0010264","X-linked adrenal hypoplasia congenita",1,"agreed"],["d","MONDO:0010265","Simpson-Golabi-Behmel syndrome type 2",1,"single"],["d","MONDO:0010266","intellectual disability, X-linked 58",1,"graded_apart"],["d","MONDO:0010268","X-linked lissencephaly with abnormal genitalia",1,"graded_apart"],["d","MONDO:0010272","syndromic X-linked intellectual disability type 10",1,"ungraded"],["d","MONDO:0010275","spondyloepimetaphyseal dysplasia, Bieganski type",1,"agreed"],["d","MONDO:0010277","syndromic X-linked intellectual disability Shashi type",1,"graded_apart"],["d","MONDO:0010278","Christianson syndrome",1,"agreed"],["d","MONDO:0010279","terminal osseous dysplasia-pigmentary defects syndrome",1,"agreed"],["d","MONDO:0010281","Danon disease",1,"agreed"],["d","MONDO:0010283","syndromic X-linked intellectual disability Lubs type",1,"single"],["d","MONDO:0010284","Armfield syndrome",1,"graded_apart"],["d","MONDO:0010286","syndromic X-linked intellectual disability Siderius type",1,"agreed"],["d","MONDO:0010289","intellectual disability, X-linked 72",1,"graded_apart"],["d","MONDO:0010293","ectodermal dysplasia and immune deficiency",2,"ungraded"],["d","MONDO:0010294","X-linked severe congenital neutropenia",1,"graded_apart"],["d","MONDO:0010295","anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",1,"ungraded"],["d","MONDO:0010296","immunodeficiency 61",1,"graded_apart"],["d","MONDO:0010298","Lesch-Nyhan syndrome",1,"agreed"],["d","MONDO:0010299","hypoxanthine guanine phosphoribosyltransferase partial deficiency",1,"agreed"],["d","MONDO:0010305","creatine transporter deficiency",1,"agreed"],["d","MONDO:0010306","X-linked intellectual disability, Cabezas type",1,"agreed"],["d","MONDO:0010308","thrombocytopenia, X-linked, with or without dyserythropoietic anemia",1,"graded_apart"],["d","MONDO:0010310","osteopathia striata with cranial sclerosis",1,"agreed"],["d","MONDO:0010311","Becker muscular dystrophy",1,"single"],["d","MONDO:0010313","intellectual disability, X-linked 63",1,"graded_apart"],["d","MONDO:0010314","polymicrogyria, bilateral perisylvian, X-linked",2,"single"],["d","MONDO:0010315","T-B+ severe combined immunodeficiency due to gamma chain deficiency",1,"agreed"],["d","MONDO:0010317","intellectual disability, X-linked, with or without seizures, ARX-related",1,"single"],["d","MONDO:0010318","FG syndrome 4",1,"agreed"],["d","MONDO:0010319","syndromic X-linked intellectual disability Hedera type",1,"disputed"],["d","MONDO:0010320","retinitis pigmentosa 23",1,"agreed"],["d","MONDO:0010321","autism, susceptibility to, X-linked 1",1,"disputed"],["d","MONDO:0010325","X-linked intellectual disability, Stocco dos Santos type",1,"single"],["d","MONDO:0010326","intellectual disability, X-linked 46",1,"agreed"],["d","MONDO:0010327","HSD10 mitochondrial disease",1,"agreed"],["d","MONDO:0010330","primary ciliary dyskinesia-retinitis pigmentosa syndrome",1,"single"],["d","MONDO:0010333","corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",1,"agreed"],["d","MONDO:0010334","severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",1,"agreed"],["d","MONDO:0010335","X-linked cone-rod dystrophy 3",1,"single"],["d","MONDO:0010337","X-linked intellectual disability-cerebellar hypoplasia syndrome",1,"agreed"],["d","MONDO:0010338","X-linked distal spinal muscular atrophy type 3",1,"graded_apart"],["d","MONDO:0010339","epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",1,"graded_apart"],["d","MONDO:0010341","autism, susceptibility to, X-linked 2",1,"agreed"],["d","MONDO:0010344","intellectual disability, X-linked 45",1,"single"],["d","MONDO:0010349","ovarian dysgenesis 2",1,"graded_apart"],["d","MONDO:0010350","premature ovarian failure 2A",1,"single"],["d","MONDO:0010351","Fanconi anemia complementation group B",1,"agreed"],["d","MONDO:0010354","Allan-Herndon-Dudley syndrome",1,"agreed"],["d","MONDO:0010355","syndromic X-linked intellectual disability Claes-Jensen type",1,"agreed"],["d","MONDO:0010356","nephrogenic syndrome of inappropriate antidiuresis",1,"graded_apart"],["d","MONDO:0010359","Dent disease type 2",1,"agreed"],["d","MONDO:0010361","intellectual disability, X-linked 30",1,"graded_apart"],["d","MONDO:0010362","glycogen storage disease IXd",1,"agreed"],["d","MONDO:0010363","intellectual disability, X-linked 91",1,"agreed"],["d","MONDO:0010367","SHOX-related short stature",1,"ungraded"],["d","MONDO:0010370","Cornelia de Lange syndrome 2",1,"agreed"],["d","MONDO:0010371","Aland island eye disease",1,"agreed"],["d","MONDO:0010373","premature ovarian failure 2B",1,"graded_apart"],["d","MONDO:0010375","developmental and epileptic encephalopathy, 8",1,"agreed"],["d","MONDO:0010378","X-linked hereditary sensory and autonomic neuropathy with hearing loss",1,"agreed"],["d","MONDO:0010379","Brunner syndrome",1,"agreed"],["d","MONDO:0010382","fragile X-associated tremor/ataxia syndrome",1,"agreed"],["d","MONDO:0010383","fragile X syndrome",1,"agreed"],["d","MONDO:0010385","X-linked lymphoproliferative disease due to XIAP deficiency",1,"agreed"],["d","MONDO:0010388","rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked",1,"agreed"],["d","MONDO:0010389","X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency",1,"single"],["d","MONDO:0010392","glycogen storage disease due to phosphoglycerate kinase 1 deficiency",1,"agreed"],["d","MONDO:0010393","intellectual disability, X-linked 93",1,"graded_apart"],["d","MONDO:0010395","phosphoribosylpyrophosphate synthetase superactivity",1,"disputed"],["d","MONDO:0010396","developmental and epileptic encephalopathy, 2",1,"agreed"],["d","MONDO:0010397","severe neonatal-onset encephalopathy with microcephaly",1,"single"],["d","MONDO:0010398","syndromic X-linked intellectual disability 14",1,"graded_apart"],["d","MONDO:0010400","X-linked scapuloperoneal muscular dystrophy",1,"ungraded"],["d","MONDO:0010401","X-linked myopathy with postural muscle atrophy",1,"agreed"],["d","MONDO:0010402","syndromic X-linked intellectual disability 94",1,"disputed"],["d","MONDO:0010404","X-linked non progressive cerebellar ataxia",1,"ungraded"],["d","MONDO:0010407","intellectual disability, X-linked syndromic, Turner type",1,"agreed"],["d","MONDO:0010408","syndactyly-telecanthus-anogenital and renal malformations syndrome",1,"graded_apart"],["d","MONDO:0010413","intellectual disability, X-linked 95",1,"single"],["d","MONDO:0010414","myopathy, reducing body, X-linked, early-onset, severe",1,"single"],["d","MONDO:0010417","syndromic X-linked intellectual disability Najm type",1,"agreed"],["d","MONDO:0010420","X-linked erythropoietic protoporphyria",1,"agreed"],["d","MONDO:0010421","Bruton-type agammaglobulinemia",1,"agreed"],["d","MONDO:0010423","hypospadias 2, X-linked",1,"agreed"],["d","MONDO:0010424","surfactant metabolism dysfunction, pulmonary, 4",1,"agreed"],["d","MONDO:0010425","Lisch epithelial corneal dystrophy",1,"disputed"],["d","MONDO:0010427","syndromic X-linked intellectual disability Raymond type",1,"agreed"],["d","MONDO:0010429","intellectual disability, X-linked 96",1,"disputed"],["d","MONDO:0010430","intellectual disability, X-linked 97",1,"agreed"],["d","MONDO:0010431","Joubert syndrome 10",1,"agreed"],["d","MONDO:0010432","thrombophilia, X-linked, due to factor 9 defect",1,"disputed"],["d","MONDO:0010435","nystagmus 6, congenital, X-linked",1,"single"],["d","MONDO:0010437","severe X-linked mitochondrial encephalomyopathy",1,"agreed"],["d","MONDO:0010440","autism, susceptibility to, X-linked 4",1,"agreed"],["d","MONDO:0010441","CK syndrome",1,"graded_apart"],["d","MONDO:0010442","46,XX sex reversal 3",1,"single"],["d","MONDO:0010443","macular degeneration, X-linked atrophic",1,"single"],["d","MONDO:0010444","X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",1,"ungraded"],["d","MONDO:0010447","intellectual disability, X-linked 19",1,"single"],["d","MONDO:0010449","autism, susceptibility to, X-linked 5",1,"agreed"],["d","MONDO:0010451","intellectual disability, X-linked 41",1,"disputed"],["d","MONDO:0010452","intellectual disability, X-linked 90",1,"agreed"],["d","MONDO:0010455","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",1,"agreed"],["d","MONDO:0010457","Ogden syndrome",1,"agreed"],["d","MONDO:0010459","amyotrophic lateral sclerosis type 15",1,"graded_apart"],["d","MONDO:0010461","syndromic X-linked intellectual disability Nascimento type",1,"agreed"],["d","MONDO:0010463","X-linked dominant chondrodysplasia, Chassaing-Lacombe type",1,"graded_apart"],["d","MONDO:0010465","Kabuki syndrome 2",1,"agreed"],["d","MONDO:0010466","multiple congenital anomalies-hypotonia-seizures syndrome 2",1,"graded_apart"],["d","MONDO:0010469","epsilon-trimethyllysine hydroxylase deficiency",1,"agreed"],["d","MONDO:0010471","Cornelia de Lange syndrome 5",1,"agreed"],["d","MONDO:0010472","developmental and epileptic encephalopathy, 36",1,"agreed"],["d","MONDO:0010473","X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome",1,"graded_apart"],["d","MONDO:0010474","linear skin defects with multiple congenital anomalies 2",1,"agreed"],["d","MONDO:0010475","X-linked central congenital hypothyroidism with late-onset testicular enlargement",1,"agreed"],["d","MONDO:0010476","neurodegeneration with brain iron accumulation 5",1,"graded_apart"],["d","MONDO:0010477","blepharophimosis - intellectual disability syndrome, MKB type",1,"single"],["d","MONDO:0010478","SLC35A2-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0010479","Charcot-Marie-Tooth disease X-linked dominant 6",1,"disputed"],["d","MONDO:0010480","anemia, nonspherocytic hemolytic, due to G6PD deficiency",1,"agreed"],["d","MONDO:0010482","X-linked parkinsonism-spasticity syndrome",1,"disputed"],["d","MONDO:0010483","X-linked intellectual disability, Cantagrel type",1,"agreed"],["d","MONDO:0010484","hearing loss, X-linked 6",1,"disputed"],["d","MONDO:0010485","X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",1,"agreed"],["d","MONDO:0010486","Olmsted syndrome, X-linked",1,"disputed"],["d","MONDO:0010487","intellectual disability, X-linked 99",1,"agreed"],["d","MONDO:0010488","intellectual disability, X-linked 100",1,"disputed"],["d","MONDO:0010489","intellectual disability, X-linked 101",1,"single"],["d","MONDO:0010490","SSR4-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0010492","pituitary adenoma, growth hormone-secreting, 2",1,"single"],["d","MONDO:0010493","Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",1,"agreed"],["d","MONDO:0010494","linear skin defects with multiple congenital anomalies 3",1,"single"],["d","MONDO:0010495","trichothiodystrophy 5, nonphotosensitive",1,"disputed"],["d","MONDO:0010496","X-linked intellectual disability-short stature-overweight syndrome",1,"graded_apart"],["d","MONDO:0010497","intellectual disability, X-linked 102",1,"agreed"],["d","MONDO:0010498","MEND syndrome",1,"graded_apart"],["d","MONDO:0010499","Ritscher-Schinzel syndrome 2",1,"disputed"],["d","MONDO:0010500","intellectual disability, X-linked, syndromic 33",1,"agreed"],["d","MONDO:0010501","syndromic X-linked intellectual disability 34",1,"agreed"],["d","MONDO:0010502","intellectual disability, X-linked 99, syndromic, female-restricted",1,"agreed"],["d","MONDO:0010503","Bartter disease type 5",1,"agreed"],["d","MONDO:0010504","immunodeficiency 47",1,"disputed"],["d","MONDO:0010506","intellectual disability, X-linked 61",1,"graded_apart"],["d","MONDO:0010507","Xq25 microduplication syndrome",1,"single"],["d","MONDO:0010508","intellectual disability, X-linked 103",1,"disputed"],["d","MONDO:0010509","intellectual disability, X-linked 104",1,"graded_apart"],["d","MONDO:0010510","intellectual disability, X-linked 105",1,"agreed"],["d","MONDO:0010512","intellectual disability, X-linked, syndromic, Bain type",1,"agreed"],["d","MONDO:0010514","combined immunodeficiency due to moesin deficiency",1,"graded_apart"],["d","MONDO:0010515","Meester-Loeys syndrome",1,"disputed"],["d","MONDO:0010516","midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",1,"graded_apart"],["d","MONDO:0010517","ciliary dyskinesia, primary, 36, X-linked",1,"agreed"],["d","MONDO:0010518","Wiskott-Aldrich syndrome",1,"agreed"],["d","MONDO:0010519","alpha thalassemia-X-linked intellectual disability syndrome",1,"agreed"],["d","MONDO:0010520","X-linked Alport syndrome",1,"agreed"],["d","MONDO:0010521","amelogenesis imperfecta type 1E",1,"agreed"],["d","MONDO:0010523","X-linked reticulate pigmentary disorder",1,"graded_apart"],["d","MONDO:0010524","X-linked sideroblastic anemia with ataxia",1,"graded_apart"],["d","MONDO:0010526","Fabry disease",1,"agreed"],["d","MONDO:0010528","anosmia",2,"single"],["d","MONDO:0010532","infantile-onset X-linked spinal muscular atrophy",1,"graded_apart"],["d","MONDO:0010533","Arts syndrome",1,"agreed"],["d","MONDO:0010537","Borjeson-Forssman-Lehmann syndrome",1,"agreed"],["d","MONDO:0010542","dilated cardiomyopathy 3B",1,"agreed"],["d","MONDO:0010543","Barth syndrome",1,"agreed"],["d","MONDO:0010545","Nance-Horan syndrome",1,"graded_apart"],["d","MONDO:0010547","X-linked progressive cerebellar ataxia",2,"graded_apart"],["d","MONDO:0010549","Charcot-Marie-Tooth disease X-linked dominant 1",1,"agreed"],["d","MONDO:0010554","Abruzzo-Erickson syndrome",1,"single"],["d","MONDO:0010555","X-linked chondrodysplasia punctata 1",1,"agreed"],["d","MONDO:0010557","choroideremia",1,"agreed"],["d","MONDO:0010558","choroideremia-deafness-obesity syndrome",1,"ungraded"],["d","MONDO:0010559","MASA syndrome",1,"single"],["d","MONDO:0010560","cleft palate with or without ankyloglossia, X-linked",1,"agreed"],["d","MONDO:0010561","Coffin-Lowry syndrome",1,"agreed"],["d","MONDO:0010563","blue cone monochromacy",2,"disputed"],["d","MONDO:0010564","red-green color blindness",1,"agreed"],["d","MONDO:0010565","red color blindness",1,"agreed"],["d","MONDO:0010568","Aicardi syndrome",2,"single"],["d","MONDO:0010569","X-linked complicated corpus callosum dysgenesis",1,"agreed"],["d","MONDO:0010570","craniofrontonasal syndrome",1,"agreed"],["d","MONDO:0010571","otopalatodigital syndrome type 2",1,"graded_apart"],["d","MONDO:0010572","occipital horn syndrome",1,"agreed"],["d","MONDO:0010574","syndromic X-linked intellectual disability 5",1,"graded_apart"],["d","MONDO:0010576","X-linked mixed hearing loss with perilymphatic gusher",1,"agreed"],["d","MONDO:0010577","hearing loss, X-linked 1",1,"single"],["d","MONDO:0010578","deafness dystonia syndrome",1,"agreed"],["d","MONDO:0010580","immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",1,"agreed"],["d","MONDO:0010581","diabetes insipidus, nephrogenic, X-linked",1,"agreed"],["d","MONDO:0010584","dyskeratosis congenita, X-linked",1,"agreed"],["d","MONDO:0010585","X-linked hypohidrotic ectodermal dysplasia",2,"agreed"],["d","MONDO:0010586","X-linked Ehlers-Danlos syndrome",1,"ungraded"],["d","MONDO:0010588","exudative vitreoretinopathy 2, X-linked",1,"agreed"],["d","MONDO:0010589","Aarskog-Scott syndrome, X-linked",1,"agreed"],["d","MONDO:0010590","FG syndrome 1",1,"agreed"],["d","MONDO:0010592","focal dermal hypoplasia",1,"agreed"],["d","MONDO:0010598","glycogen storage disease IXa1",1,"agreed"],["d","MONDO:0010600","granulomatous disease, chronic, X-linked",1,"agreed"],["d","MONDO:0010602","hemophilia A",1,"agreed"],["d","MONDO:0010604","hemophilia B",1,"agreed"],["d","MONDO:0010606","hernia, anterior diaphragmatic",1,"graded_apart"],["d","MONDO:0010607","heterotaxy, visceral, 1, X-linked",1,"graded_apart"],["d","MONDO:0010610","holoprosencephaly-hypokinesia-congenital contractures syndrome",1,"graded_apart"],["d","MONDO:0010611","X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",1,"agreed"],["d","MONDO:0010613","inborn glycerol kinase deficiency",1,"agreed"],["d","MONDO:0010614","X-linked congenital generalized hypertrichosis",1,"ungraded"],["d","MONDO:0010615","isolated growth hormone deficiency type III",1,"disputed"],["d","MONDO:0010618","familial isolated hypoparathyroidism due to agenesis of parathyroid gland",1,"ungraded"],["d","MONDO:0010619","X-linked dominant hypophosphatemic rickets",1,"agreed"],["d","MONDO:0010621","CHILD syndrome",1,"agreed"],["d","MONDO:0010622","recessive X-linked ichthyosis",2,"agreed"],["d","MONDO:0010626","hyper-IgM syndrome type 1",1,"agreed"],["d","MONDO:0010631","incontinentia pigmenti",1,"agreed"],["d","MONDO:0010632","developmental and epileptic encephalopathy, 1",1,"single"],["d","MONDO:0010635","hypogonadotropic hypogonadism 1 with or without anosmia",1,"agreed"],["d","MONDO:0010637","keratosis follicularis spinulosa decalvans, X-linked",1,"single"],["d","MONDO:0010645","oculocerebrorenal syndrome",1,"agreed"],["d","MONDO:0010647","spermatogenic failure, X-linked, 2",1,"graded_apart"],["d","MONDO:0010649","isolated congenital megalocornea",1,"agreed"],["d","MONDO:0010650","Melnick-Needles syndrome",1,"agreed"],["d","MONDO:0010651","Menkes disease",1,"agreed"],["d","MONDO:0010653","Renpenning syndrome",1,"agreed"],["d","MONDO:0010654","Partington syndrome",1,"ungraded"],["d","MONDO:0010655","X-linked intellectual disability with marfanoid habitus",3,"agreed"],["d","MONDO:0010656","intellectual disability, X-linked 1",1,"agreed"],["d","MONDO:0010657","methylmalonic acidemia with homocystinuria, type cblX",1,"graded_apart"],["d","MONDO:0010659","FRAXE intellectual disability",1,"agreed"],["d","MONDO:0010660","intellectual disability, X-linked 9",1,"agreed"],["d","MONDO:0010661","severe X-linked intellectual disability, Gustavson type",1,"single"],["d","MONDO:0010663","intellectual disability-hypotonic facies syndrome, X-linked, 1",1,"single"],["d","MONDO:0010664","syndromic X-linked intellectual disability Snyder type",1,"agreed"],["d","MONDO:0010665","Wilson-Turner syndrome",2,"disputed"],["d","MONDO:0010667","Prieto syndrome",1,"graded_apart"],["d","MONDO:0010669","syndactyly type 8",1,"agreed"],["d","MONDO:0010671","microphthalmia, syndromic 1",1,"graded_apart"],["d","MONDO:0010672","linear skin defects with multiple congenital anomalies",3,"ungraded"],["d","MONDO:0010674","mucopolysaccharidosis type 2",1,"agreed"],["d","MONDO:0010679","Duchenne muscular dystrophy",1,"agreed"],["d","MONDO:0010680","X-linked Emery-Dreifuss muscular dystrophy",2,"agreed"],["d","MONDO:0010683","X-linked myotubular myopathy",1,"graded_apart"],["d","MONDO:0010684","X-linked myopathy with excessive autophagy",1,"agreed"],["d","MONDO:0010689","Charcot-Marie-Tooth disease X-linked recessive 4",1,"agreed"],["d","MONDO:0010690","congenital stationary night blindness 1A",1,"agreed"],["d","MONDO:0010691","Norrie disease",1,"agreed"],["d","MONDO:0010693","nystagmus 1, congenital, X-linked",1,"agreed"],["d","MONDO:0010699","Charcot-Marie-Tooth disease X-linked recessive 5",1,"single"],["d","MONDO:0010702","orofaciodigital syndrome I",1,"agreed"],["d","MONDO:0010703","ornithine carbamoyltransferase deficiency",1,"agreed"],["d","MONDO:0010704","otopalatodigital syndrome type 1",1,"ungraded"],["d","MONDO:0010706","premature ovarian failure 1",2,"agreed"],["d","MONDO:0010709","early-onset parkinsonism-intellectual disability syndrome",1,"graded_apart"],["d","MONDO:0010711","TARP syndrome",1,"agreed"],["d","MONDO:0010712","panhypopituitarism, X-linked",1,"disputed"],["d","MONDO:0010713","properdin deficiency, X-linked",1,"single"],["d","MONDO:0010714","Pelizaeus-Merzbacher spectrum disorder",1,"agreed"],["d","MONDO:0010717","pyruvate dehydrogenase E1-alpha deficiency",3,"agreed"],["d","MONDO:0010720","partial androgen insensitivity syndrome",1,"single"],["d","MONDO:0010723","retinitis pigmentosa 2",1,"agreed"],["d","MONDO:0010725","X-linked retinoschisis",1,"agreed"],["d","MONDO:0010726","Rett syndrome",1,"agreed"],["d","MONDO:0010730","combined immunodeficiency, X-linked",1,"single"],["d","MONDO:0010731","Simpson-Golabi-Behmel syndrome",1,"single"],["d","MONDO:0010733","hereditary spastic paraplegia 2",1,"graded_apart"],["d","MONDO:0010735","Kennedy disease",1,"agreed"],["d","MONDO:0010737","spondyloepiphyseal dysplasia tarda, X-linked",1,"agreed"],["d","MONDO:0010740","taurodontism, microdontia, and dens invaginatus",1,"single"],["d","MONDO:0010741","tooth agenesis, selective, X-linked, 1",1,"agreed"],["d","MONDO:0010743","thrombocytopenia 1",1,"single"],["d","MONDO:0010745","beta-thalassemia-X-linked thrombocytopenia syndrome",1,"single"],["d","MONDO:0010747","X-linked dystonia-parkinsonism",1,"disputed"],["d","MONDO:0010752","VACTERL association, X-linked, with or without hydrocephalus",2,"graded_apart"],["d","MONDO:0010753","cardiac valvular dysplasia, X-linked",1,"graded_apart"],["d","MONDO:0010758","Wieacker-Wolff syndrome",1,"agreed"],["d","MONDO:0010765","46,XY complete gonadal dysgenesis",7,"ungraded"],["d","MONDO:0010766","46,XX sex reversal 1",4,"single"],["d","MONDO:0010779","mitochondrial non-syndromic sensorineural hearing loss",2,"ungraded"],["d","MONDO:0010780","mitochondrial myopathy with reversible cytochrome C oxidase deficiency",1,"ungraded"],["d","MONDO:0010785","maternally-inherited diabetes and deafness",1,"single"],["d","MONDO:0010787","Kearns-Sayre syndrome",1,"ungraded"],["d","MONDO:0010788","Leber hereditary optic neuropathy",12,"single"],["d","MONDO:0010789","MELAS syndrome",6,"ungraded"],["d","MONDO:0010790","MERRF syndrome",7,"single"],["d","MONDO:0010794","NARP syndrome",1,"single"],["d","MONDO:0010802","pancreatic hypoplasia-diabetes-congenital heart disease syndrome",2,"agreed"],["d","MONDO:0010803","Eiken syndrome",1,"disputed"],["d","MONDO:0010806","retinitis pigmentosa 13",1,"agreed"],["d","MONDO:0010807","autosomal recessive nonsyndromic hearing loss 2",1,"graded_apart"],["d","MONDO:0010808","fatal familial insomnia",1,"ungraded"],["d","MONDO:0010810","vitamin D hydroxylation-deficient rickets, type 1B",1,"single"],["d","MONDO:0010814","chondrodysplasia-pseudohermaphroditism syndrome",1,"agreed"],["d","MONDO:0010817","autosomal dominant nonsyndromic hearing loss 2A",1,"agreed"],["d","MONDO:0010818","retinitis pigmentosa 12",1,"agreed"],["d","MONDO:0010819","Stargardt disease 3",1,"agreed"],["d","MONDO:0010820","autosomal recessive juvenile Parkinson disease 2",1,"agreed"],["d","MONDO:0010822","Warburg micro syndrome 1",1,"agreed"],["d","MONDO:0010823","rhizomelic chondrodysplasia punctata type 3",1,"graded_apart"],["d","MONDO:0010826","childhood absence epilepsy",2,"ungraded"],["d","MONDO:0010827","retinitis pigmentosa 14",1,"agreed"],["d","MONDO:0010828","retinitis pigmentosa 11",1,"agreed"],["d","MONDO:0010829","cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2",1,"agreed"],["d","MONDO:0010830","neuronal ceroid lipofuscinosis 8",1,"agreed"],["d","MONDO:0010831","familial caudal dysgenesis",1,"single"],["d","MONDO:0010832","Bardet-Biedl syndrome 3",1,"agreed"],["d","MONDO:0010833","Hirschsprung disease, susceptibility to, 2",1,"single"],["d","MONDO:0010839","neuronopathy, distal hereditary motor, autosomal dominant 8",1,"ungraded"],["d","MONDO:0010842","multiple cutaneous and mucosal venous malformations",1,"agreed"],["d","MONDO:0010844","epiphyseal dysplasia, multiple, 2",1,"agreed"],["d","MONDO:0010847","spinocerebellar ataxia type 4",1,"graded_apart"],["d","MONDO:0010848","spinocerebellar ataxia type 5",1,"agreed"],["d","MONDO:0010849","palmoplantar keratoderma, Bothnian type",1,"graded_apart"],["d","MONDO:0010850","Tessier number 4 facial cleft",1,"agreed"],["d","MONDO:0010857","semantic dementia",2,"disputed"],["d","MONDO:0010860","autosomal recessive nonsyndromic hearing loss 3",1,"agreed"],["d","MONDO:0010863","type 1 diabetes mellitus 5",1,"single"],["d","MONDO:0010870","tibial muscular dystrophy",1,"graded_apart"],["d","MONDO:0010873","band heterotopia of brain",1,"graded_apart"],["d","MONDO:0010878","hereditary spastic paraplegia 6",1,"graded_apart"],["d","MONDO:0010879","CODAS syndrome",1,"agreed"],["d","MONDO:0010880","telangiectasia, hereditary hemorrhagic, type 2",1,"agreed"],["d","MONDO:0010886","2q37 microdeletion syndrome",1,"single"],["d","MONDO:0010894","maturity-onset diabetes of the young type 3",1,"agreed"],["d","MONDO:0010898","autosomal dominant epilepsy with auditory features",3,"agreed"],["d","MONDO:0010899","autosomal dominant nocturnal frontal lobe epilepsy 1",1,"agreed"],["d","MONDO:0010906","orofacial cleft 11",1,"disputed"],["d","MONDO:0010907","familial hypertryptophanemia",1,"agreed"],["d","MONDO:0010909","UV-sensitive syndrome 1",1,"single"],["d","MONDO:0010912","fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",1,"agreed"],["d","MONDO:0010913","Caroli disease",2,"single"],["d","MONDO:0010914","carnitine palmitoyl transferase II deficiency, severe infantile form",1,"ungraded"],["d","MONDO:0010915","autosomal dominant nonsyndromic hearing loss 4A",1,"agreed"],["d","MONDO:0010916","polycystic kidney disease 3 with or without polycystic liver disease",1,"agreed"],["d","MONDO:0010920","microtia",1,"ungraded"],["d","MONDO:0010924","D-2-hydroxyglutaric aciduria",2,"ungraded"],["d","MONDO:0010926","familial hypocalciuric hypercalcemia 3",1,"agreed"],["d","MONDO:0010927","orofacial cleft 3",1,"single"],["d","MONDO:0010929","craniosynostosis 4",1,"graded_apart"],["d","MONDO:0010932","progressive bifocal chorioretinal atrophy",1,"single"],["d","MONDO:0010933","autosomal recessive nonsyndromic hearing loss 4",2,"agreed"],["d","MONDO:0010936","frontotemporal dementia and/or amyotrophic lateral sclerosis 7",1,"graded_apart"],["d","MONDO:0010938","T-B+ severe combined immunodeficiency due to JAK3 deficiency",1,"agreed"],["d","MONDO:0010939","gallbladder disease 1",1,"agreed"],["d","MONDO:0010940","inherited susceptibility to asthma",2,"single"],["d","MONDO:0010945","retinitis pigmentosa 17",1,"single"],["d","MONDO:0010946","hypertrophic cardiomyopathy 6",1,"agreed"],["d","MONDO:0010948","cataract 10 multiple types",1,"agreed"],["d","MONDO:0010949","Charcot-Marie-Tooth disease type 2B",1,"agreed"],["d","MONDO:0010952","hereditary hyperferritinemia with congenital cataracts",1,"graded_apart"],["d","MONDO:0010953","Fanconi anemia complementation group E",1,"agreed"],["d","MONDO:0010958","cardiac arrhythmia, ankyrin-B-related",1,"agreed"],["d","MONDO:0010959","van den Ende-Gupta syndrome",1,"graded_apart"],["d","MONDO:0010961","obesity due to prohormone convertase I deficiency",1,"agreed"],["d","MONDO:0010962","diffuse nonepidermolytic palmoplantar keratoderma",1,"single"],["d","MONDO:0010963","autosomal dominant nonsyndromic hearing loss 6",1,"agreed"],["d","MONDO:0010964","epiphyseal dysplasia, multiple, 3",1,"graded_apart"],["d","MONDO:0010965","autosomal recessive nonsyndromic hearing loss 6",1,"graded_apart"],["d","MONDO:0010966","achondrogenesis type IB",1,"graded_apart"],["d","MONDO:0010967","autosomal recessive nonsyndromic hearing loss 7",1,"agreed"],["d","MONDO:0010969","cone-rod dystrophy 5",1,"disputed"],["d","MONDO:0010970","cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",1,"graded_apart"],["d","MONDO:0010973","autosomal dominant nonsyndromic hearing loss 5",1,"agreed"],["d","MONDO:0010974","nephrotic syndrome, type 2",1,"disputed"],["d","MONDO:0010975","arrhythmogenic right ventricular dysplasia 2",1,"disputed"],["d","MONDO:0010976","epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",1,"agreed"],["d","MONDO:0010977","Brody myopathy",1,"agreed"],["d","MONDO:0010979","Timothy syndrome",1,"agreed"],["d","MONDO:0010983","dystonia 9",1,"agreed"],["d","MONDO:0010984","Usher syndrome type 1D",2,"agreed"],["d","MONDO:0010985","epilepsy, familial adult myoclonic, 1",1,"disputed"],["d","MONDO:0010986","autosomal recessive nonsyndromic hearing loss 9",1,"agreed"],["d","MONDO:0010987","autosomal recessive nonsyndromic hearing loss 8",1,"agreed"],["d","MONDO:0010991","laterality defects, autosomal dominant",1,"single"],["d","MONDO:0010992","Ayme-Gripp syndrome",1,"agreed"],["d","MONDO:0010995","Charcot-Marie-Tooth disease type 1C",1,"agreed"],["d","MONDO:0010997","supranuclear palsy, progressive, 1",1,"single"],["d","MONDO:0010998","ALG3-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011001","Brugada syndrome 1",9,"agreed"],["d","MONDO:0011002","neuropathy, hereditary motor and sensory, type 6A",1,"single"],["d","MONDO:0011003","dilated cardiomyopathy 1E",1,"agreed"],["d","MONDO:0011006","hereditary spastic paraplegia 9A",1,"single"],["d","MONDO:0011010","microphthalmia, syndromic 9",1,"agreed"],["d","MONDO:0011013","autosomal dominant hypocalcemia 1",1,"agreed"],["d","MONDO:0011014","pleuropulmonary blastoma",1,"single"],["d","MONDO:0011017","Naxos disease",1,"agreed"],["d","MONDO:0011018","brachyolmia-amelogenesis imperfecta syndrome",1,"disputed"],["d","MONDO:0011022","Potocki-Shaffer syndrome",1,"single"],["d","MONDO:0011023","hereditary mixed polyposis syndrome",2,"agreed"],["d","MONDO:0011025","Cayman type cerebellar ataxia",1,"graded_apart"],["d","MONDO:0011026","autosomal recessive congenital ichthyosis 4A",1,"agreed"],["d","MONDO:0011028","autosomal recessive limb-girdle muscular dystrophy type 2F",1,"graded_apart"],["d","MONDO:0011031","autosomal dominant nonsyndromic hearing loss 10",1,"agreed"],["d","MONDO:0011032","autosomal dominant nonsyndromic hearing loss 11",1,"graded_apart"],["d","MONDO:0011035","neurofibromatosis-Noonan syndrome",2,"single"],["d","MONDO:0011037","renal dysplasia, cystic, susceptibility to",1,"graded_apart"],["d","MONDO:0011038","cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",1,"agreed"],["d","MONDO:0011042","Martinez-Frias syndrome",1,"single"],["d","MONDO:0011045","MMEP syndrome",1,"single"],["d","MONDO:0011049","Fine-Lubinsky syndrome",1,"ungraded"],["d","MONDO:0011053","intellectual disability-sparse hair-brachydactyly syndrome",1,"agreed"],["d","MONDO:0011054","autosomal recessive amelia",1,"disputed"],["d","MONDO:0011057","cerebrovascular disorder",1,"single"],["d","MONDO:0011058","autosomal dominant nonsyndromic hearing loss 9",1,"single"],["d","MONDO:0011060","early-onset non-syndromic cataract",3,"single"],["d","MONDO:0011066","Charcot-Marie-Tooth disease type 4B1",1,"agreed"],["d","MONDO:0011067","autosomal recessive nonsyndromic hearing loss 12",1,"agreed"],["d","MONDO:0011070","van Maldergem syndrome 1",1,"agreed"],["d","MONDO:0011071","hereditary thrombocytopenia and hematologic cancer predisposition syndrome",1,"single"],["d","MONDO:0011073","diabetes mellitus, transient neonatal, 1",1,"graded_apart"],["d","MONDO:0011074","autosomal dominant nonsyndromic hearing loss 7",1,"disputed"],["d","MONDO:0011075","retinitis pigmentosa 18",1,"graded_apart"],["d","MONDO:0011076","myofibrillar myopathy 1",1,"agreed"],["d","MONDO:0011085","Charcot-Marie-Tooth disease type 4D",1,"agreed"],["d","MONDO:0011086","severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",2,"agreed"],["d","MONDO:0011088","congenital myasthenic syndrome 1A",1,"agreed"],["d","MONDO:0011091","Charcot-Marie-Tooth disease type 2D",1,"agreed"],["d","MONDO:0011093","mucopolysaccharidosis type 9",1,"disputed"],["d","MONDO:0011094","dilated cardiomyopathy 1C",1,"disputed"],["d","MONDO:0011095","dilated cardiomyopathy 1D",1,"agreed"],["d","MONDO:0011096","autosomal agammaglobulinemia",8,"single"],["d","MONDO:0011098","prostate cancer, hereditary, 1",1,"agreed"],["d","MONDO:0011099","HOXA1-related syndrome",1,"graded_apart"],["d","MONDO:0011101","peroxisome biogenesis disorder 1B",1,"graded_apart"],["d","MONDO:0011102","autosomal dominant nonsyndromic hearing loss 12",1,"agreed"],["d","MONDO:0011103","autosomal dominant nonsyndromic hearing loss 3A",1,"agreed"],["d","MONDO:0011104","cataract 3 multiple types",1,"agreed"],["d","MONDO:0011106","facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",1,"agreed"],["d","MONDO:0011107","congenital hypotrichosis with juvenile macular dystrophy",1,"disputed"],["d","MONDO:0011108","Stüve-Wiedemann syndrome",1,"single"],["d","MONDO:0011112","Wilms tumor 5",1,"single"],["d","MONDO:0011113","Charcot-Marie-Tooth disease type 4C",1,"agreed"],["d","MONDO:0011114","familial multiple trichoepithelioma",1,"ungraded"],["d","MONDO:0011121","pheochromocytoma/paraganglioma syndrome 2",1,"graded_apart"],["d","MONDO:0011122","obesity disorder",2,"single"],["d","MONDO:0011125","trichothiodystrophy 1, photosensitive",2,"agreed"],["d","MONDO:0011128","Sheldon-hall syndrome",5,"ungraded"],["d","MONDO:0011132","T-cell immunodeficiency, congenital alopecia, and nail dystrophy",1,"agreed"],["d","MONDO:0011133","deaf blind hypopigmentation syndrome, Yemenite type",1,"single"],["d","MONDO:0011134","Curry-Jones syndrome",1,"agreed"],["d","MONDO:0011136","Quebec platelet disorder",1,"disputed"],["d","MONDO:0011137","retinitis pigmentosa 19",1,"single"],["d","MONDO:0011138","systemic lupus erythematosus, susceptibility to, 1",1,"single"],["d","MONDO:0011140","benign familial neonatal-infantile seizures",2,"ungraded"],["d","MONDO:0011141","megaloblastic anemia, folate-responsive",1,"single"],["d","MONDO:0011142","Ehlers-Danlos syndrome, musculocontractural type",2,"ungraded"],["d","MONDO:0011143","cone-rod dystrophy 6",1,"single"],["d","MONDO:0011144","ceroid lipofuscinosis, neuronal, 6A",1,"agreed"],["d","MONDO:0011150","acroosteolysis-keloid-like lesions-premature aging syndrome",1,"agreed"],["d","MONDO:0011151","exudative vitreoretinopathy 4",1,"agreed"],["d","MONDO:0011152","PHGDH deficiency",1,"agreed"],["d","MONDO:0011153","hyperinsulinemic hypoglycemia, familial, 2",1,"agreed"],["d","MONDO:0011155","vacuolar Neuromyopathy",1,"single"],["d","MONDO:0011156","progressive familial intrahepatic cholestasis type 2",1,"agreed"],["d","MONDO:0011158","autoimmune lymphoproliferative syndrome type 1",2,"disputed"],["d","MONDO:0011159","autosomal dominant nonsyndromic hearing loss 13",1,"disputed"],["d","MONDO:0011160","autosomal recessive nonsyndromic hearing loss 15",1,"graded_apart"],["d","MONDO:0011162","cataract 14 multiple types",1,"agreed"],["d","MONDO:0011163","malignant hyperthermia, susceptibility to, 5",1,"graded_apart"],["d","MONDO:0011165","glomerulopathy with fibronectin deposits 2",1,"graded_apart"],["d","MONDO:0011168","type 1 diabetes mellitus 10",1,"single"],["d","MONDO:0011169","keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome",1,"disputed"],["d","MONDO:0011170","autosomal recessive limb-girdle muscular dystrophy type 2G",1,"agreed"],["d","MONDO:0011173","thrombocythemia 2",1,"agreed"],["d","MONDO:0011174","hyperzincemia with functional zinc depletion",1,"single"],["d","MONDO:0011176","intestinal hypomagnesemia 1",2,"agreed"],["d","MONDO:0011177","ectodermal dysplasia 4, hair/nail type",1,"graded_apart"],["d","MONDO:0011178","infantile convulsions and choreoathetosis",1,"agreed"],["d","MONDO:0011181","fibrosis of extraocular muscles, congenital, 2",1,"agreed"],["d","MONDO:0011182","trimethylaminuria",1,"single"],["d","MONDO:0011183","Paget disease of bone 2, early-onset",1,"graded_apart"],["d","MONDO:0011184","childhood apraxia of speech",1,"agreed"],["d","MONDO:0011185","Thiel-Behnke corneal dystrophy",1,"single"],["d","MONDO:0011186","Usher syndrome type 1F",1,"agreed"],["d","MONDO:0011190","nephronophthisis 2",7,"agreed"],["d","MONDO:0011191","capillary infantile hemangioma",2,"single"],["d","MONDO:0011192","autosomal recessive nonsyndromic hearing loss 18A",1,"disputed"],["d","MONDO:0011193","cone dystrophy 3",1,"agreed"],["d","MONDO:0011196","amyotrophic lateral sclerosis type 5",1,"agreed"],["d","MONDO:0011198","spondyloepimetaphyseal dysplasia, Missouri type",1,"graded_apart"],["d","MONDO:0011211","axial spondylometaphyseal dysplasia",1,"single"],["d","MONDO:0011213","Pierpont syndrome",1,"graded_apart"],["d","MONDO:0011214","progressive familial intrahepatic cholestasis type 3",1,"agreed"],["d","MONDO:0011215","osteocraniostenosis",1,"single"],["d","MONDO:0011216","hemochromatosis type 2A",1,"agreed"],["d","MONDO:0011217","desmosterolosis",1,"agreed"],["d","MONDO:0011218","autosomal recessive congenital ichthyosis 11",2,"agreed"],["d","MONDO:0011223","amyotrophic lateral sclerosis type 4",1,"agreed"],["d","MONDO:0011225","severe combined immunodeficiency due to DCLRE1C deficiency",1,"agreed"],["d","MONDO:0011226","autosomal dominant nonsyndromic hearing loss 15",1,"agreed"],["d","MONDO:0011227","short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome",1,"graded_apart"],["d","MONDO:0011229","ethylmalonic encephalopathy",1,"agreed"],["d","MONDO:0011232","migraine, familial hemiplegic, 2",1,"agreed"],["d","MONDO:0011233","Axenfeld-Rieger syndrome type 3",1,"agreed"],["d","MONDO:0011234","auriculocondylar syndrome 1",1,"graded_apart"],["d","MONDO:0011236","hyperinsulinemic hypoglycemia, familial, 3",1,"agreed"],["d","MONDO:0011237","hyperlipidemia, combined, 1",1,"single"],["d","MONDO:0011239","colobomatous macrophthalmia-microcornea syndrome",1,"single"],["d","MONDO:0011240","megalencephaly-capillary malformation-polymicrogyria syndrome",1,"agreed"],["d","MONDO:0011242","Bartter disease type 4A",1,"agreed"],["d","MONDO:0011243","grange syndrome",1,"graded_apart"],["d","MONDO:0011244","Marshall-Smith syndrome",1,"graded_apart"],["d","MONDO:0011245","ichthyosis, hystrix-like, with hearing loss",1,"agreed"],["d","MONDO:0011246","megaconial type congenital muscular dystrophy",1,"single"],["d","MONDO:0011252","spondyloepimetaphyseal dysplasia, Shohat type",1,"agreed"],["d","MONDO:0011257","MPI-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0011264","torsion dystonia 6",1,"agreed"],["d","MONDO:0011266","myotonic dystrophy type 2",1,"agreed"],["d","MONDO:0011268","renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",1,"agreed"],["d","MONDO:0011269","psoriasis 2",1,"agreed"],["d","MONDO:0011271","rigid spine muscular dystrophy 1",1,"agreed"],["d","MONDO:0011272","retinitis pigmentosa 25",1,"agreed"],["d","MONDO:0011273","H syndrome",1,"agreed"],["d","MONDO:0011274","Muenke syndrome",1,"agreed"],["d","MONDO:0011275","acromesomelic dysplasia 1, Maroteaux type",1,"agreed"],["d","MONDO:0011280","schizophrenia 6",1,"single"],["d","MONDO:0011281","congenital myasthenic syndrome 5",1,"agreed"],["d","MONDO:0011283","mitochondrial DNA depletion syndrome 1",1,"agreed"],["d","MONDO:0011285","age related macular degeneration 1",2,"agreed"],["d","MONDO:0011287","craniosynostosis-anal anomalies-porokeratosis syndrome",1,"disputed"],["d","MONDO:0011291","ALG6-congenital disorder of glycosylation 1C",1,"agreed"],["d","MONDO:0011299","Huntington disease-like 1",1,"single"],["d","MONDO:0011301","pseudohypoparathyroidism type 1B",3,"agreed"],["d","MONDO:0011303","focal segmental glomerulosclerosis 1",1,"graded_apart"],["d","MONDO:0011304","cerebral cavernous malformation 2",1,"agreed"],["d","MONDO:0011305","cerebral cavernous malformation 3",1,"agreed"],["d","MONDO:0011308","GRACILE syndrome",1,"agreed"],["d","MONDO:0011309","familial gestational hyperthyroidism",1,"agreed"],["d","MONDO:0011311","glaucoma 1, open angle, F",1,"agreed"],["d","MONDO:0011313","megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1",2,"agreed"],["d","MONDO:0011323","arhinia, choanal atresia, and microphthalmia",1,"agreed"],["d","MONDO:0011325","Fanconi anemia complementation group F",1,"agreed"],["d","MONDO:0011326","citrullinemia, type II, adult-onset",1,"agreed"],["d","MONDO:0011327","neuronal intranuclear inclusion disease",1,"single"],["d","MONDO:0011329","cerebral palsy, spastic quadriplegic, 1",1,"single"],["d","MONDO:0011330","spinocerebellar ataxia type 10",1,"single"],["d","MONDO:0011334","limb-mammary syndrome",1,"single"],["d","MONDO:0011335","spondyloepimetaphyseal dysplasia with multiple dislocations",1,"agreed"],["d","MONDO:0011336","familial hemophagocytic lymphohistiocytosis 4",1,"agreed"],["d","MONDO:0011337","familial hemophagocytic lymphohistiocytosis 2",1,"agreed"],["d","MONDO:0011338","Omenn syndrome",7,"disputed"],["d","MONDO:0011339","hereditary spastic paraplegia 8",1,"graded_apart"],["d","MONDO:0011342","SLC35A1-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011346","xanthinuria type II",1,"agreed"],["d","MONDO:0011350","autosomal dominant nonsyndromic hearing loss 17",1,"agreed"],["d","MONDO:0011351","autosomal recessive nonsyndromic hearing loss 21",1,"agreed"],["d","MONDO:0011355","cone-rod dystrophy 7",1,"disputed"],["d","MONDO:0011359","acromelic frontonasal dysostosis",1,"agreed"],["d","MONDO:0011362","myopathy, myofibrillar, 9, with early respiratory failure",1,"graded_apart"],["d","MONDO:0011364","autosomal recessive nonsyndromic hearing loss 16",1,"agreed"],["d","MONDO:0011365","blepharophimosis - intellectual disability syndrome, SBBYS type",1,"agreed"],["d","MONDO:0011369","hypercholesterolemia, autosomal dominant, 3",1,"agreed"],["d","MONDO:0011374","hypercholesterolemia, familial, 4",1,"agreed"],["d","MONDO:0011377","long QT syndrome 3",1,"agreed"],["d","MONDO:0011380","leukoencephalopathy with vanishing white matter",5,"agreed"],["d","MONDO:0011381","dominant beta-thalassemia",1,"agreed"],["d","MONDO:0011382","sickle cell disease",1,"agreed"],["d","MONDO:0011383","autoimmune lymphoproliferative syndrome type 2A",1,"disputed"],["d","MONDO:0011390","focal segmental glomerulosclerosis 2",1,"agreed"],["d","MONDO:0011391","megalencephalic leukoencephalopathy with subcortical cysts",2,"ungraded"],["d","MONDO:0011393","hypoalphalipoproteinemia, primary, 1",1,"disputed"],["d","MONDO:0011395","cone-rod dystrophy 3",1,"agreed"],["d","MONDO:0011396","loricrin keratoderma",1,"agreed"],["d","MONDO:0011397","autosomal dominant cerebellar ataxia, deafness and narcolepsy",1,"agreed"],["d","MONDO:0011398","dystrophic epidermolysis bullosa pruriginosa",1,"agreed"],["d","MONDO:0011399","alpha thalassemia spectrum",2,"agreed"],["d","MONDO:0011400","dilated cardiomyopathy 1G",1,"agreed"],["d","MONDO:0011402","congenital cataracts-facial dysmorphism-neuropathy syndrome",1,"agreed"],["d","MONDO:0011403","left ventricular noncompaction 1",1,"agreed"],["d","MONDO:0011405","poikiloderma with neutropenia",1,"agreed"],["d","MONDO:0011408","hereditary spastic paraplegia 10",1,"agreed"],["d","MONDO:0011411","Chudley-McCullough syndrome",1,"graded_apart"],["d","MONDO:0011412","familial encephalopathy with neuroserpin inclusion bodies",1,"agreed"],["d","MONDO:0011413","cataract 9 multiple types",1,"agreed"],["d","MONDO:0011414","Peters anomaly",5,"agreed"],["d","MONDO:0011415","Leber congenital amaurosis 3",1,"agreed"],["d","MONDO:0011416","generalized epilepsy with febrile seizures plus, type 1",1,"graded_apart"],["d","MONDO:0011417","hemochromatosis type 3",1,"agreed"],["d","MONDO:0011420","short stature due to partial GHR deficiency",1,"agreed"],["d","MONDO:0011421","mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",1,"agreed"],["d","MONDO:0011422","autosomal recessive proximal renal tubular acidosis",1,"agreed"],["d","MONDO:0011423","autosomal recessive limb-girdle muscular dystrophy type 2E",1,"agreed"],["d","MONDO:0011426","aceruloplasminemia",1,"agreed"],["d","MONDO:0011428","ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",1,"agreed"],["d","MONDO:0011429","juvenile idiopathic arthritis",1,"single"],["d","MONDO:0011430","pulverulent cataract",9,"ungraded"],["d","MONDO:0011435","microcephaly 2, primary, autosomal recessive, with or without cortical malformations",1,"agreed"],["d","MONDO:0011436","autosomal recessive distal spinal muscular atrophy 1",1,"agreed"],["d","MONDO:0011437","microcephaly 4, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0011439","spinocerebellar ataxia type 12",1,"graded_apart"],["d","MONDO:0011442","advanced sleep phase syndrome 1",1,"agreed"],["d","MONDO:0011443","febrile seizures, familial, 4",1,"graded_apart"],["d","MONDO:0011444","Duane retraction syndrome 2",1,"disputed"],["d","MONDO:0011445","hereditary spastic paraplegia 11",1,"agreed"],["d","MONDO:0011448","PPARG-related familial partial lipodystrophy",1,"agreed"],["d","MONDO:0011449","Salla disease",1,"agreed"],["d","MONDO:0011450","breast-ovarian cancer, familial, susceptibility to, 1",1,"agreed"],["d","MONDO:0011451","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",1,"agreed"],["d","MONDO:0011452","hypotrichosis 7",1,"agreed"],["d","MONDO:0011456","nephronophthisis 3",1,"agreed"],["d","MONDO:0011458","Leber congenital amaurosis 4",1,"agreed"],["d","MONDO:0011459","arrhythmogenic right ventricular dysplasia 5",1,"graded_apart"],["d","MONDO:0011461","generalized epilepsy with febrile seizures plus, type 2",1,"agreed"],["d","MONDO:0011462","pyogenic arthritis-pyoderma gangrenosum-acne syndrome",1,"agreed"],["d","MONDO:0011464","spinocerebellar ataxia type 11",1,"agreed"],["d","MONDO:0011466","distal myopathy, Welander type",1,"single"],["d","MONDO:0011468","hereditary motor and sensory neuropathy, Okinawa type",1,"agreed"],["d","MONDO:0011469","congenital amegakaryocytic thrombocytopenia",1,"agreed"],["d","MONDO:0011472","epidermolysis bullosa simplex due to plakophilin deficiency",1,"agreed"],["d","MONDO:0011473","Leber congenital amaurosis 5",1,"agreed"],["d","MONDO:0011474","progressive familial heart block type IB",1,"graded_apart"],["d","MONDO:0011475","Charcot-Marie-Tooth disease type 4B2",1,"agreed"],["d","MONDO:0011476","MHC class I deficiency",4,"graded_apart"],["d","MONDO:0011477","tooth agenesis, selective, 3",1,"agreed"],["d","MONDO:0011479","postural orthostatic tachycardia syndrome due to NET deficiency",1,"agreed"],["d","MONDO:0011480","autosomal dominant nonsyndromic hearing loss 20",1,"agreed"],["d","MONDO:0011481","craniosynostosis 2",1,"graded_apart"],["d","MONDO:0011482","dilated cardiomyopathy 1I",1,"agreed"],["d","MONDO:0011484","catecholaminergic polymorphic ventricular tachycardia 1",1,"agreed"],["d","MONDO:0011485","autosomal recessive congenital ichthyosis 5",1,"agreed"],["d","MONDO:0011488","microcephaly 3, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0011489","hereditary spastic paraplegia 12",2,"agreed"],["d","MONDO:0011493","Stickler syndrome type 2",1,"agreed"],["d","MONDO:0011496","mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis",1,"single"],["d","MONDO:0011497","hereditary North American Indian childhood cirrhosis",1,"agreed"],["d","MONDO:0011502","Wolfram syndrome 2",1,"graded_apart"],["d","MONDO:0011503","cortisone reductase deficiency 1",1,"graded_apart"],["d","MONDO:0011504","NDE1-related microhydranencephaly",1,"single"],["d","MONDO:0011505","familial hypobetalipoproteinemia 2",1,"graded_apart"],["d","MONDO:0011506","familial infantile myoclonic epilepsy",1,"graded_apart"],["d","MONDO:0011508","lymphoma, non-Hodgkin, familial",1,"single"],["d","MONDO:0011510","Bohring-Opitz syndrome",1,"agreed"],["d","MONDO:0011512","Brooke-Spiegler syndrome",1,"agreed"],["d","MONDO:0011517","pseudohyperaldosteronism type 2",1,"agreed"],["d","MONDO:0011518","Wiedemann-Steiner syndrome",1,"agreed"],["d","MONDO:0011519","autosomal dominant nonsyndromic hearing loss 23",1,"agreed"],["d","MONDO:0011523","Bardet-Biedl syndrome 6",1,"agreed"],["d","MONDO:0011527","Charcot-Marie-Tooth disease type 4E",1,"disputed"],["d","MONDO:0011528","hyper-IgM syndrome type 2",1,"agreed"],["d","MONDO:0011529","spinocerebellar ataxia type 13",1,"agreed"],["d","MONDO:0011531","Noonan syndrome 2",1,"graded_apart"],["d","MONDO:0011532","hereditary spastic paraplegia 13",1,"graded_apart"],["d","MONDO:0011533","temtamy preaxial brachydactyly syndrome",1,"agreed"],["d","MONDO:0011534","Charcot-Marie-Tooth disease type 4G",1,"disputed"],["d","MONDO:0011535","split hand-foot malformation 4",1,"single"],["d","MONDO:0011537","macrocephaly-autism syndrome",2,"agreed"],["d","MONDO:0011539","nemaline myopathy 5",1,"agreed"],["d","MONDO:0011540","spinocerebellar ataxia type 14",1,"agreed"],["d","MONDO:0011541","dilated cardiomyopathy 1J",1,"graded_apart"],["d","MONDO:0011544","pheochromocytoma/paraganglioma syndrome 3",1,"agreed"],["d","MONDO:0011545","autosomal dominant nocturnal frontal lobe epilepsy 3",1,"agreed"],["d","MONDO:0011546","heterotaxy, visceral, 2, autosomal",1,"disputed"],["d","MONDO:0011547","cataract 31 multiple types",1,"graded_apart"],["d","MONDO:0011549","hypotrichosis 1",1,"disputed"],["d","MONDO:0011551","TH-deficient dopa-responsive dystonia",2,"agreed"],["d","MONDO:0011553","autosomal recessive nonsyndromic hearing loss 26",1,"single"],["d","MONDO:0011555","radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",2,"ungraded"],["d","MONDO:0011558","Usher syndrome type 2C",2,"agreed"],["d","MONDO:0011559","benign recurrent intrahepatic cholestasis type 2",1,"single"],["d","MONDO:0011562","autosomal dominant Parkinson disease 4",1,"agreed"],["d","MONDO:0011568","autosomal dominant nonsyndromic hearing loss 25",1,"disputed"],["d","MONDO:0011569","Charcot-Marie-Tooth disease type 2B1",1,"disputed"],["d","MONDO:0011570","Charcot-Marie-Tooth disease type 2B2",2,"agreed"],["d","MONDO:0011571","deafness, autosomal dominant 39, with dentinogenesis imperfecta 1",1,"disputed"],["d","MONDO:0011576","familial hyperaldosteronism type II",1,"single"],["d","MONDO:0011577","myopathy, proximal, and ophthalmoplegia",1,"agreed"],["d","MONDO:0011579","late-onset retinal degeneration",1,"agreed"],["d","MONDO:0011581","arrhythmogenic cardiomyopathy with wooly hair and keratoderma",1,"graded_apart"],["d","MONDO:0011582","multiple mitochondrial dysfunctions syndrome 1",1,"agreed"],["d","MONDO:0011583","cerebral amyloid angiopathy, APP-related",1,"agreed"],["d","MONDO:0011584","Fanconi anemia complementation group D1",1,"agreed"],["d","MONDO:0011585","autosomal recessive distal spinal muscular atrophy 2",1,"single"],["d","MONDO:0011588","platelet-type bleeding disorder 12",1,"graded_apart"],["d","MONDO:0011593","seizures, benign familial infantile, 2",1,"agreed"],["d","MONDO:0011600","congenital myasthenic syndrome 4A",1,"agreed"],["d","MONDO:0011601","neonatal intrahepatic cholestasis due to citrin deficiency",1,"agreed"],["d","MONDO:0011603","GNE myopathy",1,"agreed"],["d","MONDO:0011604","spondylo-ocular syndrome",1,"agreed"],["d","MONDO:0011610","dimethylglycine dehydrogenase deficiency",1,"agreed"],["d","MONDO:0011612","glycine encephalopathy",3,"agreed"],["d","MONDO:0011613","autosomal recessive early-onset Parkinson disease 6",1,"agreed"],["d","MONDO:0011614","3-hydroxy-3-methylglutaryl-CoA synthase deficiency",1,"agreed"],["d","MONDO:0011615","East Texas bleeding disorder",1,"ungraded"],["d","MONDO:0011624","transaldolase deficiency",1,"graded_apart"],["d","MONDO:0011627","intellectual developmental disorder with autism and speech delay",1,"single"],["d","MONDO:0011628","propionic acidemia",2,"agreed"],["d","MONDO:0011629","MOGS-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011630","retinitis pigmentosa 28",1,"agreed"],["d","MONDO:0011631","hemochromatosis type 4",1,"agreed"],["d","MONDO:0011632","amyotrophic lateral sclerosis type 21",1,"graded_apart"],["d","MONDO:0011633","Charcot-Marie-Tooth disease axonal type 2C",1,"single"],["d","MONDO:0011638","neuroferritinopathy",1,"graded_apart"],["d","MONDO:0011639","Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",1,"graded_apart"],["d","MONDO:0011640","genitopatellar syndrome",1,"agreed"],["d","MONDO:0011650","atrioventricular septal defect, susceptibility to, 2",1,"agreed"],["d","MONDO:0011651","intellectual disability, short stature, facial anomalies, and joint dislocations",1,"disputed"],["d","MONDO:0011652","Phelan-McDermid syndrome",1,"agreed"],["d","MONDO:0011658","autosomal recessive early-onset Parkinson disease 7",1,"graded_apart"],["d","MONDO:0011660","autosomal dominant nonsyndromic hearing loss 22",1,"agreed"],["d","MONDO:0011663","juvenile primary lateral sclerosis",2,"agreed"],["d","MONDO:0011664","immunodeficiency due to CD25 deficiency",1,"agreed"],["d","MONDO:0011667","maturity-onset diabetes of the young type 4",1,"agreed"],["d","MONDO:0011668","maturity-onset diabetes of the young type 6",1,"graded_apart"],["d","MONDO:0011669","hypotonia-cystinuria syndrome",1,"single"],["d","MONDO:0011670","Ehlers-Danlos syndrome due to tenascin-X deficiency",1,"agreed"],["d","MONDO:0011671","Huntington disease-like 2",1,"agreed"],["d","MONDO:0011674","Charcot-Marie-Tooth disease dominant intermediate B",1,"graded_apart"],["d","MONDO:0011675","Charcot-Marie-Tooth Disease, axonal, type 2GG",1,"single"],["d","MONDO:0011680","autosomal recessive congenital ichthyosis 3",1,"agreed"],["d","MONDO:0011683","oculocutaneous albinism type 4",1,"agreed"],["d","MONDO:0011686","DNA ligase IV deficiency",1,"agreed"],["d","MONDO:0011687","Charcot-Marie-Tooth disease axonal type 2F",1,"agreed"],["d","MONDO:0011688","muscular dystrophy-dystroglycanopathy type B5",1,"agreed"],["d","MONDO:0011693","glaucoma, normal tension, susceptibility to",1,"single"],["d","MONDO:0011694","spinocerebellar ataxia type 15/16",1,"agreed"],["d","MONDO:0011695","melanoma, uveal, susceptibility to, 1",1,"single"],["d","MONDO:0011698","glycine N-methyltransferase deficiency",1,"disputed"],["d","MONDO:0011702","dilated cardiomyopathy 1L",1,"agreed"],["d","MONDO:0011705","lymphangioleiomyomatosis",1,"single"],["d","MONDO:0011706","Kufor-Rakeb syndrome",1,"graded_apart"],["d","MONDO:0011707","familial dyskinesia and facial myokymia",1,"single"],["d","MONDO:0011708","autosomal dominant nonsyndromic hearing loss 36",1,"graded_apart"],["d","MONDO:0011712","van der Woude syndrome 2",1,"agreed"],["d","MONDO:0011713","melanoma-pancreatic cancer syndrome",1,"agreed"],["d","MONDO:0011714","partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome",1,"single"],["d","MONDO:0011715","Seckel syndrome 2",1,"graded_apart"],["d","MONDO:0011717","hyperinsulinism-hyperammonemia syndrome",1,"agreed"],["d","MONDO:0011718","primary ciliary dyskinesia 2",1,"graded_apart"],["d","MONDO:0011719","gastrointestinal stromal tumor",5,"agreed"],["d","MONDO:0011720","spermatogenic failure 3",1,"agreed"],["d","MONDO:0011721","distal myopathy with anterior tibial onset",1,"single"],["d","MONDO:0011724","encephalopathy due to GLUT1 deficiency",1,"agreed"],["d","MONDO:0011725","Crigler-Najjar syndrome type 2",1,"agreed"],["d","MONDO:0011730","fumaric aciduria",1,"agreed"],["d","MONDO:0011731","glucose-galactose malabsorption",1,"agreed"],["d","MONDO:0011732","familial digital arthropathy-brachydactyly",1,"ungraded"],["d","MONDO:0011735","hyper-IgM syndrome type 3",1,"graded_apart"],["d","MONDO:0011738","bilateral frontoparietal polymicrogyria",1,"agreed"],["d","MONDO:0011739","pancreatic cancer, susceptibility to, 1",1,"single"],["d","MONDO:0011740","Carney-Stratakis syndrome",3,"agreed"],["d","MONDO:0011743","Alzheimer disease 4",1,"agreed"],["d","MONDO:0011744","primary intraosseous venous malformation",1,"agreed"],["d","MONDO:0011748","Usher syndrome type 1G",1,"agreed"],["d","MONDO:0011749","oculocutaneous albinism type 1B",1,"single"],["d","MONDO:0011752","nephronophthisis 4",1,"agreed"],["d","MONDO:0011754","familial hyperreninemic hypoaldosteronism type 2",1,"single"],["d","MONDO:0011756","Senior-Loken syndrome 4",1,"agreed"],["d","MONDO:0011758","Hurler syndrome",1,"single"],["d","MONDO:0011759","Hurler-Scheie syndrome",1,"single"],["d","MONDO:0011760","Scheie syndrome",1,"agreed"],["d","MONDO:0011761","autosomal dominant nonsyndromic hearing loss 21",1,"graded_apart"],["d","MONDO:0011762","autosomal recessive nonsyndromic hearing loss 22",1,"disputed"],["d","MONDO:0011764","autosomal dominant Parkinson disease 8",1,"agreed"],["d","MONDO:0011765","multiple epiphyseal dysplasia type 5",1,"agreed"],["d","MONDO:0011766","46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",1,"agreed"],["d","MONDO:0011767","autosomal recessive nonsyndromic hearing loss 31",1,"graded_apart"],["d","MONDO:0011772","B4GALT1-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011773","anauxetic dysplasia",2,"ungraded"],["d","MONDO:0011774","autosomal recessive nonsyndromic hearing loss 30",1,"agreed"],["d","MONDO:0011776","CINCA syndrome",1,"agreed"],["d","MONDO:0011778","multiple epiphyseal dysplasia, Al-Gazali type",1,"ungraded"],["d","MONDO:0011781","spinocerebellar ataxia type 17",1,"agreed"],["d","MONDO:0011783","ALG12-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011784","Moyamoya disease 2",1,"graded_apart"],["d","MONDO:0011787","autosomal recessive limb-girdle muscular dystrophy type 2I",1,"agreed"],["d","MONDO:0011789","familial meningioma",4,"agreed"],["d","MONDO:0011790","Amish lethal microcephaly",1,"agreed"],["d","MONDO:0011792","thyroid dyshormonogenesis 6",1,"agreed"],["d","MONDO:0011794","Dravet syndrome",6,"ungraded"],["d","MONDO:0011797","infantile-onset ascending hereditary spastic paralysis",1,"agreed"],["d","MONDO:0011801","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",1,"disputed"],["d","MONDO:0011803","hereditary spastic paraplegia 7",1,"agreed"],["d","MONDO:0011804","autoimmune lymphoproliferative syndrome type 2B",1,"graded_apart"],["d","MONDO:0011805","asthma-related traits, susceptibility to, 1",1,"single"],["d","MONDO:0011806","osteofibrous dysplasia",1,"single"],["d","MONDO:0011811","autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",2,"graded_apart"],["d","MONDO:0011812","Duane-radial ray syndrome",1,"agreed"],["d","MONDO:0011814","Smith-McCort dysplasia 1",1,"graded_apart"],["d","MONDO:0011816","lathosterolosis",1,"agreed"],["d","MONDO:0011819","spinocerebellar ataxia type 19/22",1,"agreed"],["d","MONDO:0011821","Meckel syndrome, type 3",1,"single"],["d","MONDO:0011822","Bartter disease type 3",1,"agreed"],["d","MONDO:0011823","developmental malformations-deafness-dystonia syndrome",1,"disputed"],["d","MONDO:0011826","glucocorticoid deficiency 2",1,"agreed"],["d","MONDO:0011828","intellectual disability, autosomal recessive 2",1,"agreed"],["d","MONDO:0011829","coenzyme Q10 deficiency, primary, 1",1,"agreed"],["d","MONDO:0011830","lissencephaly due to LIS1 mutation",2,"agreed"],["d","MONDO:0011831","arrhythmogenic right ventricular dysplasia 8",1,"agreed"],["d","MONDO:0011832","autosomal dominant nonsyndromic hearing loss 44",1,"agreed"],["d","MONDO:0011833","spinocerebellar ataxia type 21",1,"graded_apart"],["d","MONDO:0011834","spinocerebellar ataxia type 18",1,"ungraded"],["d","MONDO:0011835","sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1,"agreed"],["d","MONDO:0011836","thyroid Hurthle cell carcinoma",1,"single"],["d","MONDO:0011837","vitamin K-dependent clotting factors, combined deficiency of, type 2",1,"disputed"],["d","MONDO:0011838","Bothnia retinal dystrophy",1,"agreed"],["d","MONDO:0011839","Newfoundland cone-rod dystrophy",1,"agreed"],["d","MONDO:0011840","dilated cardiomyopathy 1M",1,"agreed"],["d","MONDO:0011841","biotin-responsive basal ganglia disease",1,"agreed"],["d","MONDO:0011842","GRN-related frontotemporal lobar degeneration with Tdp43 inclusions",1,"agreed"],["d","MONDO:0011843","hypertrophic cardiomyopathy 25",1,"graded_apart"],["d","MONDO:0011853","Camptosynpolydactyly, complex",1,"single"],["d","MONDO:0011855","granular corneal dystrophy type II",1,"single"],["d","MONDO:0011857","atrial fibrillation, familial, 3",1,"single"],["d","MONDO:0011864","immunodeficiency, common variable, 1",2,"graded_apart"],["d","MONDO:0011866","pontocerebellar hypoplasia type 1A",1,"graded_apart"],["d","MONDO:0011868","lethal congenital contracture syndrome 2",1,"agreed"],["d","MONDO:0011870","annular epidermolytic ichthyosis",2,"agreed"],["d","MONDO:0011871","Niemann-Pick disease type B",1,"agreed"],["d","MONDO:0011872","Griscelli syndrome type 2",1,"agreed"],["d","MONDO:0011873","Niemann-Pick disease, type C2",1,"agreed"],["d","MONDO:0011874","neonatal ichthyosis-sclerosing cholangitis syndrome",1,"agreed"],["d","MONDO:0011875","epilepsy, idiopathic generalized, susceptibility to, 11",1,"single"],["d","MONDO:0011877","autosomal dominant osteopetrosis 1",1,"graded_apart"],["d","MONDO:0011879","neuronopathy, distal hereditary motor, type 7B",1,"graded_apart"],["d","MONDO:0011882","skin fragility-woolly hair-palmoplantar keratoderma syndrome",1,"disputed"],["d","MONDO:0011888","immunodeficiency 67",1,"agreed"],["d","MONDO:0011889","Charcot-Marie-Tooth disease type 2I",1,"ungraded"],["d","MONDO:0011890","Charcot-Marie-Tooth disease type 1D",1,"agreed"],["d","MONDO:0011891","febrile seizures, familial, 8",1,"agreed"],["d","MONDO:0011892","epilepsy, idiopathic generalized, susceptibility to, 9",1,"agreed"],["d","MONDO:0011894","Charcot-Marie-Tooth disease type 2E",1,"ungraded"],["d","MONDO:0011896","Parkinson disease 11, autosomal dominant, susceptibility to",1,"graded_apart"],["d","MONDO:0011897","leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",1,"single"],["d","MONDO:0011898","Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",1,"single"],["d","MONDO:0011899","Noonan syndrome-like disorder with loose anagen hair",3,"single"],["d","MONDO:0011902","Charcot-Marie-Tooth disease type 1F",1,"single"],["d","MONDO:0011903","Charcot-Marie-Tooth disease type 2J",1,"ungraded"],["d","MONDO:0011904","seizures, benign familial infantile, 3",1,"agreed"],["d","MONDO:0011905","familial hypercholanemia",3,"single"],["d","MONDO:0011906","congenital bile acid synthesis defect 1",1,"agreed"],["d","MONDO:0011907","acrocapitofemoral dysplasia",1,"disputed"],["d","MONDO:0011908","juvenile myelomonocytic leukemia",2,"single"],["d","MONDO:0011909","Charcot-Marie-Tooth disease dominant intermediate D",1,"ungraded"],["d","MONDO:0011910","autosomal dominant limb-girdle muscular dystrophy type 1C",1,"single"],["d","MONDO:0011911","craniolenticulosutural dysplasia",1,"graded_apart"],["d","MONDO:0011912","autosomal recessive nonsyndromic hearing loss 37",1,"graded_apart"],["d","MONDO:0011913","Alzheimer disease 3",1,"agreed"],["d","MONDO:0011914","hypotrichosis-lymphedema-telangiectasia syndrome",1,"disputed"],["d","MONDO:0011915","mitral valve prolapse, myxomatous 2",1,"single"],["d","MONDO:0011916","Charcot-Marie-Tooth disease axonal type 2K",1,"agreed"],["d","MONDO:0011917","focal segmental glomerulosclerosis 3, susceptibility to",1,"disputed"],["d","MONDO:0011921","aural atresia, congenital",1,"disputed"],["d","MONDO:0011923","osteoarthritis susceptibility 3",1,"single"],["d","MONDO:0011925","congenital merosin-deficient muscular dystrophy 1A",1,"agreed"],["d","MONDO:0011928","caudal duplication",1,"single"],["d","MONDO:0011930","epilepsy, familial adult myoclonic, 2",2,"single"],["d","MONDO:0011932","hypotrichosis 6",1,"agreed"],["d","MONDO:0011933","ALG2-congenital disorder of glycosylation",1,"disputed"],["d","MONDO:0011935","retinitis pigmentosa 30",1,"agreed"],["d","MONDO:0011936","microphthalmia with brain and digit anomalies",1,"graded_apart"],["d","MONDO:0011937","peeling skin syndrome 4",1,"graded_apart"],["d","MONDO:0011938","atrial septal defect 2",1,"agreed"],["d","MONDO:0011939","Spondyloenchondrodysplasia with immune dysregulation",1,"agreed"],["d","MONDO:0011945","Gaucher disease perinatal lethal",1,"agreed"],["d","MONDO:0011946","diaphanospondylodysostosis",1,"agreed"],["d","MONDO:0011948","pontocerebellar hypoplasia type 3",1,"graded_apart"],["d","MONDO:0011951","amyotrophic lateral sclerosis type 6",1,"agreed"],["d","MONDO:0011953","familial acute necrotizing encephalopathy",1,"graded_apart"],["d","MONDO:0011957","retinal macular dystrophy type 2",1,"agreed"],["d","MONDO:0011963","Joubert syndrome 2",1,"agreed"],["d","MONDO:0011964","DPAGT1-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0011966","periventricular heterotopia with microcephaly, autosomal recessive",1,"agreed"],["d","MONDO:0011968","autosomal recessive limb-girdle muscular dystrophy type 2D",1,"agreed"],["d","MONDO:0011969","ALG8-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0011971","hyper-IgM syndrome type 5",1,"graded_apart"],["d","MONDO:0011972","ovarian hyperstimulation syndrome",1,"agreed"],["d","MONDO:0011973","zinc deficiency, transient neonatal",1,"agreed"],["d","MONDO:0011974","retinitis pigmentosa 7",2,"disputed"],["d","MONDO:0011979","adult-onset foveomacular vitelliform dystrophy",4,"ungraded"],["d","MONDO:0011984","synpolydactyly type 2",1,"agreed"],["d","MONDO:0011987","cone-rod dystrophy 13",1,"agreed"],["d","MONDO:0011988","neutrophil immunodeficiency syndrome",1,"graded_apart"],["d","MONDO:0011994","autosomal dominant nonsyndromic hearing loss 41",1,"disputed"],["d","MONDO:0011997","Hermansky-Pudlak syndrome 2",1,"agreed"],["d","MONDO:0011998","autosomal dominant slowed nerve conduction velocity",1,"graded_apart"],["d","MONDO:0012003","autosomal recessive nonsyndromic hearing loss 39",1,"disputed"],["d","MONDO:0012004","parathyroid gland carcinoma",1,"agreed"],["d","MONDO:0012011","coronary artery disease, autosomal dominant, 1",1,"single"],["d","MONDO:0012012","Charcot-Marie-Tooth disease dominant intermediate C",1,"agreed"],["d","MONDO:0012013","Weill-Marchesani syndrome 2, dominant",1,"agreed"],["d","MONDO:0012014","Charcot-Marie-Tooth disease recessive intermediate A",1,"agreed"],["d","MONDO:0012017","Parkes Weber syndrome",1,"ungraded"],["d","MONDO:0012018","myopathy, myosin storage, autosomal dominant",1,"single"],["d","MONDO:0012019","spondyloepiphyseal dysplasia, Kimberley type",1,"disputed"],["d","MONDO:0012024","retinitis pigmentosa 26",1,"agreed"],["d","MONDO:0012025","branchiootic syndrome 3",1,"disputed"],["d","MONDO:0012029","microcephaly 6, primary, autosomal recessive",1,"agreed"],["d","MONDO:0012031","platelet-type bleeding disorder 10",1,"agreed"],["d","MONDO:0012033","bradyopsia",2,"graded_apart"],["d","MONDO:0012034","autosomal dominant limb-girdle muscular dystrophy type 1F",1,"graded_apart"],["d","MONDO:0012037","intellectual disability, autosomal recessive 3",1,"graded_apart"],["d","MONDO:0012039","myocardial infarction, susceptibility to",1,"single"],["d","MONDO:0012041","familial adenomatous polyposis 2",1,"agreed"],["d","MONDO:0012043","Reis-Bucklers corneal dystrophy",1,"single"],["d","MONDO:0012052","ALG1-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0012056","Leber congenital amaurosis 9",1,"agreed"],["d","MONDO:0012060","autosomal recessive nonsyndromic hearing loss 35",1,"agreed"],["d","MONDO:0012061","familial sick sinus syndrome",2,"ungraded"],["d","MONDO:0012062","dilated cardiomyopathy 1O",1,"disputed"],["d","MONDO:0012064","choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome",2,"disputed"],["d","MONDO:0012067","asthma-related traits, susceptibility to, 2",1,"single"],["d","MONDO:0012071","congenital generalized lipodystrophy type 1",1,"agreed"],["d","MONDO:0012073","ribose-5-P isomerase deficiency",1,"graded_apart"],["d","MONDO:0012074","mandibuloacral dysplasia with type B lipodystrophy",1,"graded_apart"],["d","MONDO:0012075","oligodontia-cancer predisposition syndrome",1,"agreed"],["d","MONDO:0012077","amyotrophic lateral sclerosis type 8",1,"agreed"],["d","MONDO:0012078","Joubert syndrome 3",1,"agreed"],["d","MONDO:0012080","neuronopathy, distal hereditary motor, type 2B",1,"single"],["d","MONDO:0012083","autosomal dominant nonsyndromic hearing loss 28",1,"graded_apart"],["d","MONDO:0012084","aromatic L-amino acid decarboxylase deficiency",1,"agreed"],["d","MONDO:0012085","primary ciliary dyskinesia 3",1,"agreed"],["d","MONDO:0012088","primary ciliary dyskinesia 5",1,"graded_apart"],["d","MONDO:0012089","ichthyosis prematurity syndrome",1,"agreed"],["d","MONDO:0012091","autosomal recessive nonsyndromic hearing loss 32",1,"single"],["d","MONDO:0012092","hereditary sensory and autonomic neuropathy type 5",1,"agreed"],["d","MONDO:0012096","Charcot-Marie-Tooth disease axonal type 2L",1,"agreed"],["d","MONDO:0012097","spondylocostal dysostosis 2, autosomal recessive",1,"agreed"],["d","MONDO:0012099","AICA-ribosiduria",1,"agreed"],["d","MONDO:0012103","spinocerebellar ataxia type 25",1,"graded_apart"],["d","MONDO:0012106","microcephaly 5, primary, autosomal recessive",1,"agreed"],["d","MONDO:0012108","spondyloepimetaphyseal dysplasia, matrilin-3 type",1,"disputed"],["d","MONDO:0012110","growth delay due to insulin-like growth factor type 1 deficiency",1,"disputed"],["d","MONDO:0012111","hypertrophic cardiomyopathy 8",1,"agreed"],["d","MONDO:0012112","hypertrophic cardiomyopathy 10",1,"agreed"],["d","MONDO:0012116","spinocerebellar ataxia type 8",2,"single"],["d","MONDO:0012117","ALG9-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0012118","COG7-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0012120","pyruvate dehydrogenase phosphatase deficiency",1,"graded_apart"],["d","MONDO:0012123","congenital disorder of glycosylation type 1E",1,"graded_apart"],["d","MONDO:0012124","sudden infant death-dysgenesis of the testes syndrome",1,"graded_apart"],["d","MONDO:0012125","leukodystrophy, hypomyelinating, 2",1,"agreed"],["d","MONDO:0012126","familial avascular necrosis of femoral head",2,"ungraded"],["d","MONDO:0012127","autosomal recessive limb-girdle muscular dystrophy type 2J",1,"graded_apart"],["d","MONDO:0012130","myofibrillar myopathy 2",1,"agreed"],["d","MONDO:0012132","colorectal cancer, susceptibility to, 1",1,"agreed"],["d","MONDO:0012136","carnitine palmitoyl transferase II deficiency, neonatal form",1,"single"],["d","MONDO:0012137","Carney complex - trismus - pseudocamptodactyly syndrome",1,"single"],["d","MONDO:0012138","muscular dystrophy-dystroglycanopathy type B6",1,"agreed"],["d","MONDO:0012141","orofacial cleft 6, susceptibility to",1,"single"],["d","MONDO:0012142","orofacial cleft 5",1,"single"],["d","MONDO:0012143","hereditary cryohydrocytosis with reduced stomatin",1,"ungraded"],["d","MONDO:0012144","Waardenburg syndrome type 2D",1,"graded_apart"],["d","MONDO:0012145","macular degeneration, age-related, 3",1,"single"],["d","MONDO:0012146","familial hemophagocytic lymphohistiocytosis 3",1,"agreed"],["d","MONDO:0012153","Alzheimer disease 9",1,"single"],["d","MONDO:0012154","myopia 6",1,"disputed"],["d","MONDO:0012156","myasthenic syndrome, congenital, 1B, fast-channel",1,"agreed"],["d","MONDO:0012157","congenital myasthenic syndrome 4C",1,"agreed"],["d","MONDO:0012160","spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",1,"agreed"],["d","MONDO:0012161","susceptibility to respiratory infections associated with CD8alpha chain mutation",1,"disputed"],["d","MONDO:0012162","patterned macular dystrophy 2",1,"disputed"],["d","MONDO:0012163","immunodeficiency 104",2,"graded_apart"],["d","MONDO:0012165","BNAR syndrome",1,"agreed"],["d","MONDO:0012166","autosomal dominant sensory ataxia 1",1,"agreed"],["d","MONDO:0012169","premature ovarian failure 3",1,"single"],["d","MONDO:0012170","autosomal recessive nonsyndromic hearing loss 36",1,"graded_apart"],["d","MONDO:0012172","mitochondrial trifunctional protein deficiency",2,"agreed"],["d","MONDO:0012173","long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",1,"agreed"],["d","MONDO:0012177","posterior column ataxia-retinitis pigmentosa syndrome",1,"agreed"],["d","MONDO:0012180","arrhythmogenic right ventricular dysplasia 9",1,"agreed"],["d","MONDO:0012183","melanoma, cutaneous malignant, susceptibility to, 3",1,"agreed"],["d","MONDO:0012184","Pierson syndrome",1,"agreed"],["d","MONDO:0012186","Fanconi anemia complementation group I",1,"agreed"],["d","MONDO:0012187","Fanconi anemia complementation group J",1,"agreed"],["d","MONDO:0012190","epidermolysis bullosa simplex 7, with nephropathy and deafness",1,"disputed"],["d","MONDO:0012191","hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",1,"agreed"],["d","MONDO:0012192","permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome",2,"graded_apart"],["d","MONDO:0012193","autosomal dominant limb-girdle muscular dystrophy type 1G",1,"graded_apart"],["d","MONDO:0012196","autosomal dominant auditory neuropathy 1",1,"agreed"],["d","MONDO:0012197","idiopathic aplastic anemia",1,"single"],["d","MONDO:0012198","PCWH syndrome",1,"agreed"],["d","MONDO:0012199","posterior polymorphous corneal dystrophy 2",1,"single"],["d","MONDO:0012200","posterior polymorphous corneal dystrophy 3",1,"agreed"],["d","MONDO:0012203","familial hyperthyroidism due to mutations in TSH receptor",1,"agreed"],["d","MONDO:0012204","familial pseudohyperkalemia",1,"single"],["d","MONDO:0012205","autosomal dominant striatal neurodegeneration type 1",1,"agreed"],["d","MONDO:0012206","spondyloepiphyseal dysplasia with metatarsal shortening",1,"agreed"],["d","MONDO:0012208","congenital reticular ichthyosiform erythroderma",2,"single"],["d","MONDO:0012211","MPDU1-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0012212","Loeys-Dietz syndrome 1",1,"agreed"],["d","MONDO:0012213","hereditary spastic paraplegia 26",1,"graded_apart"],["d","MONDO:0012215","myofibrillar myopathy 3",1,"agreed"],["d","MONDO:0012216","foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",1,"agreed"],["d","MONDO:0012217","Bruck syndrome 2",1,"agreed"],["d","MONDO:0012220","Griscelli syndrome type 3",2,"agreed"],["d","MONDO:0012221","alpha-N-acetylgalactosaminidase deficiency type 1",1,"agreed"],["d","MONDO:0012222","alpha-N-acetylgalactosaminidase deficiency type 2",1,"agreed"],["d","MONDO:0012225","Senior-Loken syndrome 5",1,"agreed"],["d","MONDO:0012231","Charcot-Marie-Tooth disease type 2A2",1,"agreed"],["d","MONDO:0012233","Li-Fraumeni syndrome 2",1,"single"],["d","MONDO:0012235","autosomal recessive spinocerebellar ataxia 7",1,"single"],["d","MONDO:0012237","nemaline myopathy 6",1,"graded_apart"],["d","MONDO:0012238","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",1,"graded_apart"],["d","MONDO:0012239","congenital myopathy 4B, autosomal recessive",1,"graded_apart"],["d","MONDO:0012240","congenital myopathy 23",1,"agreed"],["d","MONDO:0012241","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",1,"agreed"],["d","MONDO:0012243","B-cell immunodeficiency, distal limb anomalies, and urogenital malformations",1,"graded_apart"],["d","MONDO:0012245","developmental and epileptic encephalopathy, 3",1,"agreed"],["d","MONDO:0012246","spinocerebellar ataxia type 26",1,"graded_apart"],["d","MONDO:0012247","spinocerebellar ataxia type 27",1,"graded_apart"],["d","MONDO:0012248","autosomal recessive limb-girdle muscular dystrophy type 2K",1,"ungraded"],["d","MONDO:0012249","Lynch syndrome 2",1,"agreed"],["d","MONDO:0012250","Charcot-Marie-Tooth disease type 4H",1,"agreed"],["d","MONDO:0012251","MEDNIK syndrome",2,"agreed"],["d","MONDO:0012252","rhabdoid tumor predisposition syndrome 1",1,"agreed"],["d","MONDO:0012256","hereditary spastic paraplegia 28",1,"graded_apart"],["d","MONDO:0012258","epidermolysis bullosa simplex 2E, with migratory circinate erythema",1,"ungraded"],["d","MONDO:0012271","mesoaxial synostotic syndactyly with phalangeal reduction",1,"agreed"],["d","MONDO:0012273","autosomal recessive nonsyndromic hearing loss 48",1,"agreed"],["d","MONDO:0012274","acromesomelic dysplasia 3",1,"graded_apart"],["d","MONDO:0012276","generalized epilepsy-paroxysmal dyskinesia syndrome",1,"agreed"],["d","MONDO:0012277","myofibrillar myopathy 4",1,"disputed"],["d","MONDO:0012280","Goldberg-Shprintzen syndrome",1,"agreed"],["d","MONDO:0012287","Stickler syndrome, type I, nonsyndromic ocular",1,"agreed"],["d","MONDO:0012289","myofibrillar myopathy 5",1,"agreed"],["d","MONDO:0012290","CEDNIK syndrome",1,"agreed"],["d","MONDO:0012293","autosomal recessive nonsyndromic hearing loss 23",1,"agreed"],["d","MONDO:0012295","complement component 5 deficiency",1,"single"],["d","MONDO:0012297","spastic paraplegia, optic atropy, and neuropathy",2,"disputed"],["d","MONDO:0012299","nanophthalmos 2",1,"graded_apart"],["d","MONDO:0012301","mitochondrial DNA depletion syndrome, myopathic form",1,"agreed"],["d","MONDO:0012307","familial scaphocephaly syndrome, McGillivray type",1,"single"],["d","MONDO:0012308","Joubert syndrome with renal defect",3,"graded_apart"],["d","MONDO:0012309","parietal foramina 2",1,"graded_apart"],["d","MONDO:0012312","short QT syndrome type 1",1,"graded_apart"],["d","MONDO:0012313","short QT syndrome type 2",1,"agreed"],["d","MONDO:0012314","short QT syndrome type 3",1,"graded_apart"],["d","MONDO:0012316","Majeed syndrome",1,"agreed"],["d","MONDO:0012320","migraine, familial hemiplegic, 3",1,"agreed"],["d","MONDO:0012322","holoprosencephaly 5",1,"agreed"],["d","MONDO:0012323","lethal acantholytic epidermolysis bullosa",2,"graded_apart"],["d","MONDO:0012326","autosomal recessive nonsyndromic hearing loss 42",1,"agreed"],["d","MONDO:0012328","trichilemmal cyst",1,"single"],["d","MONDO:0012332","short stature-delayed bone age due to thyroid hormone metabolism deficiency",1,"ungraded"],["d","MONDO:0012333","autosomal recessive nonsyndromic hearing loss 53",1,"graded_apart"],["d","MONDO:0012335","obesity due to pro-opiomelanocortin deficiency",1,"graded_apart"],["d","MONDO:0012336","cataract 22 multiple types",1,"graded_apart"],["d","MONDO:0012345","acral peeling skin syndrome",2,"agreed"],["d","MONDO:0012348","maturity-onset diabetes of the young type 8",1,"disputed"],["d","MONDO:0012349","spondylocostal dysostosis 3, autosomal recessive",1,"graded_apart"],["d","MONDO:0012350","complement factor H deficiency",1,"graded_apart"],["d","MONDO:0012353","erythrocytosis, familial, 3",1,"agreed"],["d","MONDO:0012354","platelet-type bleeding disorder 8",1,"disputed"],["d","MONDO:0012355","autosomal recessive nonsyndromic hearing loss 28",1,"agreed"],["d","MONDO:0012356","glomerulocystic kidney disease with hyperuricemia and isosthenuria",1,"single"],["d","MONDO:0012357","glaucoma 1, open angle, G",1,"agreed"],["d","MONDO:0012359","combined immunodeficiency due to partial RAG1 deficiency",1,"ungraded"],["d","MONDO:0012362","dilated cardiomyopathy 1P",1,"agreed"],["d","MONDO:0012367","retinitis pigmentosa 31",1,"agreed"],["d","MONDO:0012368","aminoacylase 1 deficiency",1,"agreed"],["d","MONDO:0012371","Noonan syndrome 3",1,"agreed"],["d","MONDO:0012381","hyperinsulinism due to INSR deficiency",1,"graded_apart"],["d","MONDO:0012382","hyperinsulinemic hypoglycemia, familial, 4",1,"agreed"],["d","MONDO:0012383","primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",1,"graded_apart"],["d","MONDO:0012391","neuronal ceroid lipofuscinosis 8 northern epilepsy variant",1,"single"],["d","MONDO:0012392","2-methylbutyryl-CoA dehydrogenase deficiency",1,"graded_apart"],["d","MONDO:0012393","congenital brain dysgenesis due to glutamine synthetase deficiency",1,"graded_apart"],["d","MONDO:0012394","multiple synostoses syndrome 2",1,"single"],["d","MONDO:0012395","cataract 18",1,"agreed"],["d","MONDO:0012396","exercise-induced hyperinsulinism",1,"disputed"],["d","MONDO:0012398","achromatopsia 6",1,"disputed"],["d","MONDO:0012399","complex cortical dysplasia with other brain malformations 7",1,"agreed"],["d","MONDO:0012400","cortical dysplasia-focal epilepsy syndrome",1,"graded_apart"],["d","MONDO:0012401","congenital stromal corneal dystrophy",1,"graded_apart"],["d","MONDO:0012405","polyposis syndrome, hereditary mixed, 2",1,"single"],["d","MONDO:0012407","pyridoxal phosphate-responsive seizures",1,"agreed"],["d","MONDO:0012408","microphthalmia, isolated, with coloboma 3",1,"agreed"],["d","MONDO:0012409","isolated microphthalmia 2",1,"agreed"],["d","MONDO:0012411","giant axonal neuropathy 2",1,"graded_apart"],["d","MONDO:0012412","complement component 7 deficiency",1,"agreed"],["d","MONDO:0012413","syndromic microphthalmia type 5",1,"graded_apart"],["d","MONDO:0012414","neuronal ceroid lipofuscinosis 10",1,"agreed"],["d","MONDO:0012415","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",1,"disputed"],["d","MONDO:0012417","heart-hand syndrome, Slovenian type",1,"disputed"],["d","MONDO:0012420","autosomal recessive nonsyndromic hearing loss 49",1,"graded_apart"],["d","MONDO:0012421","autosomal recessive nonsyndromic hearing loss 44",1,"agreed"],["d","MONDO:0012423","MORM syndrome",1,"graded_apart"],["d","MONDO:0012426","immunodeficiency 25",1,"disputed"],["d","MONDO:0012427","Loeys-Dietz syndrome 2",1,"agreed"],["d","MONDO:0012429","Aicardi-Goutieres syndrome 2",1,"agreed"],["d","MONDO:0012430","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",1,"disputed"],["d","MONDO:0012431","diaphragmatic hernia 3",1,"agreed"],["d","MONDO:0012432","Joubert syndrome 5",1,"agreed"],["d","MONDO:0012434","arrhythmogenic right ventricular dysplasia 10",1,"agreed"],["d","MONDO:0012435","3-methylglutaconic aciduria type 5",1,"agreed"],["d","MONDO:0012436","neonatal diabetes mellitus with congenital hypothyroidism",2,"agreed"],["d","MONDO:0012437","cataract 21 multiple types",1,"agreed"],["d","MONDO:0012438","pontocerebellar hypoplasia type 5",1,"single"],["d","MONDO:0012439","Alagille syndrome due to a NOTCH2 point mutation",1,"graded_apart"],["d","MONDO:0012442","autosomal recessive nonsyndromic hearing loss 66",1,"agreed"],["d","MONDO:0012444","neurodegeneration with brain iron accumulation 2B",1,"agreed"],["d","MONDO:0012445","autosomal recessive nonsyndromic hearing loss 59",1,"agreed"],["d","MONDO:0012446","seborrhea-like dermatitis with psoriasiform elements",1,"graded_apart"],["d","MONDO:0012448","hereditary spastic paraplegia 33",1,"agreed"],["d","MONDO:0012449","spinocerebellar ataxia type 23",1,"disputed"],["d","MONDO:0012450","spinocerebellar ataxia type 28",1,"agreed"],["d","MONDO:0012453","hereditary spastic paraplegia 31",1,"agreed"],["d","MONDO:0012455","Kleefstra syndrome",1,"single"],["d","MONDO:0012456","congenital primary aphakia",1,"agreed"],["d","MONDO:0012460","autosomal recessive nonsyndromic hearing loss 67",1,"agreed"],["d","MONDO:0012463","retinitis pigmentosa 35",1,"agreed"],["d","MONDO:0012464","cone-rod dystrophy 10",1,"single"],["d","MONDO:0012465","hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency",2,"graded_apart"],["d","MONDO:0012467","cold-induced sweating syndrome 2",1,"single"],["d","MONDO:0012471","Aicardi-Goutieres syndrome 3",1,"agreed"],["d","MONDO:0012472","Aicardi-Goutieres syndrome 4",1,"agreed"],["d","MONDO:0012474","autosomal dominant nocturnal frontal lobe epilepsy 4",1,"disputed"],["d","MONDO:0012475","cone dystrophy with supernormal rod response",1,"agreed"],["d","MONDO:0012476","hereditary spastic paraplegia 30",1,"agreed"],["d","MONDO:0012477","retinitis pigmentosa 33",1,"agreed"],["d","MONDO:0012479","congenital malabsorptive diarrhea 4",1,"agreed"],["d","MONDO:0012480","diabetes mellitus, transient neonatal, 2",1,"agreed"],["d","MONDO:0012481","mevalonic aciduria",1,"agreed"],["d","MONDO:0012483","cone-rod dystrophy 11",1,"agreed"],["d","MONDO:0012485","autosomal recessive nonsyndromic hearing loss 68",1,"agreed"],["d","MONDO:0012489","cataract 23",1,"graded_apart"],["d","MONDO:0012490","cone-rod synaptic disorder, congenital nonprogressive",2,"agreed"],["d","MONDO:0012495","spondyloepimetaphyseal dysplasia, Genevieve type",1,"graded_apart"],["d","MONDO:0012496","Koolen-de Vries syndrome",1,"agreed"],["d","MONDO:0012497","congenital stationary night blindness autosomal dominant 3",1,"agreed"],["d","MONDO:0012498","congenital stationary night blindness autosomal dominant 1",1,"agreed"],["d","MONDO:0012500","chilblain lupus 1",1,"agreed"],["d","MONDO:0012502","normophosphatemic familial tumoral calcinosis",1,"disputed"],["d","MONDO:0012504","camptodactyly-tall stature-scoliosis-hearing loss syndrome",1,"graded_apart"],["d","MONDO:0012505","pigmented nodular adrenocortical disease, primary, 2",1,"disputed"],["d","MONDO:0012506","arrhythmogenic right ventricular dysplasia 11",1,"agreed"],["d","MONDO:0012507","retinal cone dystrophy 4",1,"disputed"],["d","MONDO:0012509","pigmented nodular adrenocortical disease, primary, 1",1,"graded_apart"],["d","MONDO:0012510","combined oxidative phosphorylation defect type 2",1,"graded_apart"],["d","MONDO:0012512","fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",1,"agreed"],["d","MONDO:0012513","maturity-onset diabetes of the young type 7",1,"disputed"],["d","MONDO:0012514","leukodystrophy, hypomyelinating, 5",1,"agreed"],["d","MONDO:0012516","mandibulofacial dysostosis-microcephaly syndrome",1,"agreed"],["d","MONDO:0012517","Gaucher disease due to saposin C deficiency",1,"graded_apart"],["d","MONDO:0012518","congenital myasthenic syndrome 12",1,"graded_apart"],["d","MONDO:0012520","insulin-resistance syndrome type A",1,"disputed"],["d","MONDO:0012521","herpes simplex encephalitis",1,"single"],["d","MONDO:0012522","diabetes mellitus, transient neonatal, 3",1,"disputed"],["d","MONDO:0012523","retinitis pigmentosa 36",1,"graded_apart"],["d","MONDO:0012524","corticosterone methyloxidase type 2 deficiency",1,"single"],["d","MONDO:0012525","Leber congenital amaurosis 12",1,"graded_apart"],["d","MONDO:0012526","hereditary angioedema type 3",1,"agreed"],["d","MONDO:0012527","cataract 11 multiple types",1,"single"],["d","MONDO:0012528","hypogonadotropic hypogonadism 4 with or without anosmia",1,"agreed"],["d","MONDO:0012529","Diamond-Blackfan anemia 3",1,"agreed"],["d","MONDO:0012530","palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome",1,"graded_apart"],["d","MONDO:0012531","xeroderma pigmentosum group B",1,"agreed"],["d","MONDO:0012534","combined oxidative phosphorylation defect type 4",1,"agreed"],["d","MONDO:0012536","osteogenesis imperfecta type 7",1,"agreed"],["d","MONDO:0012538","nemaline myopathy 7",1,"graded_apart"],["d","MONDO:0012539","Joubert syndrome 6",1,"agreed"],["d","MONDO:0012541","deafness with labyrinthine aplasia, microtia, and microdontia",1,"agreed"],["d","MONDO:0012543","optic atrophy 5",1,"agreed"],["d","MONDO:0012544","brachydactyly-syndactyly syndrome",1,"agreed"],["d","MONDO:0012545","neutral lipid storage myopathy",1,"agreed"],["d","MONDO:0012546","nephrotic syndrome, type 3",1,"agreed"],["d","MONDO:0012547","Noonan syndrome 4",1,"agreed"],["d","MONDO:0012548","Kostmann syndrome",1,"agreed"],["d","MONDO:0012549","autosomal recessive ataxia, Beauce type",1,"agreed"],["d","MONDO:0012552","multiple endocrine neoplasia type 4",1,"graded_apart"],["d","MONDO:0012553","cerebrooculofacioskeletal syndrome 2",1,"single"],["d","MONDO:0012554","cerebrooculofacioskeletal syndrome 4",1,"disputed"],["d","MONDO:0012555","Cornelia de Lange syndrome 3",1,"agreed"],["d","MONDO:0012556","DK1-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0012557","cardiomyopathy-hypotonia-lactic acidosis syndrome",1,"disputed"],["d","MONDO:0012559","primary immunodeficiency syndrome due to p14 deficiency",1,"graded_apart"],["d","MONDO:0012561","congenital anomalies of kidney and urinary tract 1",1,"disputed"],["d","MONDO:0012562","holoprosencephaly 7",1,"disputed"],["d","MONDO:0012563","holoprosencephaly 9",1,"graded_apart"],["d","MONDO:0012565","Fanconi anemia complementation group N",1,"agreed"],["d","MONDO:0012570","body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency",1,"graded_apart"],["d","MONDO:0012571","primary ciliary dyskinesia 6",1,"agreed"],["d","MONDO:0012573","vesicoureteral reflux 2",1,"agreed"],["d","MONDO:0012574","Potocki-Lupski syndrome",1,"single"],["d","MONDO:0012575","branchiootorenal syndrome 2",1,"disputed"],["d","MONDO:0012580","hereditary pulmonary alveolar proteinosis",3,"single"],["d","MONDO:0012581","osteogenesis imperfecta type 8",1,"agreed"],["d","MONDO:0012582","interstitial lung disease due to ABCA3 deficiency",1,"agreed"],["d","MONDO:0012586","coronary artery disease, autosomal dominant 2",1,"single"],["d","MONDO:0012588","neuronal ceroid lipofuscinosis 7",1,"agreed"],["d","MONDO:0012589","Pitt-Hopkins syndrome",1,"agreed"],["d","MONDO:0012590","XFE progeroid syndrome",1,"single"],["d","MONDO:0012591","osteogenesis imperfecta type 5",1,"agreed"],["d","MONDO:0012592","osteogenesis imperfecta type 11",1,"agreed"],["d","MONDO:0012593","brain-lung-thyroid syndrome",1,"agreed"],["d","MONDO:0012594","complement factor I deficiency",1,"single"],["d","MONDO:0012596","PSAT deficiency",1,"single"],["d","MONDO:0012597","prostate cancer, hereditary, 9",1,"single"],["d","MONDO:0012602","autosomal recessive nonsyndromic hearing loss 24",1,"agreed"],["d","MONDO:0012604","isolated microphthalmia 3",1,"agreed"],["d","MONDO:0012605","isolated microphthalmia 5",1,"graded_apart"],["d","MONDO:0012607","asthma-related traits, susceptibility to, 5",1,"single"],["d","MONDO:0012608","neuronopathy, distal hereditary motor, autosomal recessive 4",1,"disputed"],["d","MONDO:0012611","polyhydramnios, megalencephaly, and symptomatic epilepsy",1,"agreed"],["d","MONDO:0012612","intellectual disability, autosomal recessive 12",1,"agreed"],["d","MONDO:0012613","intellectual disability, autosomal recessive 5",1,"graded_apart"],["d","MONDO:0012614","intellectual disability, autosomal recessive 6",1,"disputed"],["d","MONDO:0012615","intellectual disability, autosomal recessive 7",1,"agreed"],["d","MONDO:0012622","leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome",1,"agreed"],["d","MONDO:0012624","acyl-CoA dehydrogenase 9 deficiency",1,"agreed"],["d","MONDO:0012625","retinitis pigmentosa 37",1,"agreed"],["d","MONDO:0012627","epilepsy, idiopathic generalized, susceptibility to, 13",1,"single"],["d","MONDO:0012634","craniofacial dysplasia - osteopenia syndrome",1,"graded_apart"],["d","MONDO:0012635","COG8-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0012637","COG1-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0012639","hereditary spastic paraplegia 18",1,"graded_apart"],["d","MONDO:0012640","Charcot-Marie-Tooth disease type 4J",1,"agreed"],["d","MONDO:0012644","asphyxiating thoracic dystrophy 2",1,"graded_apart"],["d","MONDO:0012648","isobutyryl-CoA dehydrogenase deficiency",1,"agreed"],["d","MONDO:0012650","Cernunnos-XLF deficiency",1,"agreed"],["d","MONDO:0012651","spastic ataxia 2",1,"graded_apart"],["d","MONDO:0012652","autosomal recessive limb-girdle muscular dystrophy type 2L",1,"agreed"],["d","MONDO:0012654","atrial septal defect 4",1,"agreed"],["d","MONDO:0012656","lethal congenital contracture syndrome 3",2,"disputed"],["d","MONDO:0012657","Mungan syndrome",1,"disputed"],["d","MONDO:0012658","brachydactyly type B2",1,"ungraded"],["d","MONDO:0012662","Usher syndrome type 2D",1,"graded_apart"],["d","MONDO:0012664","spastic ataxia 3",1,"graded_apart"],["d","MONDO:0012665","cataract 33",1,"graded_apart"],["d","MONDO:0012667","dilated cardiomyopathy 1W",1,"graded_apart"],["d","MONDO:0012669","Legius syndrome",1,"agreed"],["d","MONDO:0012670","autosomal recessive nonsyndromic hearing loss 63",1,"graded_apart"],["d","MONDO:0012675","corticosteroid-binding globulin deficiency",1,"graded_apart"],["d","MONDO:0012676","autosomal recessive osteopetrosis 4",1,"agreed"],["d","MONDO:0012679","autosomal recessive osteopetrosis 6",3,"disputed"],["d","MONDO:0012680","nephronophthisis 7",1,"disputed"],["d","MONDO:0012682","immunodeficiency 35",1,"agreed"],["d","MONDO:0012683","pontocerebellar hypoplasia type 6",1,"agreed"],["d","MONDO:0012684","arrhythmogenic right ventricular dysplasia 12",1,"agreed"],["d","MONDO:0012687","familial cavitary optic disk anomaly",1,"single"],["d","MONDO:0012688","cataract 17 multiple types",1,"graded_apart"],["d","MONDO:0012689","premature ovarian failure 5",1,"disputed"],["d","MONDO:0012690","Noonan syndrome 5",1,"agreed"],["d","MONDO:0012691","LEOPARD syndrome 2",1,"agreed"],["d","MONDO:0012693","glycogen storage disease due to muscle and heart glycogen synthase deficiency",1,"agreed"],["d","MONDO:0012694","Joubert syndrome 7",1,"single"],["d","MONDO:0012695","Meckel syndrome, type 5",1,"single"],["d","MONDO:0012698","Waardenburg syndrome type 2E",1,"agreed"],["d","MONDO:0012699","autosomal recessive limb-girdle muscular dystrophy type 2M",1,"agreed"],["d","MONDO:0012700","renal tubular acidosis, distal, 4, with hemolytic anemia",1,"agreed"],["d","MONDO:0012701","cataract 12 multiple types",1,"graded_apart"],["d","MONDO:0012703","lissencephaly due to TUBA1A mutation",1,"agreed"],["d","MONDO:0012704","dilated cardiomyopathy 1X",1,"disputed"],["d","MONDO:0012709","microphthalmia, isolated, with coloboma 5",1,"single"],["d","MONDO:0012714","early-onset myopathy with fatal cardiomyopathy",1,"agreed"],["d","MONDO:0012717","renal hypomagnesemia 4",1,"agreed"],["d","MONDO:0012718","hypotonia with lactic acidemia and hyperammonemia",1,"agreed"],["d","MONDO:0012719","combined PSAP deficiency",1,"agreed"],["d","MONDO:0012720","Krabbe disease due to saposin A deficiency",1,"disputed"],["d","MONDO:0012721","progressive myoclonic epilepsy type 3",1,"graded_apart"],["d","MONDO:0012723","Leber congenital amaurosis 10",1,"single"],["d","MONDO:0012724","familial cold autoinflammatory syndrome 2",1,"graded_apart"],["d","MONDO:0012725","lipoprotein glomerulopathy",1,"graded_apart"],["d","MONDO:0012726","autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome",1,"graded_apart"],["d","MONDO:0012728","Brugada syndrome 2",1,"agreed"],["d","MONDO:0012729","erythrocytosis, familial, 4",1,"disputed"],["d","MONDO:0012730","aortic aneurysm, familial thoracic 6",1,"single"],["d","MONDO:0012731","elliptocytosis 1",1,"agreed"],["d","MONDO:0012733","autosomal recessive bestrophinopathy",1,"agreed"],["d","MONDO:0012734","SERKAL syndrome",1,"disputed"],["d","MONDO:0012735","Temple-Baraitser syndrome",1,"graded_apart"],["d","MONDO:0012736","long QT syndrome 9",1,"graded_apart"],["d","MONDO:0012737","long QT syndrome 10",1,"agreed"],["d","MONDO:0012738","long QT syndrome 11",1,"agreed"],["d","MONDO:0012742","Brugada syndrome 3",1,"agreed"],["d","MONDO:0012743","Brugada syndrome 4",1,"agreed"],["d","MONDO:0012744","dilated cardiomyopathy 1Y",1,"graded_apart"],["d","MONDO:0012745","dilated cardiomyopathy 1Z",1,"graded_apart"],["d","MONDO:0012746","dilated cardiomyopathy 2A",1,"agreed"],["d","MONDO:0012747","glycogen storage disease due to aldolase A deficiency",1,"agreed"],["d","MONDO:0012748","primary ciliary dyskinesia 7",2,"agreed"],["d","MONDO:0012750","lethal arthrogryposis-anterior horn cell disease syndrome",1,"single"],["d","MONDO:0012753","amyotrophic lateral sclerosis type 9",1,"disputed"],["d","MONDO:0012758","prostate cancer, hereditary, 13",1,"single"],["d","MONDO:0012762","catecholaminergic polymorphic ventricular tachycardia 2",1,"graded_apart"],["d","MONDO:0012763","epilepsy, childhood absence, susceptibility to, 6",1,"agreed"],["d","MONDO:0012764","RIDDLE syndrome",1,"disputed"],["d","MONDO:0012775","thrombocytopenia 4",1,"disputed"],["d","MONDO:0012783","RFT1-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0012784","autosomal recessive ataxia due to ubiquinone deficiency",1,"single"],["d","MONDO:0012786","juvenile cataract-microcornea-renal glucosuria syndrome",1,"disputed"],["d","MONDO:0012787","hereditary spastic paraplegia 39",1,"agreed"],["d","MONDO:0012789","dystonia 16",1,"graded_apart"],["d","MONDO:0012790","amyotrophic lateral sclerosis type 10",1,"agreed"],["d","MONDO:0012791","mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",1,"agreed"],["d","MONDO:0012792","mitochondrial DNA depletion syndrome 8a",1,"agreed"],["d","MONDO:0012793","hypouricemia, renal, 2",1,"graded_apart"],["d","MONDO:0012794","ANE syndrome",1,"disputed"],["d","MONDO:0012796","retinitis pigmentosa 41",1,"agreed"],["d","MONDO:0012799","hypertrophic cardiomyopathy 11",1,"agreed"],["d","MONDO:0012802","oculoauricular syndrome",1,"agreed"],["d","MONDO:0012803","diarrhea-vomiting due to trehalase deficiency",1,"ungraded"],["d","MONDO:0012804","hypertrophic cardiomyopathy 12",1,"graded_apart"],["d","MONDO:0012805","childhood onset GLUT1 deficiency syndrome 2",2,"single"],["d","MONDO:0012806","ectodermal dysplasia and immunodeficiency 2",1,"agreed"],["d","MONDO:0012807","epidermolysis bullosa simplex 5C, with pyloric atresia",2,"agreed"],["d","MONDO:0012808","dilated cardiomyopathy 1AA",1,"graded_apart"],["d","MONDO:0012812","developmental and epileptic encephalopathy, 4",1,"agreed"],["d","MONDO:0012815","Coats plus syndrome",2,"ungraded"],["d","MONDO:0012816","atrial fibrillation, familial, 6",1,"graded_apart"],["d","MONDO:0012818","maturity-onset diabetes of the young type 9",1,"single"],["d","MONDO:0012820","colorectal cancer, susceptibility to, 3",1,"single"],["d","MONDO:0012824","leukodystrophy, hypomyelinating, 4",1,"disputed"],["d","MONDO:0012828","atrial fibrillation, familial, 7",1,"graded_apart"],["d","MONDO:0012831","inflammatory bowel disease 13",1,"single"],["d","MONDO:0012833","Crouzon syndrome-acanthosis nigricans syndrome",1,"agreed"],["d","MONDO:0012839","pyogenic bacterial infections due to MyD88 deficiency",1,"graded_apart"],["d","MONDO:0012843","epilepsy, childhood absence, susceptibility to, 5",1,"disputed"],["d","MONDO:0012847","autosomal recessive congenital ichthyosis 6",1,"agreed"],["d","MONDO:0012849","Joubert syndrome 9",1,"agreed"],["d","MONDO:0012850","hypophosphatemic nephrolithiasis/osteoporosis 1",1,"disputed"],["d","MONDO:0012851","hypophosphatemic nephrolithiasis/osteoporosis 2",1,"graded_apart"],["d","MONDO:0012853","Fontaine progeroid syndrome",2,"agreed"],["d","MONDO:0012854","bilateral microtia-deafness-cleft palate syndrome",1,"graded_apart"],["d","MONDO:0012855","Joubert syndrome 8",1,"graded_apart"],["d","MONDO:0012856","Birk-Barel syndrome",1,"disputed"],["d","MONDO:0012858","primary CD59 deficiency",1,"graded_apart"],["d","MONDO:0012859","autosomal recessive osteopetrosis 7",1,"agreed"],["d","MONDO:0012860","thrombophilia due to protein C deficiency, autosomal recessive",1,"agreed"],["d","MONDO:0012861","premature ovarian failure 6",1,"disputed"],["d","MONDO:0012864","chromosome 2q32-q33 deletion syndrome",1,"graded_apart"],["d","MONDO:0012866","hereditary spastic paraplegia 35",1,"agreed"],["d","MONDO:0012868","thrombophilia due to protein S deficiency, autosomal dominant",1,"agreed"],["d","MONDO:0012869","intellectual disability, autosomal dominant 22",1,"agreed"],["d","MONDO:0012871","Jervell and Lange-Nielsen syndrome 2",1,"agreed"],["d","MONDO:0012872","thrombophilia, familial, due to decreased release of tissue plasminogen activator",1,"graded_apart"],["d","MONDO:0012873","Ehlers-Danlos syndrome, spondylodysplastic type, 3",1,"disputed"],["d","MONDO:0012876","heparin cofactor 2 deficiency",1,"disputed"],["d","MONDO:0012880","hypogonadotropic hypogonadism 5 with or without anosmia",1,"single"],["d","MONDO:0012883","acute promyelocytic leukemia",1,"single"],["d","MONDO:0012885","SRD5A3-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0012888","sarcoidosis, susceptibility to, 2",1,"single"],["d","MONDO:0012890","pontocerebellar hypoplasia type 2B",1,"agreed"],["d","MONDO:0012891","pontocerebellar hypoplasia type 2C",1,"agreed"],["d","MONDO:0012892","bone fragility with contractures, arterial rupture, and deafness",1,"disputed"],["d","MONDO:0012897","congenital factor XI deficiency",1,"agreed"],["d","MONDO:0012900","cardiomyopathy, familial restrictive, 3",1,"single"],["d","MONDO:0012901","inherited prekallikrein deficiency",1,"graded_apart"],["d","MONDO:0012902","autosomal dominant nonsyndromic hearing loss 27",1,"graded_apart"],["d","MONDO:0012904","epilepsy, progressive myoclonic, 1B",1,"disputed"],["d","MONDO:0012905","leukodystrophy, hypomyelinating, 6",2,"graded_apart"],["d","MONDO:0012906","primary ciliary dyskinesia 9",1,"agreed"],["d","MONDO:0012908","complement component 6 deficiency",1,"agreed"],["d","MONDO:0012909","skeletal defects, genital hypoplasia, and intellectual disability",1,"graded_apart"],["d","MONDO:0012911","pseudohypoparathyroidism type 1C",1,"single"],["d","MONDO:0012912","pseudopseudohypoparathyroidism",1,"graded_apart"],["d","MONDO:0012918","primary ciliary dyskinesia 10",1,"graded_apart"],["d","MONDO:0012919","type 1 diabetes mellitus 20",1,"agreed"],["d","MONDO:0012923","congenital generalized lipodystrophy type 3",1,"graded_apart"],["d","MONDO:0012924","Diamond-Blackfan anemia 4",1,"agreed"],["d","MONDO:0012925","Diamond-Blackfan anemia 5",1,"agreed"],["d","MONDO:0012926","amelogenesis imperfecta hypomaturation type 2A2",1,"graded_apart"],["d","MONDO:0012928","hereditary spastic paraplegia 42",1,"agreed"],["d","MONDO:0012929","Compton-North congenital myopathy",1,"graded_apart"],["d","MONDO:0012930","autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",1,"agreed"],["d","MONDO:0012931","focal segmental glomerulosclerosis 4, susceptibility to",1,"graded_apart"],["d","MONDO:0012933","breast-ovarian cancer, familial, susceptibility to, 2",1,"agreed"],["d","MONDO:0012937","Diamond-Blackfan anemia 6",1,"agreed"],["d","MONDO:0012938","Diamond-Blackfan anemia 7",1,"agreed"],["d","MONDO:0012939","Diamond-Blackfan anemia 8",1,"agreed"],["d","MONDO:0012941","inflammatory bowel disease 25",1,"agreed"],["d","MONDO:0012943","retinitis pigmentosa 46",1,"agreed"],["d","MONDO:0012945","amyotrophic lateral sclerosis type 11",1,"disputed"],["d","MONDO:0012946","intellectual disability, autosomal dominant 3",1,"agreed"],["d","MONDO:0012947","intellectual disability, autosomal dominant 4",1,"agreed"],["d","MONDO:0012953","POLD1-related polyposis and colorectal cancer syndrome",1,"graded_apart"],["d","MONDO:0012960","intellectual disability, autosomal dominant 5",1,"agreed"],["d","MONDO:0012967","hemolytic anemia due to adenylate kinase deficiency",1,"graded_apart"],["d","MONDO:0012970","microvascular complications of diabetes, susceptibility to, 6",1,"single"],["d","MONDO:0012975","autosomal dominant nonsyndromic hearing loss 3B",1,"disputed"],["d","MONDO:0012976","autosomal dominant nonsyndromic hearing loss 2B",1,"single"],["d","MONDO:0012977","autosomal recessive nonsyndromic hearing loss 1B",1,"disputed"],["d","MONDO:0012978","primary ciliary dyskinesia 11",1,"agreed"],["d","MONDO:0012979","primary ciliary dyskinesia 12",1,"graded_apart"],["d","MONDO:0012980","endocrine-cerebro-osteodysplasia syndrome",1,"graded_apart"],["d","MONDO:0012981","hereditary spherocytosis type 4",2,"single"],["d","MONDO:0012982","episodic ataxia type 6",1,"disputed"],["d","MONDO:0012983","cone-rod dystrophy 12",1,"single"],["d","MONDO:0012984","PHARC syndrome",1,"agreed"],["d","MONDO:0012985","hereditary spherocytosis type 5",1,"agreed"],["d","MONDO:0012986","bilateral parasagittal parieto-occipital polymicrogyria",1,"single"],["d","MONDO:0012987","agammaglobulinemia 6, autosomal recessive",1,"graded_apart"],["d","MONDO:0012988","hypogonadotropic hypogonadism 6 with or without anosmia",1,"agreed"],["d","MONDO:0012989","microcephaly 7, primary, autosomal recessive",1,"agreed"],["d","MONDO:0012990","Leber congenital amaurosis 13",1,"agreed"],["d","MONDO:0012992","pancreatic insufficiency-anemia-hyperostosis syndrome",1,"ungraded"],["d","MONDO:0012994","dopa-responsive dystonia due to sepiapterin reductase deficiency",1,"agreed"],["d","MONDO:0012996","AGAT deficiency",1,"graded_apart"],["d","MONDO:0012997","cholestasis-pigmentary retinopathy-cleft palate syndrome",1,"single"],["d","MONDO:0012999","guanidinoacetate methyltransferase deficiency",1,"agreed"],["d","MONDO:0013000","porphyria due to ALA dehydratase deficiency",1,"disputed"],["d","MONDO:0013002","cone-rod dystrophy 9",1,"graded_apart"],["d","MONDO:0013005","EAST syndrome",1,"agreed"],["d","MONDO:0013006","isolated growth hormone deficiency type IB",2,"single"],["d","MONDO:0013007","combined immunodeficiency due to ORAI1 deficiency",1,"agreed"],["d","MONDO:0013008","combined immunodeficiency due to STIM1 deficiency",1,"graded_apart"],["d","MONDO:0013011","atrial septal defect 5",1,"agreed"],["d","MONDO:0013013","question mark ears, isolated",1,"disputed"],["d","MONDO:0013014","spondyloepimetaphyseal dysplasia, aggrecan type",1,"disputed"],["d","MONDO:0013015","Brugada syndrome 5",1,"graded_apart"],["d","MONDO:0013016","leukocyte adhesion deficiency 3",1,"agreed"],["d","MONDO:0013017","hypotrichosis 5",1,"single"],["d","MONDO:0013021","sterile multifocal osteomyelitis with periostitis and pustulosis",1,"graded_apart"],["d","MONDO:0013025","chromosome 6q24-q25 deletion syndrome",1,"single"],["d","MONDO:0013028","adenosine monophosphate deaminase deficiency",2,"ungraded"],["d","MONDO:0013030","dilated cardiomyopathy 1BB",1,"agreed"],["d","MONDO:0013032","epilepsy, idiopathic generalized, susceptibility to, 8",1,"agreed"],["d","MONDO:0013033","cerebral palsy, spastic quadriplegic, 2",1,"agreed"],["d","MONDO:0013034","keratosis palmoplantaris striata 2",1,"disputed"],["d","MONDO:0013039","3M syndrome 2",1,"agreed"],["d","MONDO:0013040","atypical hemolytic-uremic syndrome with MCP/CD46 anomaly",1,"agreed"],["d","MONDO:0013041","atypical hemolytic-uremic syndrome with I factor anomaly",1,"disputed"],["d","MONDO:0013042","atypical hemolytic-uremic syndrome with B factor anomaly",1,"disputed"],["d","MONDO:0013043","atypical hemolytic-uremic syndrome with C3 anomaly",1,"agreed"],["d","MONDO:0013044","atypical hemolytic-uremic syndrome with thrombomodulin anomaly",1,"agreed"],["d","MONDO:0013046","glycogen storage disease due to muscle beta-enolase deficiency",1,"agreed"],["d","MONDO:0013047","glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",1,"agreed"],["d","MONDO:0013048","hereditary spastic paraplegia 50",1,"agreed"],["d","MONDO:0013049","DPM3-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0013050","lethal polymalformative syndrome, Boissel type",1,"graded_apart"],["d","MONDO:0013051","autosomal recessive cutis laxa type 2B",1,"agreed"],["d","MONDO:0013052","retinitis pigmentosa 42",1,"graded_apart"],["d","MONDO:0013056","developmental and epileptic encephalopathy, 39",1,"graded_apart"],["d","MONDO:0013058","cystic leukoencephalopathy without megalencephaly",2,"graded_apart"],["d","MONDO:0013059","Aicardi-Goutieres syndrome 5",1,"agreed"],["d","MONDO:0013060","autosomal recessive Parkinson disease 14",1,"graded_apart"],["d","MONDO:0013061","myofibrillar myopathy 6",1,"agreed"],["d","MONDO:0013062","long QT syndrome 12",1,"agreed"],["d","MONDO:0013063","ventricular fibrillation, paroxysmal familial, 2",1,"single"],["d","MONDO:0013064","multiple synostoses syndrome 3",1,"agreed"],["d","MONDO:0013065","premature ovarian failure 7",1,"single"],["d","MONDO:0013066","46,XY sex reversal 3",1,"single"],["d","MONDO:0013069","autosomal recessive optic atrophy, OPA7 type",1,"disputed"],["d","MONDO:0013070","spermatogenic failure 7",1,"single"],["d","MONDO:0013071","Emery-Dreifuss muscular dystrophy 4, autosomal dominant",1,"disputed"],["d","MONDO:0013072","Emery-Dreifuss muscular dystrophy 5, autosomal dominant",1,"agreed"],["d","MONDO:0013073","palmoplantar keratoderma, nonepidermolytic, focal 1",1,"graded_apart"],["d","MONDO:0013074","encephalocraniocutaneous lipomatosis",1,"agreed"],["d","MONDO:0013076","attention deficit-hyperactivity disorder, susceptibility to, 7",1,"single"],["d","MONDO:0013077","Santos syndrome",1,"single"],["d","MONDO:0013081","lymphoproliferative syndrome 1",1,"graded_apart"],["d","MONDO:0013083","neuroblastoma, susceptibility to, 3",1,"agreed"],["d","MONDO:0013087","bronchiectasis with or without elevated sweat chloride 2",1,"graded_apart"],["d","MONDO:0013091","glycogen storage disease IXc",1,"agreed"],["d","MONDO:0013092","glioma susceptibility 2",1,"single"],["d","MONDO:0013099","combined pituitary hormone deficiencies, genetic form",8,"single"],["d","MONDO:0013103","epilepsy, idiopathic generalized, susceptibility to, 10",1,"disputed"],["d","MONDO:0013108","leukemia, acute lymphocytic, susceptibility to, 1",1,"single"],["d","MONDO:0013110","neurodegenerative syndrome due to cerebral folate transport deficiency",1,"agreed"],["d","MONDO:0013111","acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",1,"agreed"],["d","MONDO:0013113","metaphyseal anadysplasia 2",1,"disputed"],["d","MONDO:0013114","autosomal dominant nonsyndromic hearing loss 50",1,"graded_apart"],["d","MONDO:0013115","RIN2 syndrome",1,"agreed"],["d","MONDO:0013116","congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome",1,"graded_apart"],["d","MONDO:0013117","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",1,"agreed"],["d","MONDO:0013118","Nijmegen breakage syndrome-like disorder",1,"disputed"],["d","MONDO:0013119","autosomal recessive nonsyndromic hearing loss 77",1,"agreed"],["d","MONDO:0013120","46,XY sex reversal 5",1,"agreed"],["d","MONDO:0013122","glaucoma 3, primary congenital, D",1,"agreed"],["d","MONDO:0013123","atrial septal defect 6",1,"disputed"],["d","MONDO:0013127","asphyxiating thoracic dystrophy 3",1,"agreed"],["d","MONDO:0013128","familial juvenile hyperuricemic nephropathy type 2",1,"agreed"],["d","MONDO:0013129","cone dystrophy 4",1,"agreed"],["d","MONDO:0013130","isolated microphthalmia 4",1,"single"],["d","MONDO:0013131","polycystic kidney disease 2",1,"disputed"],["d","MONDO:0013134","glaucoma 1, open angle, O",1,"agreed"],["d","MONDO:0013135","familial hemophagocytic lymphohistiocytosis 5",1,"agreed"],["d","MONDO:0013136","hereditary hypotrichosis with recurrent skin vesicles",1,"graded_apart"],["d","MONDO:0013137","choroidal dystrophy, central areolar 2",1,"graded_apart"],["d","MONDO:0013139","neutropenia, severe congenital, 2, autosomal dominant",1,"disputed"],["d","MONDO:0013142","neuropathy, hereditary sensory and autonomic, type 2B",1,"agreed"],["d","MONDO:0013143","hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",1,"disputed"],["d","MONDO:0013144","hereditary antithrombin deficiency",1,"agreed"],["d","MONDO:0013145","Brugada syndrome 6",1,"agreed"],["d","MONDO:0013146","Brugada syndrome 7",1,"agreed"],["d","MONDO:0013147","dilated cardiomyopathy 1CC",1,"disputed"],["d","MONDO:0013148","Brugada syndrome 8",1,"graded_apart"],["d","MONDO:0013150","parkinsonism-dystonia, infantile",1,"ungraded"],["d","MONDO:0013153","inflammatory bowel disease 28",1,"graded_apart"],["d","MONDO:0013154","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",1,"agreed"],["d","MONDO:0013155","muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",1,"disputed"],["d","MONDO:0013157","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",1,"graded_apart"],["d","MONDO:0013158","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6",1,"agreed"],["d","MONDO:0013159","muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",1,"single"],["d","MONDO:0013160","muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",1,"single"],["d","MONDO:0013161","autosomal recessive limb-girdle muscular dystrophy type 2O",1,"disputed"],["d","MONDO:0013162","autosomal recessive limb-girdle muscular dystrophy type 2N",1,"ungraded"],["d","MONDO:0013163","nephronophthisis-like nephropathy 1",1,"disputed"],["d","MONDO:0013164","beta-ureidopropionase deficiency",1,"agreed"],["d","MONDO:0013165","hereditary spastic paraplegia 45",1,"graded_apart"],["d","MONDO:0013166","GABA aminotransaminase deficiency",1,"graded_apart"],["d","MONDO:0013168","dilated cardiomyopathy 1DD",1,"agreed"],["d","MONDO:0013170","cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",1,"agreed"],["d","MONDO:0013171","purine nucleoside phosphorylase deficiency",1,"agreed"],["d","MONDO:0013172","polymicrogyria with optic nerve hypoplasia",1,"agreed"],["d","MONDO:0013173","intellectual disability, autosomal recessive 13",1,"graded_apart"],["d","MONDO:0013174","primary ciliary dyskinesia 13",1,"agreed"],["d","MONDO:0013175","retinitis pigmentosa 50",1,"disputed"],["d","MONDO:0013176","Weill-Marchesani 4 syndrome, recessive",1,"graded_apart"],["d","MONDO:0013177","congenital muscular dystrophy due to integrin alpha-7 deficiency",1,"graded_apart"],["d","MONDO:0013178","congenital muscular dystrophy due to LMNA mutation",1,"ungraded"],["d","MONDO:0013179","hereditary spastic paraplegia 44",1,"single"],["d","MONDO:0013181","amelogenesis imperfecta hypomaturation type 2A3",1,"graded_apart"],["d","MONDO:0013183","congenital stationary night blindness 1C",1,"agreed"],["d","MONDO:0013184","congenital diarrhea 5 with tufting enteropathy",1,"agreed"],["d","MONDO:0013186","Noonan syndrome 6",1,"agreed"],["d","MONDO:0013187","factor XIII, A subunit, deficiency of",1,"agreed"],["d","MONDO:0013188","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",1,"agreed"],["d","MONDO:0013189","trichotillomania",1,"single"],["d","MONDO:0013190","factor XIII, b subunit, deficiency of",1,"graded_apart"],["d","MONDO:0013191","focal segmental glomerulosclerosis 5",1,"agreed"],["d","MONDO:0013193","thyrotoxic periodic paralysis, susceptibility to, 2",1,"disputed"],["d","MONDO:0013195","hypertrophic cardiomyopathy 13",1,"agreed"],["d","MONDO:0013196","Lynch syndrome 8",1,"agreed"],["d","MONDO:0013197","hypertrophic cardiomyopathy 14",1,"disputed"],["d","MONDO:0013198","dilated cardiomyopathy 1EE",1,"single"],["d","MONDO:0013199","tuberous sclerosis 2",1,"agreed"],["d","MONDO:0013200","hypertrophic cardiomyopathy 15",1,"agreed"],["d","MONDO:0013201","Waardenburg syndrome type 4B",1,"graded_apart"],["d","MONDO:0013202","Waardenburg syndrome type 4C",1,"agreed"],["d","MONDO:0013203","corneal dystrophy, Fuchs endothelial, 3",1,"single"],["d","MONDO:0013204","corneal dystrophy, Fuchs endothelial, 4",1,"disputed"],["d","MONDO:0013206","corneal dystrophy, Fuchs endothelial, 6",1,"disputed"],["d","MONDO:0013208","cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome",1,"agreed"],["d","MONDO:0013209","metabolic dysfunction-associated steatotic liver disease",1,"single"],["d","MONDO:0013210","autosomal recessive nonsyndromic hearing loss 25",1,"graded_apart"],["d","MONDO:0013211","dilated cardiomyopathy 1FF",1,"agreed"],["d","MONDO:0013212","Charcot-Marie-Tooth disease axonal type 2N",1,"agreed"],["d","MONDO:0013214","bile acid malabsorption, primary, 1",1,"agreed"],["d","MONDO:0013215","autosomal recessive nonsyndromic hearing loss 79",1,"agreed"],["d","MONDO:0013216","Diamond-Blackfan anemia 9",1,"agreed"],["d","MONDO:0013217","Diamond-Blackfan anemia 10",1,"agreed"],["d","MONDO:0013218","exudative vitreoretinopathy 5",1,"agreed"],["d","MONDO:0013219","hypophosphatemic rickets, autosomal recessive, 2",1,"single"],["d","MONDO:0013220","hemochromatosis type 2B",1,"agreed"],["d","MONDO:0013222","Miyoshi muscular dystrophy 3",1,"single"],["d","MONDO:0013223","autosomal recessive spondylometaphyseal dysplasia, Megarbane type",1,"disputed"],["d","MONDO:0013224","rhabdoid tumor predisposition syndrome 2",1,"agreed"],["d","MONDO:0013225","congenital generalized lipodystrophy type 4",1,"agreed"],["d","MONDO:0013227","congenital plasminogen activator inhibitor type 1 deficiency",1,"disputed"],["d","MONDO:0013228","spondylo-megaepiphyseal-metaphyseal dysplasia",1,"graded_apart"],["d","MONDO:0013229","hot water reflex epilepsy",1,"ungraded"],["d","MONDO:0013231","Leber congenital amaurosis 14",1,"graded_apart"],["d","MONDO:0013234","hypokalemic periodic paralysis, type 2",1,"agreed"],["d","MONDO:0013235","pancreatic cancer, susceptibility to, 2",1,"single"],["d","MONDO:0013236","pancreatic cancer, susceptibility to, 3",1,"agreed"],["d","MONDO:0013237","susceptibility to mononeuropathy of the median nerve, mild",1,"disputed"],["d","MONDO:0013240","maturity-onset diabetes of the young type 10",1,"agreed"],["d","MONDO:0013242","maturity-onset diabetes of the young type 11",1,"agreed"],["d","MONDO:0013243","neuronopathy, distal hereditary motor, type 2C",1,"agreed"],["d","MONDO:0013244","brachydactyly type E2",1,"agreed"],["d","MONDO:0013245","syndromic multisystem autoimmune disease due to ITCH deficiency",1,"agreed"],["d","MONDO:0013247","Fanconi renotubular syndrome 2",1,"agreed"],["d","MONDO:0013248","Fanconi anemia complementation group O",1,"disputed"],["d","MONDO:0013249","autosomal recessive nonsyndromic hearing loss 84A",1,"agreed"],["d","MONDO:0013251","Birbeck granule deficiency",1,"single"],["d","MONDO:0013252","Warsaw breakage syndrome",1,"agreed"],["d","MONDO:0013253","breast-ovarian cancer, familial, susceptibility to, 3",1,"disputed"],["d","MONDO:0013254","microcephaly, seizures, and developmental delay",1,"agreed"],["d","MONDO:0013255","arthrogryposis, renal dysfunction, and cholestasis 2",1,"agreed"],["d","MONDO:0013256","chromosome 15q24 deletion syndrome",1,"agreed"],["d","MONDO:0013258","autism, susceptibility to, 16",1,"agreed"],["d","MONDO:0013259","Oguchi disease-2",1,"agreed"],["d","MONDO:0013261","dilated cardiomyopathy 1R",1,"graded_apart"],["d","MONDO:0013262","dilated cardiomyopathy 1S",1,"agreed"],["d","MONDO:0013263","retinitis pigmentosa 54",1,"single"],["d","MONDO:0013264","amyotrophic lateral sclerosis type 12",1,"agreed"],["d","MONDO:0013265","autism, susceptibility to, 17",1,"agreed"],["d","MONDO:0013266","neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",1,"agreed"],["d","MONDO:0013268","frontonasal dysplasia with alopecia and genital anomaly",1,"graded_apart"],["d","MONDO:0013269","autosomal recessive nonsyndromic hearing loss 91",1,"disputed"],["d","MONDO:0013270","Rett syndrome, congenital variant",1,"agreed"],["d","MONDO:0013271","frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome",1,"agreed"],["d","MONDO:0013274","retinitis pigmentosa 51",1,"graded_apart"],["d","MONDO:0013275","hemolytic anemia due to glucophosphate isomerase deficiency",1,"agreed"],["d","MONDO:0013277","developmental and epileptic encephalopathy, 5",1,"agreed"],["d","MONDO:0013278","lymphatic malformation 3",1,"graded_apart"],["d","MONDO:0013279","long QT syndrome 13",1,"agreed"],["d","MONDO:0013281","COG4-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0013282","alpha 1-antitrypsin deficiency",1,"agreed"],["d","MONDO:0013283","immunodeficiency, common variable, 3",1,"agreed"],["d","MONDO:0013284","immunodeficiency, common variable, 4",1,"graded_apart"],["d","MONDO:0013285","immunodeficiency, common variable, 5",1,"graded_apart"],["d","MONDO:0013286","immunodeficiency, common variable, 6",1,"agreed"],["d","MONDO:0013287","agammaglobulinemia 2, autosomal recessive",1,"disputed"],["d","MONDO:0013288","agammaglobulinemia 3, autosomal recessive",1,"agreed"],["d","MONDO:0013289","agammaglobulinemia 4, autosomal recessive",1,"graded_apart"],["d","MONDO:0013290","agammaglobulinemia 5, autosomal dominant",1,"single"],["d","MONDO:0013291","glycogen storage disease XV",1,"agreed"],["d","MONDO:0013293","isolated microphthalmia 6",1,"agreed"],["d","MONDO:0013300","commissural facial cleft",2,"ungraded"],["d","MONDO:0013301","aromatase deficiency",1,"agreed"],["d","MONDO:0013302","nephronophthisis 11",1,"graded_apart"],["d","MONDO:0013303","autoimmune disease, susceptibility to, 6",1,"agreed"],["d","MONDO:0013304","von Willebrand disease 2",1,"agreed"],["d","MONDO:0013306","combined oxidative phosphorylation defect type 7",1,"graded_apart"],["d","MONDO:0013307","myopathy, lactic acidosis, and sideroblastic anemia 2",1,"graded_apart"],["d","MONDO:0013308","CBL-related disorder",1,"agreed"],["d","MONDO:0013310","congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",1,"agreed"],["d","MONDO:0013311","ectodermal dysplasia-syndactyly syndrome",1,"ungraded"],["d","MONDO:0013312","retinitis pigmentosa 55",1,"agreed"],["d","MONDO:0013314","retinitis pigmentosa 56",1,"agreed"],["d","MONDO:0013315","retinitis pigmentosa 57",1,"graded_apart"],["d","MONDO:0013316","occult macular dystrophy",1,"agreed"],["d","MONDO:0013323","cranioectodermal dysplasia 2",1,"agreed"],["d","MONDO:0013324","lymphedema-posterior choanal atresia syndrome",1,"disputed"],["d","MONDO:0013325","COG5-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0013326","Senior-Loken syndrome 7",1,"graded_apart"],["d","MONDO:0013327","primary hyperoxaluria type 3",1,"agreed"],["d","MONDO:0013328","retinitis pigmentosa 58",1,"graded_apart"],["d","MONDO:0013331","factor 5 and Factor VIII, combined deficiency of, 2",1,"agreed"],["d","MONDO:0013334","cocoon syndrome",1,"graded_apart"],["d","MONDO:0013337","neuropathy, hereditary sensory and autonomic, type 1C",1,"agreed"],["d","MONDO:0013338","Charcot-Marie-Tooth disease recessive intermediate B",1,"graded_apart"],["d","MONDO:0013339","dilated cardiomyopathy 1GG",1,"single"],["d","MONDO:0013340","Parkinson disease 5, autosomal dominant, susceptibility to",1,"single"],["d","MONDO:0013341","methylmalonic acidemia due to transcobalamin receptor defect",1,"disputed"],["d","MONDO:0013342","hereditary spastic paraplegia 48",1,"graded_apart"],["d","MONDO:0013343","C1Q deficiency",3,"graded_apart"],["d","MONDO:0013344","migraine, with or without aura, susceptibility to, 13",1,"disputed"],["d","MONDO:0013345","d-2-hydroxyglutaric aciduria 2",1,"agreed"],["d","MONDO:0013348","cone-rod dystrophy 15",1,"agreed"],["d","MONDO:0013349","ALG11-congenital disorder of glycosylation",1,"graded_apart"],["d","MONDO:0013350","mitochondrial DNA depletion syndrome 4b",1,"single"],["d","MONDO:0013351","infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",1,"agreed"],["d","MONDO:0013352","intellectual disability-severe speech delay-mild dysmorphism syndrome",1,"graded_apart"],["d","MONDO:0013353","intellectual disability, anterior maxillary protrusion, and strabismus",1,"agreed"],["d","MONDO:0013354","spastic ataxia 4",1,"agreed"],["d","MONDO:0013355","congenital dyserythropoietic anemia type 4",1,"graded_apart"],["d","MONDO:0013356","vesicoureteral reflux 3",1,"disputed"],["d","MONDO:0013359","familial hyperaldosteronism type III",1,"graded_apart"],["d","MONDO:0013361","congenital prothrombin deficiency",1,"agreed"],["d","MONDO:0013362","THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",1,"graded_apart"],["d","MONDO:0013364","Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",1,"agreed"],["d","MONDO:0013366","spondylocostal dysostosis 4, autosomal recessive",1,"agreed"],["d","MONDO:0013367","long QT syndrome 2",2,"agreed"],["d","MONDO:0013369","hypertrophic cardiomyopathy 7",1,"agreed"],["d","MONDO:0013370","long QT syndrome 6",1,"single"],["d","MONDO:0013371","dilated cardiomyopathy 1U",1,"agreed"],["d","MONDO:0013372","long QT syndrome 5",1,"disputed"],["d","MONDO:0013373","dilated cardiomyopathy 1V",1,"single"],["d","MONDO:0013375","Klippel-Feil syndrome 3, autosomal dominant",1,"agreed"],["d","MONDO:0013376","microphthalmia, isolated, with coloboma 6",1,"single"],["d","MONDO:0013377","isolated microphthalmia 7",1,"single"],["d","MONDO:0013378","orofacial cleft 10",1,"agreed"],["d","MONDO:0013379","Noonan syndrome 7",1,"graded_apart"],["d","MONDO:0013380","LEOPARD syndrome 3",1,"disputed"],["d","MONDO:0013381","neuropathy, hereditary sensory, type 1D",1,"graded_apart"],["d","MONDO:0013382","progressive demyelinating neuropathy with bilateral striatal necrosis",1,"disputed"],["d","MONDO:0013383","Hirschsprung disease, susceptibility to, 3",1,"single"],["d","MONDO:0013384","Hirschsprung disease, susceptibility to, 4",1,"agreed"],["d","MONDO:0013385","Treacher Collins syndrome 2",1,"agreed"],["d","MONDO:0013386","autosomal recessive nonsyndromic hearing loss 74",1,"graded_apart"],["d","MONDO:0013387","developmental and epileptic encephalopathy, 7",1,"agreed"],["d","MONDO:0013388","developmental and epileptic encephalopathy, 11",1,"agreed"],["d","MONDO:0013389","developmental and epileptic encephalopathy, 12",1,"graded_apart"],["d","MONDO:0013390","autosomal recessive limb-girdle muscular dystrophy type 2Q",1,"agreed"],["d","MONDO:0013391","sterol carrier protein 2 deficiency",1,"graded_apart"],["d","MONDO:0013392","autosomal recessive spinocerebellar ataxia 10",1,"graded_apart"],["d","MONDO:0013394","porencephaly-microcephaly-bilateral congenital cataract syndrome",1,"agreed"],["d","MONDO:0013395","retinitis pigmentosa 4",1,"agreed"],["d","MONDO:0013396","chromosome 1p32-p31 deletion syndrome",1,"agreed"],["d","MONDO:0013397","acne inversa, familial, 2",1,"agreed"],["d","MONDO:0013398","acne inversa, familial, 3",1,"single"],["d","MONDO:0013400","Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",1,"agreed"],["d","MONDO:0013401","hereditary spastic paraplegia 51",1,"graded_apart"],["d","MONDO:0013402","retinitis pigmentosa 27",1,"agreed"],["d","MONDO:0013403","heterotaxy, visceral, 4, autosomal",1,"disputed"],["d","MONDO:0013404","hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase",1,"agreed"],["d","MONDO:0013405","retinitis pigmentosa 49",1,"disputed"],["d","MONDO:0013407","retinitis pigmentosa 47",1,"disputed"],["d","MONDO:0013408","FADD-related immunodeficiency",1,"disputed"],["d","MONDO:0013410","46,XY sex reversal 6",1,"agreed"],["d","MONDO:0013411","cataract 16 multiple types",1,"disputed"],["d","MONDO:0013412","hypertrophic cardiomyopathy 9",1,"single"],["d","MONDO:0013413","retinitis pigmentosa 45",1,"agreed"],["d","MONDO:0013414","retinitis pigmentosa 44",1,"agreed"],["d","MONDO:0013416","age related macular degeneration 8",1,"single"],["d","MONDO:0013417","complement component 3 deficiency",1,"agreed"],["d","MONDO:0013418","aortic aneurysm, familial thoracic 7",1,"graded_apart"],["d","MONDO:0013419","complement component C1s deficiency",1,"agreed"],["d","MONDO:0013421","type II complement component 8 deficiency",1,"graded_apart"],["d","MONDO:0013422","type I complement component 8 deficiency",1,"disputed"],["d","MONDO:0013423","immunodeficiency due to MASP-2 deficiency",1,"disputed"],["d","MONDO:0013425","retinitis pigmentosa 20",1,"disputed"],["d","MONDO:0013426","aneurysm-osteoarthritis syndrome",1,"agreed"],["d","MONDO:0013427","immunodeficiency 31B",1,"disputed"],["d","MONDO:0013428","Meier-Gorlin syndrome 2",1,"graded_apart"],["d","MONDO:0013429","retinitis pigmentosa 40",1,"agreed"],["d","MONDO:0013430","Meier-Gorlin syndrome 3",1,"agreed"],["d","MONDO:0013431","Meier-Gorlin syndrome 4",1,"agreed"],["d","MONDO:0013432","Meier-Gorlin syndrome 5",1,"disputed"],["d","MONDO:0013434","primary ciliary dyskinesia 14",1,"agreed"],["d","MONDO:0013435","primary ciliary dyskinesia 15",1,"agreed"],["d","MONDO:0013436","retinitis pigmentosa 39",1,"agreed"],["d","MONDO:0013437","retinitis pigmentosa 43",1,"agreed"],["d","MONDO:0013438","pontocerebellar hypoplasia type 2D",1,"graded_apart"],["d","MONDO:0013439","congenital bile acid synthesis defect 3",1,"agreed"],["d","MONDO:0013440","autosomal recessive limb-girdle muscular dystrophy type 2P",1,"agreed"],["d","MONDO:0013441","asphyxiating thoracic dystrophy 4",1,"agreed"],["d","MONDO:0013442","nephronophthisis 12",1,"disputed"],["d","MONDO:0013443","Seckel syndrome 5",1,"single"],["d","MONDO:0013444","nephronophthisis 9",1,"agreed"],["d","MONDO:0013445","complement component 9 deficiency",1,"graded_apart"],["d","MONDO:0013446","Leber congenital amaurosis 6",1,"agreed"],["d","MONDO:0013447","retinitis pigmentosa 48",1,"disputed"],["d","MONDO:0013449","Leber congenital amaurosis 7",1,"agreed"],["d","MONDO:0013450","congenital stationary night blindness 1D",1,"agreed"],["d","MONDO:0013452","multisystemic smooth muscle dysfunction syndrome",2,"agreed"],["d","MONDO:0013453","Leber congenital amaurosis 8",1,"agreed"],["d","MONDO:0013454","Leber congenital amaurosis 11",1,"disputed"],["d","MONDO:0013455","hypertrophic cardiomyopathy 16",1,"agreed"],["d","MONDO:0013456","constitutional megaloblastic anemia with severe neurologic disease",1,"graded_apart"],["d","MONDO:0013457","Leber congenital amaurosis 15",1,"agreed"],["d","MONDO:0013458","hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome",1,"disputed"],["d","MONDO:0013459","osteogenesis imperfecta type 10",1,"graded_apart"],["d","MONDO:0013460","osteogenesis imperfecta type 12",1,"disputed"],["d","MONDO:0013461","inosine triphosphatase deficiency",1,"graded_apart"],["d","MONDO:0013462","fucosyltransferase 6 deficiency",1,"single"],["d","MONDO:0013463","congenital heart defects, multiple types, 6",1,"disputed"],["d","MONDO:0013464","episodic ataxia type 5",1,"ungraded"],["d","MONDO:0013465","achromatopsia 4",1,"graded_apart"],["d","MONDO:0013467","immunodeficiency due to ficolin3 deficiency",1,"graded_apart"],["d","MONDO:0013468","retinitis pigmentosa 59",1,"disputed"],["d","MONDO:0013469","retinitis pigmentosa 38",1,"agreed"],["d","MONDO:0013470","generalized epilepsy with febrile seizures plus, type 7",1,"disputed"],["d","MONDO:0013471","autosomal recessive nonsyndromic hearing loss 61",1,"graded_apart"],["d","MONDO:0013472","fatal infantile hypertonic myofibrillar myopathy",1,"disputed"],["d","MONDO:0013473","Hirschsprung disease, cardiac defects, and autonomic dysfunction",1,"single"],["d","MONDO:0013474","hypertrophic cardiomyopathy 17",1,"graded_apart"],["d","MONDO:0013475","hypertrophic cardiomyopathy 18",1,"disputed"],["d","MONDO:0013477","hypertrophic cardiomyopathy 20",1,"single"],["d","MONDO:0013478","PLIN1-related familial partial lipodystrophy",1,"disputed"],["d","MONDO:0013479","dilated cardiomyopathy 1HH",1,"agreed"],["d","MONDO:0013480","renal hypomagnesemia 6",1,"single"],["d","MONDO:0013482","Meckel syndrome, type 8",1,"agreed"],["d","MONDO:0013483","obesity, hyperphagia, and developmental delay",1,"agreed"],["d","MONDO:0013484","cataract 36",1,"graded_apart"],["d","MONDO:0013485","spinocerebellar ataxia type 35",1,"disputed"],["d","MONDO:0013487","recurrent Neisseria infections due to factor D deficiency",1,"disputed"],["d","MONDO:0013489","autosomal recessive nonsyndromic hearing loss 89",1,"disputed"],["d","MONDO:0013490","megalencephalic leukoencephalopathy with subcortical cysts 2A",1,"agreed"],["d","MONDO:0013491","megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",1,"graded_apart"],["d","MONDO:0013493","acetyl-coa carboxylase deficiency",1,"graded_apart"],["d","MONDO:0013495","autosomal recessive congenital ichthyosis 8",1,"disputed"],["d","MONDO:0013498","schizophrenia 15",1,"single"],["d","MONDO:0013499","Fanconi anemia complementation group P",1,"agreed"],["d","MONDO:0013500","immunodeficiency 51",1,"disputed"],["d","MONDO:0013501","frontotemporal dementia and/or amyotrophic lateral sclerosis 6",1,"agreed"],["d","MONDO:0013502","amyloidosis, primary localized cutaneous, 2",1,"agreed"],["d","MONDO:0013503","candidiasis, familial, 6",1,"agreed"],["d","MONDO:0013504","spermatogenic failure 8",1,"single"],["d","MONDO:0013505","spermatogenic failure 9",1,"agreed"],["d","MONDO:0013507","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",1,"agreed"],["d","MONDO:0013509","intellectual disability, autosomal dominant 6",1,"agreed"],["d","MONDO:0013511","cyanosis, transient neonatal",1,"disputed"],["d","MONDO:0013512","hemoglobin H disease",2,"ungraded"],["d","MONDO:0013513","atrial fibrillation, familial, 9",1,"single"],["d","MONDO:0013514","hypotrichosis 3",1,"agreed"],["d","MONDO:0013515","osteogenesis imperfecta type 6",1,"agreed"],["d","MONDO:0013516","retinitis pigmentosa 60",1,"disputed"],["d","MONDO:0013517","beta-thalassemia HBB/LCRB",1,"agreed"],["d","MONDO:0013518","pituitary hormone deficiency, combined, 6",1,"graded_apart"],["d","MONDO:0013519","dyskeratosis congenita, autosomal recessive 2",1,"disputed"],["d","MONDO:0013520","dyskeratosis congenita, autosomal recessive 3",1,"graded_apart"],["d","MONDO:0013521","dyskeratosis congenita, autosomal dominant 2",1,"graded_apart"],["d","MONDO:0013522","dyskeratosis congenita, autosomal dominant 3",1,"agreed"],["d","MONDO:0013523","Nestor-Guillermo progeria syndrome",1,"graded_apart"],["d","MONDO:0013524","bleeding diathesis due to thromboxane synthesis deficiency",1,"graded_apart"],["d","MONDO:0013525","primary ciliary dyskinesia 16",1,"graded_apart"],["d","MONDO:0013526","progressive myoclonic epilepsy type 6",1,"agreed"],["d","MONDO:0013527","lissencephaly 4",1,"graded_apart"],["d","MONDO:0013528","intellectual disability, autosomal recessive 14",1,"agreed"],["d","MONDO:0013529","catecholaminergic polymorphic ventricular tachycardia 3",1,"disputed"],["d","MONDO:0013531","PSPH deficiency",1,"graded_apart"],["d","MONDO:0013532","protein Z deficiency",1,"single"],["d","MONDO:0013533","hyperlipidemia due to hepatic triglyceride lipase deficiency",1,"disputed"],["d","MONDO:0013534","apolipoprotein c-III deficiency",1,"single"],["d","MONDO:0013536","heme oxygenase 1 deficiency",1,"disputed"],["d","MONDO:0013537","autosomal recessive nonsyndromic hearing loss 29",1,"agreed"],["d","MONDO:0013540","deafness-lymphedema-leukemia syndrome",1,"agreed"],["d","MONDO:0013541","complex cortical dysplasia with other brain malformations 1",1,"agreed"],["d","MONDO:0013542","Moyamoya disease 5",1,"agreed"],["d","MONDO:0013544","atrial fibrillation, familial, 11",1,"graded_apart"],["d","MONDO:0013545","atrial fibrillation, familial, 12",1,"single"],["d","MONDO:0013546","mitochondrial complex V (ATP synthase) deficiency, nuclear type 2",1,"agreed"],["d","MONDO:0013547","mitochondrial complex V (ATP synthase) deficiency, nuclear type 3",1,"disputed"],["d","MONDO:0013548","acetyl-CoA acetyltransferase-2 deficiency",1,"agreed"],["d","MONDO:0013549","N-acetylaspartate deficiency",1,"agreed"],["d","MONDO:0013550","distal myopathy with posterior leg and anterior hand involvement",1,"graded_apart"],["d","MONDO:0013551","hereditary spastic paraplegia 47",1,"graded_apart"],["d","MONDO:0013552","hereditary spastic paraplegia 52",1,"agreed"],["d","MONDO:0013553","immunodeficiency-centromeric instability-facial anomalies syndrome 2",1,"agreed"],["d","MONDO:0013555","Hermansky-Pudlak syndrome 3",1,"agreed"],["d","MONDO:0013556","Hermansky-Pudlak syndrome 4",1,"graded_apart"],["d","MONDO:0013557","Hermansky-Pudlak syndrome 5",1,"agreed"],["d","MONDO:0013558","Hermansky-Pudlak syndrome 6",1,"agreed"],["d","MONDO:0013559","Hermansky-Pudlak syndrome 7",1,"agreed"],["d","MONDO:0013560","Hermansky-Pudlak syndrome 8",1,"graded_apart"],["d","MONDO:0013561","chondrodysplasia with joint dislocations, gPAPP type",1,"graded_apart"],["d","MONDO:0013563","multiple congenital anomalies-hypotonia-seizures syndrome 1",1,"graded_apart"],["d","MONDO:0013565","Fanconi anemia complementation group G",1,"agreed"],["d","MONDO:0013566","Fanconi anemia complementation group L",1,"agreed"],["d","MONDO:0013567","atrial septal defect 3",1,"single"],["d","MONDO:0013569","short-rib thoracic dysplasia 7 with or without polydactyly",1,"agreed"],["d","MONDO:0013570","combined oxidative phosphorylation defect type 8",1,"graded_apart"],["d","MONDO:0013571","acatalasia",1,"graded_apart"],["d","MONDO:0013572","Keppen-Lubinsky syndrome",2,"graded_apart"],["d","MONDO:0013573","cranioectodermal dysplasia 3",1,"disputed"],["d","MONDO:0013576","recurrent infections associated with rare immunoglobulin isotypes deficiency",2,"graded_apart"],["d","MONDO:0013578","DYRK1A-related intellectual disability syndrome",1,"agreed"],["d","MONDO:0013579","methylmalonate semialdehyde dehydrogenase deficiency",1,"disputed"],["d","MONDO:0013580","pyruvate dehydrogenase E1-beta deficiency",1,"graded_apart"],["d","MONDO:0013582","mosaic variegated aneuploidy syndrome 2",1,"graded_apart"],["d","MONDO:0013583","occipital pachygyria and polymicrogyria",1,"graded_apart"],["d","MONDO:0013584","hereditary sensory neuropathy-deafness-dementia syndrome",1,"agreed"],["d","MONDO:0013585","hydrolethalus syndrome 2",1,"graded_apart"],["d","MONDO:0013587","glycogen storage disease due to lactate dehydrogenase H-subunit deficiency",1,"single"],["d","MONDO:0013588","Perrault syndrome 3",1,"agreed"],["d","MONDO:0013589","focal segmental glomerulosclerosis 6",1,"agreed"],["d","MONDO:0013590","Stickler syndrome, type 4",1,"graded_apart"],["d","MONDO:0013591","epiphyseal dysplasia, multiple, 6",1,"disputed"],["d","MONDO:0013593","autosomal dominant nonsyndromic hearing loss 64",1,"agreed"],["d","MONDO:0013594","spinocerebellar ataxia type 36",1,"agreed"],["d","MONDO:0013595","hyperbiliverdinemia",1,"graded_apart"],["d","MONDO:0013598","myostatin-related muscle hypertrophy",1,"agreed"],["d","MONDO:0013599","autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",1,"agreed"],["d","MONDO:0013601","gluthathione peroxidase deficiency",1,"single"],["d","MONDO:0013602","pheochromocytoma/paraganglioma syndrome 5",1,"agreed"],["d","MONDO:0013604","myopia 21, autosomal dominant",1,"disputed"],["d","MONDO:0013605","brittle cornea syndrome 2",1,"graded_apart"],["d","MONDO:0013606","Hermansky-Pudlak syndrome 9",1,"agreed"],["d","MONDO:0013607","monocytopenia with susceptibility to infections",1,"single"],["d","MONDO:0013608","Joubert syndrome 13",1,"agreed"],["d","MONDO:0013609","Meckel syndrome, type 10",1,"single"],["d","MONDO:0013610","retinitis pigmentosa 61",1,"agreed"],["d","MONDO:0013611","retinitis pigmentosa 62",1,"graded_apart"],["d","MONDO:0013613","Leber congenital amaurosis 16",1,"agreed"],["d","MONDO:0013615","craniosynostosis and dental anomalies",1,"graded_apart"],["d","MONDO:0013616","pigmented nodular adrenocortical disease, primary, 3",1,"disputed"],["d","MONDO:0013617","overgrowth-macrocephaly-facial dysmorphism syndrome",1,"single"],["d","MONDO:0013618","craniofacial anomalies and anterior segment dysgenesis syndrome",1,"agreed"],["d","MONDO:0013619","nephrotic syndrome, type 6",1,"disputed"],["d","MONDO:0013620","congenital myasthenic syndrome 16",1,"disputed"],["d","MONDO:0013621","LAMB2-related infantile-onset nephrotic syndrome",1,"agreed"],["d","MONDO:0013622","platelet-type bleeding disorder 9",1,"disputed"],["d","MONDO:0013623","platelet-type bleeding disorder 11",1,"agreed"],["d","MONDO:0013624","Rafiq syndrome",1,"agreed"],["d","MONDO:0013625","Parkinson disease 17",1,"graded_apart"],["d","MONDO:0013626","psoriasis 14, pustular",2,"disputed"],["d","MONDO:0013627","3M syndrome 3",1,"agreed"],["d","MONDO:0013628","hyperphosphatasia with intellectual disability syndrome 3",1,"agreed"],["d","MONDO:0013630","Meckel syndrome, type 9",1,"graded_apart"],["d","MONDO:0013633","encephalopathy, acute, infection-induced, susceptibility to, 4",1,"single"],["d","MONDO:0013634","neuropathy, hereditary sensory, type 2C",1,"disputed"],["d","MONDO:0013635","Adams-Oliver syndrome 2",1,"agreed"],["d","MONDO:0013638","Warburg micro syndrome 3",1,"agreed"],["d","MONDO:0013640","familial retinal arterial macroaneurysm",1,"disputed"],["d","MONDO:0013641","Warburg micro syndrome 2",1,"agreed"],["d","MONDO:0013642","holoprosencephaly 11",1,"graded_apart"],["d","MONDO:0013644","Charcot-Marie-Tooth disease axonal type 2O",1,"single"],["d","MONDO:0013645","autosomal recessive spinocerebellar ataxia 11",1,"agreed"],["d","MONDO:0013647","primary microcephaly-epilepsy-permanent neonatal diabetes syndrome",2,"agreed"],["d","MONDO:0013648","familial progressive hyperpigmentation",1,"ungraded"],["d","MONDO:0013651","intellectual disability, autosomal recessive 18",1,"disputed"],["d","MONDO:0013652","narcolepsy 7",1,"agreed"],["d","MONDO:0013653","Parkinson disease 18, autosomal dominant, susceptibility to",1,"graded_apart"],["d","MONDO:0013655","neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",1,"graded_apart"],["d","MONDO:0013656","intellectual disability, autosomal dominant 9",1,"graded_apart"],["d","MONDO:0013657","intellectual disability, autosomal dominant 10",1,"agreed"],["d","MONDO:0013658","intellectual disability, autosomal dominant 11",1,"agreed"],["d","MONDO:0013659","microcephaly-capillary malformation syndrome",1,"agreed"],["d","MONDO:0013661","combined malonic and methylmalonic acidemia",1,"graded_apart"],["d","MONDO:0013662","Barrett esophagus",2,"agreed"],["d","MONDO:0013663","platelet-activating factor acetylhydrolase deficiency",1,"single"],["d","MONDO:0013664","46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",2,"agreed"],["d","MONDO:0013666","Stickler syndrome, type 5",1,"agreed"],["d","MONDO:0013669","breast-ovarian cancer, familial, susceptibility to, 4",1,"disputed"],["d","MONDO:0013670","myopia, high, with cataract and vitreoretinal degeneration",1,"graded_apart"],["d","MONDO:0013671","hydatidiform mole, recurrent, 2",1,"agreed"],["d","MONDO:0013673","Wolfram-like syndrome",1,"agreed"],["d","MONDO:0013674","neurodegeneration with brain iron accumulation 4",1,"agreed"],["d","MONDO:0013675","multiple mitochondrial dysfunctions syndrome 2",1,"agreed"],["d","MONDO:0013677","Emery-Dreifuss muscular dystrophy 7, autosomal dominant",1,"single"],["d","MONDO:0013678","EDICT syndrome",1,"agreed"],["d","MONDO:0013679","sclerosteosis 2",1,"agreed"],["d","MONDO:0013680","cognitive impairment with or without cerebellar ataxia",1,"agreed"],["d","MONDO:0013681","alpha-methylacyl-CoA racemase deficiency",1,"graded_apart"],["d","MONDO:0013685","pancreatic cancer, susceptibility to, 4",1,"single"],["d","MONDO:0013686","distal myopathy, Tateyama type",1,"ungraded"],["d","MONDO:0013687","autosomal recessive spinocerebellar ataxia 12",1,"graded_apart"],["d","MONDO:0013689","ovarian dysgenesis 3",1,"graded_apart"],["d","MONDO:0013690","Pitt-Hopkins-like syndrome 2",1,"graded_apart"],["d","MONDO:0013691","Feingold syndrome type 2",1,"disputed"],["d","MONDO:0013692","BAP1-related tumor predisposition syndrome",1,"agreed"],["d","MONDO:0013693","inflammatory skin and bowel disease, neonatal, 1",1,"graded_apart"],["d","MONDO:0013696","chromosome 2p16.3 deletion syndrome",1,"single"],["d","MONDO:0013698","arthrogryposis, distal, type 1B",1,"graded_apart"],["d","MONDO:0013699","Lynch syndrome 4",1,"agreed"],["d","MONDO:0013700","pancreatic triacylglycerol lipase deficiency",1,"disputed"],["d","MONDO:0013702","intellectual disability, autosomal recessive 27",1,"agreed"],["d","MONDO:0013710","Lynch syndrome 5",1,"agreed"],["d","MONDO:0013711","peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome",1,"graded_apart"],["d","MONDO:0013712","surfactant metabolism dysfunction, pulmonary, 5",1,"disputed"],["d","MONDO:0013714","mannose-binding lectin deficiency",1,"single"],["d","MONDO:0013715","amyotrophic lateral sclerosis type 16",1,"graded_apart"],["d","MONDO:0013717","asphyxiating thoracic dystrophy 5",1,"agreed"],["d","MONDO:0013718","nephronophthisis 13",1,"single"],["d","MONDO:0013719","cranioectodermal dysplasia 4",1,"agreed"],["d","MONDO:0013720","complement component 4b deficiency",1,"disputed"],["d","MONDO:0013721","complement component 4a deficiency",1,"graded_apart"],["d","MONDO:0013722","leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",1,"agreed"],["d","MONDO:0013725","colorectal cancer, hereditary nonpolyposis, type 7",1,"graded_apart"],["d","MONDO:0013726","encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",1,"graded_apart"],["d","MONDO:0013729","pregnancy loss, recurrent, susceptibility to, 3",1,"graded_apart"],["d","MONDO:0013731","MEGF10-related myopathy",1,"agreed"],["d","MONDO:0013732","glucocorticoid therapy, response to",1,"single"],["d","MONDO:0013734","microphthalmia, syndromic 11",1,"agreed"],["d","MONDO:0013737","hereditary spastic paraplegia 46",1,"agreed"],["d","MONDO:0013739","chilblain lupus 2",1,"single"],["d","MONDO:0013740","lethal occipital encephalocele-skeletal dysplasia syndrome",1,"graded_apart"],["d","MONDO:0013741","familial temporal lobe epilepsy 5",1,"agreed"],["d","MONDO:0013743","autosomal systemic lupus erythematosus type 16",3,"graded_apart"],["d","MONDO:0013745","Joubert syndrome 14",1,"graded_apart"],["d","MONDO:0013746","ventricular septal defect 1",1,"single"],["d","MONDO:0013748","ventricular septal defect 2",1,"single"],["d","MONDO:0013750","atrial septal defect 8",1,"single"],["d","MONDO:0013751","cutis laxa, autosomal dominant 2",1,"disputed"],["d","MONDO:0013753","Charcot-Marie-Tooth disease axonal type 2P",1,"agreed"],["d","MONDO:0013754","cutis laxa, autosomal recessive, type 1B",1,"agreed"],["d","MONDO:0013755","PYCR1-related de Barsy syndrome",1,"agreed"],["d","MONDO:0013756","hypertrophic osteoarthropathy, primary, autosomal recessive, 2",1,"agreed"],["d","MONDO:0013757","congenital nongoitrous hypothyroidism 6",1,"agreed"],["d","MONDO:0013758","Charcot-Marie-Tooth disease dominant intermediate E",1,"agreed"],["d","MONDO:0013759","melanoma, cutaneous malignant, susceptibility to, 8",1,"disputed"],["d","MONDO:0013760","congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome",1,"agreed"],["d","MONDO:0013761","childhood encephalopathy due to thiamine pyrophosphokinase deficiency",1,"agreed"],["d","MONDO:0013762","lipoic acid synthetase deficiency",1,"graded_apart"],["d","MONDO:0013763","Joubert syndrome 15",1,"agreed"],["d","MONDO:0013764","Joubert syndrome 16",1,"graded_apart"],["d","MONDO:0013766","familial cold autoinflammatory syndrome 3",1,"disputed"],["d","MONDO:0013767","autoimmune lymphoproliferative syndrome type 4",1,"single"],["d","MONDO:0013768","arterial calcification, generalized, of infancy, 2",1,"agreed"],["d","MONDO:0013769","atrioventricular septal defect 5",1,"disputed"],["d","MONDO:0013770","atrial septal defect 9",1,"disputed"],["d","MONDO:0013771","transient infantile hypertriglyceridemia and hepatosteatosis",1,"agreed"],["d","MONDO:0013772","Huppke-Brendel syndrome",1,"agreed"],["d","MONDO:0013773","brain small vessel disease 2A, autosomal dominant",1,"graded_apart"],["d","MONDO:0013774","trigonocephaly 2",1,"disputed"],["d","MONDO:0013775","thrombomodulin-related bleeding disorder",1,"disputed"],["d","MONDO:0013776","spastic ataxia 5",1,"agreed"],["d","MONDO:0013777","pseudohypoaldosteronism type 2B",1,"graded_apart"],["d","MONDO:0013778","pseudohypoaldosteronism type 2C",1,"graded_apart"],["d","MONDO:0013779","Wiskott-Aldrich syndrome 2",1,"graded_apart"],["d","MONDO:0013781","pseudohypoaldosteronism type 2D",1,"agreed"],["d","MONDO:0013782","pseudohypoaldosteronism type 2E",1,"agreed"],["d","MONDO:0013783","microphthalmia, isolated, with coloboma 7",1,"agreed"],["d","MONDO:0013784","neonatal-onset encephalopathy with rigidity and seizures",1,"agreed"],["d","MONDO:0013785","intellectual disability, autosomal recessive 34",1,"agreed"],["d","MONDO:0013786","cone-rod dystrophy 16",1,"graded_apart"],["d","MONDO:0013787","psychomotor retardation, epilepsy, and craniofacial dysmorphism",1,"graded_apart"],["d","MONDO:0013788","Usher syndrome type 3B",1,"disputed"],["d","MONDO:0013789","DDOST-congenital disorder of glycosylation",1,"disputed"],["d","MONDO:0013790","mirror movements 2",1,"disputed"],["d","MONDO:0013791","thrombophilia due to protein S deficiency, autosomal recessive",1,"agreed"],["d","MONDO:0013792","intracerebral hemorrhage",1,"single"],["d","MONDO:0013794","thrombocythemia 3",1,"graded_apart"],["d","MONDO:0013800","Ehlers-Danlos syndrome, kyphoscoliotic type, 2",1,"graded_apart"],["d","MONDO:0013801","developmental and epileptic encephalopathy, 13",1,"disputed"],["d","MONDO:0013802","infantile cerebellar-retinal degeneration",1,"agreed"],["d","MONDO:0013803","leukoencephalopathy with calcifications and cysts",1,"graded_apart"],["d","MONDO:0013805","cortical dysplasia, complex, with other brain malformations 13",1,"agreed"],["d","MONDO:0013806","familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome",1,"graded_apart"],["d","MONDO:0013807","congenital stationary night blindness 1E",1,"agreed"],["d","MONDO:0013808","Maffucci syndrome",1,"single"],["d","MONDO:0013809","cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",1,"single"],["d","MONDO:0013810","COG6-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0013811","combined oxidative phosphorylation defect type 9",1,"disputed"],["d","MONDO:0013812","Baraitser-winter syndrome 2",1,"agreed"],["d","MONDO:0013815","bent bone dysplasia syndrome 1",1,"graded_apart"],["d","MONDO:0013817","preeclampsia/eclampsia 5",1,"single"],["d","MONDO:0013818","trichohepatoenteric syndrome 2",1,"graded_apart"],["d","MONDO:0013819","intellectual disability, autosomal dominant 14",1,"agreed"],["d","MONDO:0013820","intellectual disability, autosomal dominant 15",1,"graded_apart"],["d","MONDO:0013821","intellectual disability, autosomal dominant 16",1,"agreed"],["d","MONDO:0013822","acrodysostosis 2 with or without hormone resistance",1,"graded_apart"],["d","MONDO:0013823","autosomal dominant nonsyndromic hearing loss 4B",1,"single"],["d","MONDO:0013824","Joubert syndrome 17",1,"agreed"],["d","MONDO:0013825","congenital diarrhea 6",1,"disputed"],["d","MONDO:0013826","autosomal recessive nonsyndromic hearing loss 86",1,"disputed"],["d","MONDO:0013827","hyperekplexia 3",1,"agreed"],["d","MONDO:0013828","hyperekplexia 2",1,"agreed"],["d","MONDO:0013829","UV-sensitive syndrome 2",1,"single"],["d","MONDO:0013834","UV-sensitive syndrome 3",1,"agreed"],["d","MONDO:0013835","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",1,"agreed"],["d","MONDO:0013836","familial steroid-resistant nephrotic syndrome with sensorineural deafness",1,"graded_apart"],["d","MONDO:0013837","deafness-encephaloneuropathy-obesity-valvulopathy syndrome",1,"graded_apart"],["d","MONDO:0013838","coenzyme Q10 deficiency, primary, 3",1,"agreed"],["d","MONDO:0013839","hereditary sensory and autonomic neuropathy type 6",1,"disputed"],["d","MONDO:0013840","encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome",1,"agreed"],["d","MONDO:0013842","cortisone reductase deficiency 2",1,"graded_apart"],["d","MONDO:0013843","intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency",1,"agreed"],["d","MONDO:0013845","auriculocondylar syndrome 2",1,"graded_apart"],["d","MONDO:0013848","dilated cardiomyopathy 2B",1,"agreed"],["d","MONDO:0013849","microcephaly 8, primary, autosomal recessive",1,"agreed"],["d","MONDO:0013851","autosomal dominant aplasia and myelodysplasia",1,"disputed"],["d","MONDO:0013853","pontocerebellar hypoplasia type 1B",1,"agreed"],["d","MONDO:0013854","primary ciliary dyskinesia 17",1,"graded_apart"],["d","MONDO:0013859","cataract 38",1,"single"],["d","MONDO:0013861","amyotrophic lateral sclerosis type 17",1,"single"],["d","MONDO:0013862","immunodeficiency, common variable, 7",1,"graded_apart"],["d","MONDO:0013863","combined immunodeficiency due to LRBA deficiency",1,"agreed"],["d","MONDO:0013864","Cornelia de Lange syndrome 4",1,"graded_apart"],["d","MONDO:0013865","mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",1,"graded_apart"],["d","MONDO:0013866","neuronal ceroid lipofuscinosis 11",1,"graded_apart"],["d","MONDO:0013867","Brown-Vialetto-van Laere syndrome 2",1,"agreed"],["d","MONDO:0013868","porokeratosis 7, multiple types",1,"agreed"],["d","MONDO:0013869","adenine phosphoribosyltransferase deficiency",1,"agreed"],["d","MONDO:0013870","TMEM165-congenital disorder of glycosylation",1,"disputed"],["d","MONDO:0013871","Seckel syndrome 6",1,"graded_apart"],["d","MONDO:0013873","IMAGe syndrome",2,"graded_apart"],["d","MONDO:0013874","glucocorticoid deficiency 4",1,"agreed"],["d","MONDO:0013875","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",1,"agreed"],["d","MONDO:0013877","mitochondrial pyruvate carrier deficiency",2,"disputed"],["d","MONDO:0013878","pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1",1,"agreed"],["d","MONDO:0013880","facial paresis, hereditary congenital, 3",1,"graded_apart"],["d","MONDO:0013881","epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome",1,"agreed"],["d","MONDO:0013882","hyperphosphatasia with intellectual disability syndrome 2",1,"agreed"],["d","MONDO:0013883","congenital myasthenic syndrome 13",1,"agreed"],["d","MONDO:0013884","neuronopathy, distal hereditary motor, type 5B",1,"disputed"],["d","MONDO:0013885","Malan overgrowth syndrome",1,"agreed"],["d","MONDO:0013886","cerebellar dysfunction with variable cognitive and behavioral abnormalities",1,"agreed"],["d","MONDO:0013887","heterotaxy, visceral, 6, autosomal",1,"single"],["d","MONDO:0013888","tremor, hereditary essential, 4",1,"agreed"],["d","MONDO:0013889","short stature-optic atrophy-Pelger-Huët anomaly syndrome",1,"agreed"],["d","MONDO:0013890","congenital myopathy with internal nuclei and atypical cores",1,"agreed"],["d","MONDO:0013891","amyotrophic lateral sclerosis type 18",1,"graded_apart"],["d","MONDO:0013892","C3 glomerulonephritis",5,"graded_apart"],["d","MONDO:0013894","short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome",1,"agreed"],["d","MONDO:0013895","Adams-Oliver syndrome 3",1,"graded_apart"],["d","MONDO:0013896","Joubert syndrome 18",1,"agreed"],["d","MONDO:0013897","Loeys-Dietz syndrome 4",1,"agreed"],["d","MONDO:0013898","karyomegalic interstitial nephritis",1,"agreed"],["d","MONDO:0013899","Weill-Marchesani syndrome 3",1,"graded_apart"],["d","MONDO:0013900","alternating hemiplegia of childhood 2",1,"agreed"],["d","MONDO:0013901","spermatogenic failure 10",1,"single"],["d","MONDO:0013902","aortic valve disease 2",1,"graded_apart"],["d","MONDO:0013904","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",1,"graded_apart"],["d","MONDO:0013905","autosomal recessive spinocerebellar ataxia 13",1,"agreed"],["d","MONDO:0013906","amelogenesis imperfecta hypomaturation type 2A4",1,"graded_apart"],["d","MONDO:0013907","bilateral generalized polymicrogyria",1,"single"],["d","MONDO:0013910","hypogonadotropic hypogonadism 8 with or without anosmia",1,"agreed"],["d","MONDO:0013911","hypogonadotropic hypogonadism 9 with or without anosmia",1,"disputed"],["d","MONDO:0013912","hypogonadotropic hypogonadism 10 with or without anosmia",1,"agreed"],["d","MONDO:0013913","hypogonadotropic hypogonadism 11 with or without anosmia",1,"agreed"],["d","MONDO:0013914","hypogonadotropic hypogonadism 12 with or without anosmia",1,"agreed"],["d","MONDO:0013915","hypogonadotropic hypogonadism 13 with or without anosmia",1,"graded_apart"],["d","MONDO:0013916","nephronophthisis 14",1,"disputed"],["d","MONDO:0013917","nephronophthisis 15",1,"graded_apart"],["d","MONDO:0013919","epilepsy, idiopathic generalized, susceptibility to, 12",1,"single"],["d","MONDO:0013920","herpes simplex encephalitis, susceptibility to, 3",1,"single"],["d","MONDO:0013921","herpes simplex encephalitis, susceptibility to, 4",1,"disputed"],["d","MONDO:0013922","Seckel syndrome 7",1,"agreed"],["d","MONDO:0013923","microcephaly 9, primary, autosomal recessive",1,"single"],["d","MONDO:0013924","osteogenesis imperfecta type 13",1,"graded_apart"],["d","MONDO:0013925","methylmalonic acidemia with homocystinuria, type cblJ",1,"graded_apart"],["d","MONDO:0013926","hypogonadotropic hypogonadism 14 with or without anosmia",1,"disputed"],["d","MONDO:0013927","peroxisome biogenesis disorder 3A (Zellweger)",1,"agreed"],["d","MONDO:0013928","dystonia 23",1,"single"],["d","MONDO:0013929","autosomal recessive nonsyndromic hearing loss 98",1,"agreed"],["d","MONDO:0013930","peroxisome biogenesis disorder 4A (Zellweger)",1,"agreed"],["d","MONDO:0013931","peroxisome biogenesis disorder 4B",1,"single"],["d","MONDO:0013932","peroxisome biogenesis disorder 5A (Zellweger)",1,"agreed"],["d","MONDO:0013933","peroxisome biogenesis disorder 5B",1,"agreed"],["d","MONDO:0013934","combined immunodeficiency due to STK4 deficiency",2,"agreed"],["d","MONDO:0013935","Usher syndrome type 1J",1,"disputed"],["d","MONDO:0013936","peroxisome biogenesis disorder 6A (Zellweger)",1,"agreed"],["d","MONDO:0013937","peroxisome biogenesis disorder 6B",1,"graded_apart"],["d","MONDO:0013938","peroxisome biogenesis disorder 7A (Zellweger)",1,"agreed"],["d","MONDO:0013939","peroxisome biogenesis disorder 7B",1,"agreed"],["d","MONDO:0013940","primary ciliary dyskinesia 18",1,"graded_apart"],["d","MONDO:0013942","peroxisome biogenesis disorder 8A (Zellweger)",1,"graded_apart"],["d","MONDO:0013943","peroxisome biogenesis disorder 8B",1,"graded_apart"],["d","MONDO:0013944","autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",1,"disputed"],["d","MONDO:0013945","peroxisome biogenesis disorder 9B",1,"graded_apart"],["d","MONDO:0013946","hypogonadotropic hypogonadism 15 with or without anosmia",1,"agreed"],["d","MONDO:0013947","neuronopathy, distal hereditary motor, autosomal recessive 5",2,"agreed"],["d","MONDO:0013948","peroxisome biogenesis disorder 10A (Zellweger)",1,"graded_apart"],["d","MONDO:0013949","peroxisome biogenesis disorder 11A (Zellweger)",1,"agreed"],["d","MONDO:0013950","peroxisome biogenesis disorder 11B",1,"single"],["d","MONDO:0013951","peroxisome biogenesis disorder 12A (Zellweger)",1,"graded_apart"],["d","MONDO:0013952","peroxisome biogenesis disorder 13A (Zellweger)",1,"graded_apart"],["d","MONDO:0013953","immunodeficiency 28",1,"agreed"],["d","MONDO:0013954","Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency",1,"agreed"],["d","MONDO:0013955","Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",1,"agreed"],["d","MONDO:0013956","Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency",1,"graded_apart"],["d","MONDO:0013957","Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",1,"disputed"],["d","MONDO:0013959","Charcot-Marie-Tooth disease type 4F",1,"agreed"],["d","MONDO:0013960","sinoatrial node dysfunction and deafness",1,"graded_apart"],["d","MONDO:0013961","hypogonadotropic hypogonadism 16 with or without anosmia",1,"disputed"],["d","MONDO:0013962","hereditary spastic paraplegia 53",1,"graded_apart"],["d","MONDO:0013963","autosomal recessive nonsyndromic hearing loss 93",1,"agreed"],["d","MONDO:0013964","Diamond-Blackfan anemia 11",1,"graded_apart"],["d","MONDO:0013965","lethal congenital contracture syndrome 4",1,"disputed"],["d","MONDO:0013966","catecholaminergic polymorphic ventricular tachycardia 4",1,"graded_apart"],["d","MONDO:0013967","peroxisome biogenesis disorder 14B",1,"agreed"],["d","MONDO:0013968","PGM1-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0013969","combined oxidative phosphorylation defect type 11",1,"graded_apart"],["d","MONDO:0013970","branched-chain keto acid dehydrogenase kinase deficiency",1,"agreed"],["d","MONDO:0013971","leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",1,"single"],["d","MONDO:0013972","Perrault syndrome 2",1,"disputed"],["d","MONDO:0013975","ectodermal dysplasia 7, hair/nail type",1,"single"],["d","MONDO:0013976","ectodermal dysplasia 9, hair/nail type",1,"agreed"],["d","MONDO:0013977","combined oxidative phosphorylation defect type 13",1,"agreed"],["d","MONDO:0013978","autosomal recessive nonsyndromic hearing loss 70",1,"disputed"],["d","MONDO:0013979","primary ciliary dyskinesia 19",1,"agreed"],["d","MONDO:0013981","myoclonus, familial",1,"ungraded"],["d","MONDO:0013982","ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",1,"graded_apart"],["d","MONDO:0013983","ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive",1,"graded_apart"],["d","MONDO:0013984","autosomal recessive nonsyndromic hearing loss 84B",1,"agreed"],["d","MONDO:0013985","autosomal recessive nonsyndromic hearing loss 18B",1,"graded_apart"],["d","MONDO:0013986","combined oxidative phosphorylation defect type 14",1,"graded_apart"],["d","MONDO:0013987","combined oxidative phosphorylation defect type 15",1,"graded_apart"],["d","MONDO:0013989","developmental and epileptic encephalopathy, 14",1,"graded_apart"],["d","MONDO:0013990","pontocerebellar hypoplasia type 8",1,"agreed"],["d","MONDO:0013991","obesity due to congenital leptin deficiency",1,"agreed"],["d","MONDO:0013992","obesity due to leptin receptor gene deficiency",1,"agreed"],["d","MONDO:0013993","pontocerebellar hypoplasia type 7",1,"graded_apart"],["d","MONDO:0013994","Joubert syndrome 20",1,"agreed"],["d","MONDO:0013995","cholestasis, intrahepatic, of pregnancy, 3",1,"single"],["d","MONDO:0013997","focal facial dermal dysplasia type IV",1,"disputed"],["d","MONDO:0013998","MEGF8-related Carpenter syndrome",1,"graded_apart"],["d","MONDO:0013999","retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome",1,"agreed"],["d","MONDO:0014000","congenital heart defects, multiple types, 2",1,"graded_apart"],["d","MONDO:0014002","autosomal dominant nocturnal frontal lobe epilepsy 5",1,"graded_apart"],["d","MONDO:0014003","developmental and epileptic encephalopathy, 15",1,"disputed"],["d","MONDO:0014004","basal ganglia calcification, idiopathic, 4",1,"graded_apart"],["d","MONDO:0014005","immunoglobulin-mediated membranoproliferative glomerulonephritis",1,"graded_apart"],["d","MONDO:0014006","Schuurs-Hoeijmakers syndrome",1,"agreed"],["d","MONDO:0014007","Aicardi-Goutieres syndrome 6",1,"agreed"],["d","MONDO:0014008","phosphohydroxylysinuria",1,"agreed"],["d","MONDO:0014010","autosomal recessive congenital ichthyosis 9",1,"disputed"],["d","MONDO:0014011","autosomal recessive congenital ichthyosis 10",1,"graded_apart"],["d","MONDO:0014012","Charcot-Marie-Tooth disease axonal type 2Q",1,"agreed"],["d","MONDO:0014013","maternal riboflavin deficiency",1,"graded_apart"],["d","MONDO:0014014","epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive",1,"agreed"],["d","MONDO:0014015","hereditary spastic paraplegia 56",1,"agreed"],["d","MONDO:0014016","hereditary spastic paraplegia 49",1,"agreed"],["d","MONDO:0014017","intellectual developmental disorder with autism and macrocephaly",1,"single"],["d","MONDO:0014018","hereditary spastic paraplegia 54",1,"agreed"],["d","MONDO:0014019","dystonia 24",1,"agreed"],["d","MONDO:0014021","familial episodic pain syndrome with predominantly upper body involvement",1,"graded_apart"],["d","MONDO:0014022","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",1,"agreed"],["d","MONDO:0014023","congenital muscular dystrophy with intellectual disability and severe epilepsy",1,"disputed"],["d","MONDO:0014024","hereditary spastic paraplegia 43",1,"agreed"],["d","MONDO:0014025","lower motor neuron syndrome with late-adult onset",1,"agreed"],["d","MONDO:0014026","congenital stationary night blindness 1F",1,"graded_apart"],["d","MONDO:0014027","hypotrichosis 11",1,"disputed"],["d","MONDO:0014028","distal arthrogryposis type 5D",1,"agreed"],["d","MONDO:0014029","osteogenesis imperfecta type 14",1,"agreed"],["d","MONDO:0014030","primary ciliary dyskinesia 20",1,"agreed"],["d","MONDO:0014031","microcephalic primordial dwarfism, Alazami type",1,"graded_apart"],["d","MONDO:0014032","brachydactyly type A1C",1,"single"],["d","MONDO:0014033","dystonia 25",1,"agreed"],["d","MONDO:0014034","severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome",1,"agreed"],["d","MONDO:0014035","severe intellectual disability-progressive spastic diplegia syndrome",1,"agreed"],["d","MONDO:0014036","Alzheimer disease 17",1,"single"],["d","MONDO:0014037","spermatogenic failure 11",1,"graded_apart"],["d","MONDO:0014038","colorectal cancer, susceptibility to, 12",1,"agreed"],["d","MONDO:0014039","mitochondrial DNA depletion syndrome 11",1,"agreed"],["d","MONDO:0014040","autosomal recessive osteopetrosis 8",1,"agreed"],["d","MONDO:0014041","autism, susceptibility to, 19",1,"single"],["d","MONDO:0014042","left ventricular noncompaction 7",1,"graded_apart"],["d","MONDO:0014043","microcephalic primordial dwarfism due to ZNF335 deficiency",1,"graded_apart"],["d","MONDO:0014046","Cowden syndrome 4",1,"single"],["d","MONDO:0014047","Cowden syndrome 5",1,"single"],["d","MONDO:0014048","Cowden syndrome 6",1,"agreed"],["d","MONDO:0014049","urofacial syndrome 2",1,"graded_apart"],["d","MONDO:0014050","isolated microphthalmia 8",1,"agreed"],["d","MONDO:0014051","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",1,"graded_apart"],["d","MONDO:0014052","congenital myasthenic syndrome 8",1,"agreed"],["d","MONDO:0014054","lymphoproliferative syndrome 2",1,"graded_apart"],["d","MONDO:0014055","epilepsy, familial adult myoclonic, 4",1,"single"],["d","MONDO:0014056","melanoma, cutaneous malignant, susceptibility to, 9",1,"agreed"],["d","MONDO:0014057","maple syrup urine disease, mild variant",1,"graded_apart"],["d","MONDO:0014058","facial dysmorphism-immunodeficiency-livedo-short stature syndrome",1,"graded_apart"],["d","MONDO:0014059","microphthalmia, isolated, with coloboma 9",1,"graded_apart"],["d","MONDO:0014060","progressive retinal dystrophy due to retinol transport defect",1,"graded_apart"],["d","MONDO:0014061","Steel syndrome",1,"agreed"],["d","MONDO:0014062","mitochondrial DNA deletion syndrome with progressive myopathy",1,"graded_apart"],["d","MONDO:0014063","mitochondrial complex III deficiency nuclear type 2",1,"graded_apart"],["d","MONDO:0014064","mitochondrial complex III deficiency nuclear type 3",1,"disputed"],["d","MONDO:0014065","mitochondrial complex III deficiency nuclear type 4",1,"disputed"],["d","MONDO:0014066","mitochondrial complex III deficiency nuclear type 5",1,"graded_apart"],["d","MONDO:0014070","oculocutaneous albinism type 7",1,"agreed"],["d","MONDO:0014071","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",1,"graded_apart"],["d","MONDO:0014072","D,L-2-hydroxyglutaric aciduria",1,"disputed"],["d","MONDO:0014073","dilated cardiomyopathy 1II",1,"single"],["d","MONDO:0014074","Charcot-Marie-Tooth disease dominant intermediate F",1,"agreed"],["d","MONDO:0014075","cataract 39 multiple types",1,"agreed"],["d","MONDO:0014076","dyskeratosis congenita, autosomal recessive 5",1,"agreed"],["d","MONDO:0014077","cobblestone lissencephaly without muscular or ocular involvement",1,"graded_apart"],["d","MONDO:0014078","platelet-type bleeding disorder 15",1,"graded_apart"],["d","MONDO:0014080","osteosclerotic metaphyseal dysplasia",1,"single"],["d","MONDO:0014081","severe combined immunodeficiency due to CARD11 deficiency",1,"graded_apart"],["d","MONDO:0014082","cryptosporidiosis-chronic cholangitis-liver disease syndrome",1,"graded_apart"],["d","MONDO:0014083","agammaglobulinemia 7, autosomal recessive",1,"disputed"],["d","MONDO:0014084","ataxia with oculomotor apraxia type 3",1,"agreed"],["d","MONDO:0014085","hydrocephalus, nonsyndromic, autosomal recessive 2",1,"disputed"],["d","MONDO:0014086","osteogenesis imperfecta type 15",1,"agreed"],["d","MONDO:0014087","Smith-McCort dysplasia 2",1,"agreed"],["d","MONDO:0014089","corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",1,"disputed"],["d","MONDO:0014090","polydactyly, postaxial, type A6",1,"agreed"],["d","MONDO:0014091","mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B",1,"single"],["d","MONDO:0014093","retinitis pigmentosa 66",1,"agreed"],["d","MONDO:0014094","severe congenital hypochromic anemia with ringed sideroblasts",1,"graded_apart"],["d","MONDO:0014095","dilated cardiomyopathy 1JJ",1,"disputed"],["d","MONDO:0014097","congenital short bowel syndrome",2,"ungraded"],["d","MONDO:0014098","CIDEC-related familial partial lipodystrophy",1,"graded_apart"],["d","MONDO:0014099","nephrotic syndrome, type 8",1,"graded_apart"],["d","MONDO:0014100","dilated cardiomyopathy 1KK",1,"agreed"],["d","MONDO:0014101","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",1,"graded_apart"],["d","MONDO:0014102","hypogonadotropic hypogonadism 17 with or without anosmia",1,"graded_apart"],["d","MONDO:0014103","hypogonadotropic hypogonadism 18 with or without anosmia",1,"agreed"],["d","MONDO:0014104","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",1,"agreed"],["d","MONDO:0014105","hypogonadotropic hypogonadism 19 with or without anosmia",1,"agreed"],["d","MONDO:0014106","hypogonadotropic hypogonadism 20 with or without anosmia",1,"agreed"],["d","MONDO:0014107","hypogonadotropic hypogonadism 21 with or without anosmia",1,"agreed"],["d","MONDO:0014108","Fanconi anemia complementation group Q",1,"graded_apart"],["d","MONDO:0014109","NGLY1-deficiency",1,"ungraded"],["d","MONDO:0014110","cataract 15 multiple types",1,"agreed"],["d","MONDO:0014111","cataract 19 multiple types",1,"disputed"],["d","MONDO:0014112","cardiofaciocutaneous syndrome 2",1,"graded_apart"],["d","MONDO:0014113","cardiofaciocutaneous syndrome 3",1,"graded_apart"],["d","MONDO:0014114","cardiofaciocutaneous syndrome 4",1,"agreed"],["d","MONDO:0014115","hypomyelination with brain stem and spinal cord involvement and leg spasticity",1,"agreed"],["d","MONDO:0014116","complex cortical dysplasia with other brain malformations 2",1,"graded_apart"],["d","MONDO:0014117","Charcot-Marie-Tooth disease type 4B3",1,"disputed"],["d","MONDO:0014118","congenital neutropenia-myelofibrosis-nephromegaly syndrome",1,"graded_apart"],["d","MONDO:0014119","intellectual disability-strabismus syndrome",1,"graded_apart"],["d","MONDO:0014120","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13",2,"graded_apart"],["d","MONDO:0014121","autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures",1,"agreed"],["d","MONDO:0014122","myofibromatosis, infantile, 2",1,"single"],["d","MONDO:0014123","primary ciliary dyskinesia 21",1,"graded_apart"],["d","MONDO:0014124","Adams-Oliver syndrome 4",1,"graded_apart"],["d","MONDO:0014125","symphalangism, proximal, 1B",1,"graded_apart"],["d","MONDO:0014126","Perrault syndrome 4",1,"agreed"],["d","MONDO:0014128","TCF12-related craniosynostosis",1,"agreed"],["d","MONDO:0014130","Dowling-Degos disease 2",1,"graded_apart"],["d","MONDO:0014131","hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome",1,"ungraded"],["d","MONDO:0014132","multiple mitochondrial dysfunctions syndrome 3",1,"agreed"],["d","MONDO:0014133","developmental and epileptic encephalopathy, 16",1,"single"],["d","MONDO:0014134","pulmonary hypertension, primary, 2",1,"disputed"],["d","MONDO:0014135","pulmonary hypertension, primary, 3",1,"disputed"],["d","MONDO:0014136","pulmonary hypertension, primary, 4",1,"single"],["d","MONDO:0014137","precocious puberty, central, 2",1,"agreed"],["d","MONDO:0014138","nemaline myopathy 8",1,"graded_apart"],["d","MONDO:0014139","Ehlers-Danlos syndrome, spondylodysplastic type, 2",1,"agreed"],["d","MONDO:0014140","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",1,"agreed"],["d","MONDO:0014142","autosomal recessive limb-girdle muscular dystrophy type 2T",1,"graded_apart"],["d","MONDO:0014143","Noonan syndrome 8",1,"agreed"],["d","MONDO:0014144","autosomal recessive limb-girdle muscular dystrophy type R18",1,"agreed"],["d","MONDO:0014145","Leber congenital amaurosis 17",1,"single"],["d","MONDO:0014146","autosomal dominant hypocalcemia 2",1,"graded_apart"],["d","MONDO:0014147","neuronal ceroid lipofuscinosis 13",1,"agreed"],["d","MONDO:0014148","estrogen resistance syndrome",1,"disputed"],["d","MONDO:0014149","fetal akinesia-cerebral and retinal hemorrhage syndrome",1,"agreed"],["d","MONDO:0014150","developmental and epileptic encephalopathy 94",1,"agreed"],["d","MONDO:0014152","left ventricular noncompaction 8",1,"graded_apart"],["d","MONDO:0014153","cone-rod dystrophy 18",1,"graded_apart"],["d","MONDO:0014154","Charcot-Marie-Tooth disease recessive intermediate C",1,"graded_apart"],["d","MONDO:0014155","atrial fibrillation, familial, 13",1,"single"],["d","MONDO:0014156","atrial fibrillation, familial, 14",1,"graded_apart"],["d","MONDO:0014157","mandibular hypoplasia-deafness-progeroid syndrome",1,"agreed"],["d","MONDO:0014158","nephronophthisis 16",1,"agreed"],["d","MONDO:0014159","autosomal recessive spinocerebellar ataxia 14",1,"agreed"],["d","MONDO:0014160","TCR-alpha-beta-positive T-cell deficiency",1,"graded_apart"],["d","MONDO:0014162","infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",1,"graded_apart"],["d","MONDO:0014163","left ventricular noncompaction 10",1,"single"],["d","MONDO:0014164","Meckel syndrome, type 11",1,"single"],["d","MONDO:0014165","multiple congenital anomalies-hypotonia-seizures syndrome 3",1,"agreed"],["d","MONDO:0014167","epilepsy, familial adult myoclonic, 5",1,"disputed"],["d","MONDO:0014168","severe combined immunodeficiency due to CORO1A deficiency",1,"graded_apart"],["d","MONDO:0014169","dyschromatosis universalis hereditaria 3",1,"disputed"],["d","MONDO:0014170","complex cortical dysplasia with other brain malformations 3",1,"graded_apart"],["d","MONDO:0014171","complex cortical dysplasia with other brain malformations 4",1,"graded_apart"],["d","MONDO:0014172","spermatogenic failure 12",1,"single"],["d","MONDO:0014173","microcephaly 11, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0014174","renal-hepatic-pancreatic dysplasia 2",1,"agreed"],["d","MONDO:0014175","mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive",1,"graded_apart"],["d","MONDO:0014176","hypotonia, infantile, with psychomotor retardation and characteristic facies",1,"single"],["d","MONDO:0014177","myopia 22, autosomal dominant",1,"single"],["d","MONDO:0014178","inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2",1,"disputed"],["d","MONDO:0014179","inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3",1,"agreed"],["d","MONDO:0014180","epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency",1,"graded_apart"],["d","MONDO:0014181","amyotrophic lateral sclerosis type 20",1,"agreed"],["d","MONDO:0014182","autosomal recessive nonsyndromic hearing loss 88",1,"agreed"],["d","MONDO:0014183","myopia 23, autosomal recessive",1,"disputed"],["d","MONDO:0014184","specific language impairment 5",1,"agreed"],["d","MONDO:0014186","retinitis pigmentosa with or without situs inversus",1,"agreed"],["d","MONDO:0014187","aortic aneurysm, familial thoracic 8",1,"graded_apart"],["d","MONDO:0014189","age related macular degeneration 13",1,"agreed"],["d","MONDO:0014190","combined oxidative phosphorylation defect type 17",1,"agreed"],["d","MONDO:0014191","catecholaminergic polymorphic ventricular tachycardia 5",1,"agreed"],["d","MONDO:0014192","primary ciliary dyskinesia 22",1,"agreed"],["d","MONDO:0014193","primary ciliary dyskinesia 23",1,"agreed"],["d","MONDO:0014194","mitochondrial complex III deficiency nuclear type 6",1,"disputed"],["d","MONDO:0014195","microcornea-myopic chorioretinal atrophy",1,"agreed"],["d","MONDO:0014196","Hartsfield-Bixler-Demyer syndrome",1,"graded_apart"],["d","MONDO:0014197","combined immunodeficiency due to MALT1 deficiency",1,"graded_apart"],["d","MONDO:0014198","mitochondrial DNA depletion syndrome 13",1,"agreed"],["d","MONDO:0014199","developmental and epileptic encephalopathy, 17",1,"agreed"],["d","MONDO:0014200","aldosterone-producing adenoma with seizures and neurological abnormalities",1,"graded_apart"],["d","MONDO:0014201","developmental and epileptic encephalopathy, 18",1,"agreed"],["d","MONDO:0014202","primary ciliary dyskinesia 24",1,"graded_apart"],["d","MONDO:0014203","primary ciliary dyskinesia 25",1,"agreed"],["d","MONDO:0014204","basal ganglia calcification, idiopathic, 5",1,"graded_apart"],["d","MONDO:0014205","severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome",1,"agreed"],["d","MONDO:0014206","severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",1,"agreed"],["d","MONDO:0014208","Charcot-Marie-Tooth disease type 2R",1,"disputed"],["d","MONDO:0014209","early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",1,"graded_apart"],["d","MONDO:0014210","intellectual disability-hypotonia-spasticity-sleep disorder syndrome",1,"disputed"],["d","MONDO:0014211","primary ciliary dyskinesia 26",1,"graded_apart"],["d","MONDO:0014212","sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",1,"graded_apart"],["d","MONDO:0014213","CTCF-related neurodevelopmental disorder",1,"agreed"],["d","MONDO:0014214","short-rib thoracic dysplasia 8 with or without polydactyly",1,"agreed"],["d","MONDO:0014215","primary ciliary dyskinesia 27",1,"agreed"],["d","MONDO:0014216","primary ciliary dyskinesia 28",1,"agreed"],["d","MONDO:0014217","telangiectasia, hereditary hemorrhagic, type 5",1,"disputed"],["d","MONDO:0014218","severe dermatitis-multiple allergies-metabolic wasting syndrome",2,"agreed"],["d","MONDO:0014219","alacrima, achalasia, and intellectual disability syndrome",1,"agreed"],["d","MONDO:0014220","myopathy due to myoadenylate deaminase deficiency",1,"disputed"],["d","MONDO:0014221","triosephosphate isomerase deficiency",1,"agreed"],["d","MONDO:0014222","immunodeficiency 14",1,"agreed"],["d","MONDO:0014223","amyotrophic lateral sclerosis type 19",1,"disputed"],["d","MONDO:0014224","developmental delay with autism spectrum disorder and gait instability",1,"graded_apart"],["d","MONDO:0014225","hemochromatosis type 5",1,"graded_apart"],["d","MONDO:0014226","idiopathic CD4 lymphocytopenia",1,"single"],["d","MONDO:0014227","hypopigmentation-punctate palmoplantar keratoderma syndrome",1,"disputed"],["d","MONDO:0014228","corneal dystrophy, Fuchs endothelial, 8",1,"agreed"],["d","MONDO:0014229","microphthalmia, syndromic 12",1,"graded_apart"],["d","MONDO:0014230","candidiasis, familial, 8",1,"graded_apart"],["d","MONDO:0014231","juvenile onset Parkinson disease 19A",1,"graded_apart"],["d","MONDO:0014232","craniosynostosis 5, susceptibility to",1,"single"],["d","MONDO:0014233","early-onset Parkinson disease 20",1,"graded_apart"],["d","MONDO:0014234","reticulate acropigmentation of Kitamura",1,"graded_apart"],["d","MONDO:0014236","Ehlers-Danlos syndrome, musculocontractural type 2",1,"graded_apart"],["d","MONDO:0014237","autosomal recessive nonsyndromic hearing loss 76",1,"agreed"],["d","MONDO:0014238","severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome",1,"graded_apart"],["d","MONDO:0014239","testicular anomalies with or without congenital heart disease",1,"graded_apart"],["d","MONDO:0014240","periventricular nodular heterotopia 6",1,"agreed"],["d","MONDO:0014241","leukemia, acute lymphoblastic, susceptibility to, 3",1,"disputed"],["d","MONDO:0014242","van Maldergem syndrome 2",1,"single"],["d","MONDO:0014243","Schaaf-Yang syndrome",1,"agreed"],["d","MONDO:0014244","hereditary sensory and autonomic neuropathy type 7",1,"agreed"],["d","MONDO:0014245","Diamond-Blackfan anemia 12",1,"agreed"],["d","MONDO:0014246","episodic pain syndrome, familial, 2",1,"disputed"],["d","MONDO:0014247","familial episodic pain syndrome with predominantly lower limb involvement",1,"agreed"],["d","MONDO:0014248","autism spectrum disorder - epilepsy - arthrogryposis syndrome",1,"agreed"],["d","MONDO:0014250","familial hyperprolactinemia",1,"single"],["d","MONDO:0014252","familial hypobetalipoproteinemia 1",1,"agreed"],["d","MONDO:0014254","otofaciocervical syndrome 2",1,"disputed"],["d","MONDO:0014255","complement factor b deficiency",1,"single"],["d","MONDO:0014256","retinitis pigmentosa 67",1,"graded_apart"],["d","MONDO:0014257","nephrotic syndrome, type 9",1,"agreed"],["d","MONDO:0014258","congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome",1,"agreed"],["d","MONDO:0014259","neuronopathy, distal hereditary motor, type 2D",1,"graded_apart"],["d","MONDO:0014260","immunodeficiency, common variable, 10",1,"graded_apart"],["d","MONDO:0014261","growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",1,"graded_apart"],["d","MONDO:0014262","Rienhoff syndrome",1,"graded_apart"],["d","MONDO:0014263","8q24.3 microdeletion syndrome",1,"agreed"],["d","MONDO:0014267","severe combined immunodeficiency due to IKK2 deficiency",1,"agreed"],["d","MONDO:0014268","combined immunodeficiency due to OX40 deficiency",1,"agreed"],["d","MONDO:0014269","combined oxidative phosphorylation deficiency 19",1,"graded_apart"],["d","MONDO:0014270","STT3A-congenital disorder of glycosylation",1,"disputed"],["d","MONDO:0014271","STT3B-congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0014272","palmoplantar keratoderma, Nagashima type",1,"agreed"],["d","MONDO:0014273","microcephaly-thin corpus callosum-intellectual disability syndrome",1,"disputed"],["d","MONDO:0014274","L-ferritin deficiency",1,"disputed"],["d","MONDO:0014275","Fanconi renotubular syndrome 3",1,"disputed"],["d","MONDO:0014276","combined immunodeficiency due to CD3gamma deficiency",1,"agreed"],["d","MONDO:0014278","immunodeficiency 18",1,"agreed"],["d","MONDO:0014280","immunodeficiency 19",1,"agreed"],["d","MONDO:0014282","hereditary spastic paraplegia 72",1,"graded_apart"],["d","MONDO:0014283","autosomal dominant nonsyndromic hearing loss 56",1,"graded_apart"],["d","MONDO:0014284","short-rib thoracic dysplasia 10 with or without polydactyly",1,"graded_apart"],["d","MONDO:0014285","congenital dyserythropoietic anemia type type 1B",1,"single"],["d","MONDO:0014286","neuropathy, hereditary sensory, type 1F",1,"graded_apart"],["d","MONDO:0014287","short-rib thoracic dysplasia 11 with or without polydactyly",1,"graded_apart"],["d","MONDO:0014288","Joubert syndrome 21",1,"agreed"],["d","MONDO:0014289","macrocephaly-developmental delay syndrome",1,"agreed"],["d","MONDO:0014290","neurodegeneration with brain iron accumulation 6",1,"disputed"],["d","MONDO:0014292","leukoencephalopathy with mild cerebellar ataxia and white matter edema",1,"graded_apart"],["d","MONDO:0014293","autosomal dominant nonsyndromic hearing loss 58",2,"single"],["d","MONDO:0014295","hereditary spastic paraplegia 57",1,"disputed"],["d","MONDO:0014296","Warburg micro syndrome 4",1,"graded_apart"],["d","MONDO:0014297","Joubert syndrome 22",1,"disputed"],["d","MONDO:0014298","chromosome 5q12 deletion syndrome",1,"ungraded"],["d","MONDO:0014299","LZTR1-related schwannomatosis",1,"agreed"],["d","MONDO:0014300","proximal myopathy with extrapyramidal signs",1,"agreed"],["d","MONDO:0014302","hereditary spastic paraplegia 62",1,"disputed"],["d","MONDO:0014303","hereditary spastic paraplegia 64",1,"disputed"],["d","MONDO:0014304","hereditary spastic paraplegia 61",1,"agreed"],["d","MONDO:0014305","hereditary spastic paraplegia 63",1,"single"],["d","MONDO:0014306","deficiency of adenosine deaminase 2",1,"agreed"],["d","MONDO:0014307","Dowling-Degos disease 4",1,"graded_apart"],["d","MONDO:0014309","obesity due to CEP19 deficiency",1,"graded_apart"],["d","MONDO:0014310","hereditary sclerosing poikiloderma with tendon and pulmonary involvement",1,"graded_apart"],["d","MONDO:0014311","autosomal recessive spinocerebellar ataxia 15",1,"disputed"],["d","MONDO:0014312","auriculocondylar syndrome 3",1,"graded_apart"],["d","MONDO:0014313","autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",1,"single"],["d","MONDO:0014314","sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome",1,"single"],["d","MONDO:0014315","Mitchell-Riley syndrome",1,"single"],["d","MONDO:0014317","pancytopenia-developmental delay syndrome",1,"agreed"],["d","MONDO:0014318","hyperphosphatasia with intellectual disability syndrome 4",1,"agreed"],["d","MONDO:0014319","renal hypodysplasia/aplasia 2",1,"graded_apart"],["d","MONDO:0014320","Bosch-Boonstra-Schaaf optic atrophy syndrome",1,"agreed"],["d","MONDO:0014321","premature ovarian failure 8",1,"agreed"],["d","MONDO:0014322","premature ovarian failure 9",1,"disputed"],["d","MONDO:0014323","retinitis pigmentosa 68",1,"disputed"],["d","MONDO:0014324","pachyonychia congenita 3",1,"agreed"],["d","MONDO:0014325","pachyonychia congenita 4",1,"graded_apart"],["d","MONDO:0014326","nemaline myopathy 9",1,"graded_apart"],["d","MONDO:0014327","palmoplantar keratoderma, nonepidermolytic, focal or diffuse",1,"graded_apart"],["d","MONDO:0014328","developmental and epileptic encephalopathy, 19",1,"agreed"],["d","MONDO:0014329","atrial standstill 2",1,"single"],["d","MONDO:0014331","Moyamoya disease with early-onset achalasia",1,"agreed"],["d","MONDO:0014332","hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency",1,"graded_apart"],["d","MONDO:0014334","severe combined immunodeficiency due to LCK deficiency",1,"disputed"],["d","MONDO:0014335","diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",1,"agreed"],["d","MONDO:0014336","intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency",1,"agreed"],["d","MONDO:0014337","complex cortical dysplasia with other brain malformations 5",1,"agreed"],["d","MONDO:0014338","IL21-related infantile inflammatory bowel disease",1,"agreed"],["d","MONDO:0014339","autosomal recessive spinocerebellar ataxia 16",1,"agreed"],["d","MONDO:0014340","atrial fibrillation, familial, 15",1,"agreed"],["d","MONDO:0014341","complex cortical dysplasia with other brain malformations 6",1,"graded_apart"],["d","MONDO:0014342","female infertility due to zona pellucida defect",3,"graded_apart"],["d","MONDO:0014343","Desbuquois dysplasia 2",1,"agreed"],["d","MONDO:0014344","congenital heart defects, multiple types, 4",1,"graded_apart"],["d","MONDO:0014345","retinitis pigmentosa 69",1,"agreed"],["d","MONDO:0014346","white sponge nevus 2",1,"graded_apart"],["d","MONDO:0014347","Rothmund-Thomson syndrome type 3",1,"graded_apart"],["d","MONDO:0014348","intellectual disability, autosomal recessive 42",1,"agreed"],["d","MONDO:0014349","pontocerebellar hypoplasia type 10",1,"disputed"],["d","MONDO:0014350","Seckel syndrome 8",1,"disputed"],["d","MONDO:0014351","pontocerebellar hypoplasia type 9",1,"agreed"],["d","MONDO:0014352","abdominal obesity-metabolic syndrome 3",1,"graded_apart"],["d","MONDO:0014353","immunodeficiency 23",1,"agreed"],["d","MONDO:0014354","intellectual disability, autosomal recessive 43",1,"disputed"],["d","MONDO:0014355","cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis",1,"graded_apart"],["d","MONDO:0014356","mitochondrial complex III deficiency nuclear type 7",1,"disputed"],["d","MONDO:0014357","intellectual disability, autosomal dominant 24",1,"agreed"],["d","MONDO:0014358","AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",1,"agreed"],["d","MONDO:0014359","pigmented nodular adrenocortical disease, primary, 4",1,"single"],["d","MONDO:0014360","developmental and epileptic encephalopathy, 21",1,"graded_apart"],["d","MONDO:0014361","autism spectrum disorder due to AUTS2 deficiency",1,"agreed"],["d","MONDO:0014363","autosomal recessive nonsyndromic hearing loss 101",1,"agreed"],["d","MONDO:0014364","mitochondrial complex III deficiency nuclear type 8",1,"single"],["d","MONDO:0014365","spermatogenic failure 13",1,"single"],["d","MONDO:0014366","spermatogenic failure 14",1,"graded_apart"],["d","MONDO:0014367","Aicardi-Goutieres syndrome 7",1,"agreed"],["d","MONDO:0014368","tumor predisposition syndrome 3",1,"graded_apart"],["d","MONDO:0014369","postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",1,"graded_apart"],["d","MONDO:0014370","pontocerebellar hypoplasia type 2E",1,"agreed"],["d","MONDO:0014371","developmental and epileptic encephalopathy, 23",1,"graded_apart"],["d","MONDO:0014372","cone-rod dystrophy 19",1,"graded_apart"],["d","MONDO:0014373","nephrotic syndrome, type 10",1,"disputed"],["d","MONDO:0014374","nephronophthisis 18",1,"graded_apart"],["d","MONDO:0014375","congenital diarrhea 7 with exudative enteropathy",2,"graded_apart"],["d","MONDO:0014376","intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",1,"agreed"],["d","MONDO:0014377","developmental and epileptic encephalopathy, 24",1,"agreed"],["d","MONDO:0014378","primary ciliary dyskinesia 29",1,"graded_apart"],["d","MONDO:0014379","ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder",1,"agreed"],["d","MONDO:0014380","colobomatous microphthalmia-rhizomelic dysplasia syndrome",1,"graded_apart"],["d","MONDO:0014381","cholestasis, progressive familial intrahepatic, 4",1,"agreed"],["d","MONDO:0014382","Tatton-Brown-Rahman overgrowth syndrome",1,"agreed"],["d","MONDO:0014383","myopathy, tubular aggregate, 2",1,"single"],["d","MONDO:0014384","hypotrichosis 12",1,"disputed"],["d","MONDO:0014385","amelogenesis imperfecta hypomaturation type 2A5",1,"graded_apart"],["d","MONDO:0014386","platelet-type bleeding disorder 18",1,"agreed"],["d","MONDO:0014387","leukoencephalopathy, progressive, with ovarian failure",1,"graded_apart"],["d","MONDO:0014389","polyglucosan body myopathy 1 with or without immunodeficiency",1,"graded_apart"],["d","MONDO:0014390","hypotrichosis 13",1,"graded_apart"],["d","MONDO:0014391","combined immunodeficiency due to CTPS1 deficiency",1,"agreed"],["d","MONDO:0014392","developmental and epileptic encephalopathy, 25",1,"agreed"],["d","MONDO:0014393","lymphatic malformation 4",1,"agreed"],["d","MONDO:0014394","Diamond-Blackfan anemia 13",1,"graded_apart"],["d","MONDO:0014395","frontotemporal dementia and/or amyotrophic lateral sclerosis 2",1,"graded_apart"],["d","MONDO:0014396","dilated cardiomyopathy 1NN",1,"disputed"],["d","MONDO:0014397","combined oxidative phosphorylation defect type 20",1,"graded_apart"],["d","MONDO:0014398","combined oxidative phosphorylation defect type 21",1,"graded_apart"],["d","MONDO:0014399","ataxia-telangiectasia-like disorder 2",1,"agreed"],["d","MONDO:0014400","retinitis pigmentosa 70",1,"agreed"],["d","MONDO:0014401","tall stature-scoliosis-macrodactyly of the great toes syndrome",1,"graded_apart"],["d","MONDO:0014402","severe neurodegenerative syndrome with lipodystrophy",1,"disputed"],["d","MONDO:0014403","short stature due to GHSR deficiency",1,"disputed"],["d","MONDO:0014404","Webb-Dattani syndrome",1,"disputed"],["d","MONDO:0014405","STING-associated vasculopathy with onset in infancy",1,"agreed"],["d","MONDO:0014406","pancreatic agenesis 2",1,"agreed"],["d","MONDO:0014407","megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",1,"agreed"],["d","MONDO:0014408","megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3",1,"agreed"],["d","MONDO:0014409","intellectual disability, autosomal recessive 44",1,"graded_apart"],["d","MONDO:0014410","spinocerebellar ataxia type 37",1,"disputed"],["d","MONDO:0014411","myopia 24, autosomal dominant",1,"disputed"],["d","MONDO:0014412","hyperlipoproteinemia, type 1D",1,"graded_apart"],["d","MONDO:0014413","orofaciodigital syndrome type 14",1,"agreed"],["d","MONDO:0014414","STAT3-related early-onset multisystem autoimmune disease",2,"agreed"],["d","MONDO:0014416","ACTH-independent macronodular adrenal hyperplasia 2",1,"agreed"],["d","MONDO:0014417","spinocerebellar ataxia type 38",1,"graded_apart"],["d","MONDO:0014418","myopathy, centronuclear, 5",1,"agreed"],["d","MONDO:0014419","ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome",1,"agreed"],["d","MONDO:0014420","short stature due to primary acid-labile subunit deficiency",1,"agreed"],["d","MONDO:0014421","glucocorticoid resistance",1,"agreed"],["d","MONDO:0014422","vesicoureteral reflux 8",1,"single"],["d","MONDO:0014423","severe combined immunodeficiency due to DNA-PKcs deficiency",1,"disputed"],["d","MONDO:0014424","congenital deficiency in alpha-fetoprotein",1,"graded_apart"],["d","MONDO:0014425","hereditary persistence of alpha-fetoprotein",1,"single"],["d","MONDO:0014426","nanophthalmos 4",1,"disputed"],["d","MONDO:0014427","cone-rod dystrophy 20",1,"agreed"],["d","MONDO:0014428","autosomal recessive nonsyndromic hearing loss 102",1,"graded_apart"],["d","MONDO:0014429","autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",1,"agreed"],["d","MONDO:0014430","intellectual disability, autosomal recessive 45",1,"single"],["d","MONDO:0014431","LIPE-related familial partial lipodystrophy",1,"agreed"],["d","MONDO:0014432","Bardet-Biedl syndrome 2",1,"agreed"],["d","MONDO:0014433","Bardet-Biedl syndrome 4",1,"agreed"],["d","MONDO:0014434","Bardet-Biedl syndrome 5",1,"agreed"],["d","MONDO:0014435","Bardet-Biedl syndrome 7",1,"agreed"],["d","MONDO:0014436","Bardet-Biedl syndrome 8",1,"graded_apart"],["d","MONDO:0014437","Bardet-Biedl syndrome 9",1,"agreed"],["d","MONDO:0014438","Bardet-Biedl syndrome 10",1,"agreed"],["d","MONDO:0014439","Bardet-Biedl syndrome 11",1,"disputed"],["d","MONDO:0014440","Bardet-Biedl syndrome 12",1,"agreed"],["d","MONDO:0014441","Bardet-Biedl syndrome 13",1,"disputed"],["d","MONDO:0014442","Bardet-Biedl syndrome 14",1,"graded_apart"],["d","MONDO:0014443","Bardet-Biedl syndrome 15",1,"disputed"],["d","MONDO:0014444","Bardet-Biedl syndrome 16",1,"graded_apart"],["d","MONDO:0014445","Bardet-Biedl syndrome 17",1,"graded_apart"],["d","MONDO:0014446","Bardet-Biedl syndrome 18",1,"disputed"],["d","MONDO:0014447","Bardet-Biedl syndrome 19",1,"disputed"],["d","MONDO:0014448","hyperthyroxinemia, familial dysalbuminemic",1,"disputed"],["d","MONDO:0014449","congenital analbuminemia",1,"agreed"],["d","MONDO:0014450","breasts and/or nipples, aplasia or hypoplasia of, 2",1,"disputed"],["d","MONDO:0014451","focal segmental glomerulosclerosis 7",1,"single"],["d","MONDO:0014452","familial dysfibrinogenemia",3,"agreed"],["d","MONDO:0014453","immunodeficiency 36 with lymphoproliferation",1,"agreed"],["d","MONDO:0014454","Hennekam lymphangiectasia-lymphedema syndrome 2",1,"agreed"],["d","MONDO:0014455","cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",1,"disputed"],["d","MONDO:0014456","autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",1,"agreed"],["d","MONDO:0014457","hyperphosphatasia with intellectual disability syndrome 5",1,"disputed"],["d","MONDO:0014458","Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young",1,"agreed"],["d","MONDO:0014459","Adams-Oliver syndrome 5",1,"agreed"],["d","MONDO:0014460","nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome",1,"graded_apart"],["d","MONDO:0014461","hypogonadotropic hypogonadism 22 with or without anosmia",1,"graded_apart"],["d","MONDO:0014462","focal segmental glomerulosclerosis 8",1,"disputed"],["d","MONDO:0014464","progressive encephalopathy with leukodystrophy due to DECR deficiency",2,"disputed"],["d","MONDO:0014465","primary ciliary dyskinesia 30",1,"agreed"],["d","MONDO:0014466","Neu-Laxova syndrome 2",1,"graded_apart"],["d","MONDO:0014467","Charcot-Marie-Tooth disease recessive intermediate D",1,"disputed"],["d","MONDO:0014468","congenital myasthenic syndrome 7",1,"graded_apart"],["d","MONDO:0014469","autosomal recessive nonsyndromic hearing loss 103",1,"agreed"],["d","MONDO:0014470","autosomal dominant nonsyndromic hearing loss 65",1,"disputed"],["d","MONDO:0014471","mitochondrial proton-transporting ATP synthase complex deficiency",7,"single"],["d","MONDO:0014472","periodic fever-infantile enterocolitis-autoinflammatory syndrome",1,"agreed"],["d","MONDO:0014473","microcephaly 13, primary, autosomal recessive",1,"agreed"],["d","MONDO:0014474","autosomal recessive limb-girdle muscular dystrophy type 2U",1,"ungraded"],["d","MONDO:0014475","spinocerebellar ataxia type 40",2,"graded_apart"],["d","MONDO:0014477","developmental and epileptic encephalopathy, 26",1,"agreed"],["d","MONDO:0014478","mirror movements 3",1,"single"],["d","MONDO:0014479","porokeratosis 8, disseminated superficial actinic type",1,"single"],["d","MONDO:0014480","46,XY sex reversal 9",1,"disputed"],["d","MONDO:0014481","inflammatory skin and bowel disease, neonatal, 2",1,"disputed"],["d","MONDO:0014482","intellectual disability, autosomal dominant 29",1,"agreed"],["d","MONDO:0014483","retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies",1,"agreed"],["d","MONDO:0014484","microcephaly 12, primary, autosomal recessive",1,"single"],["d","MONDO:0014485","pontocerebellar hypoplasia, type 1C",1,"disputed"],["d","MONDO:0014486","intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities",1,"agreed"],["d","MONDO:0014487","congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",1,"agreed"],["d","MONDO:0014489","limb-girdle muscular dystrophy due to POMK deficiency",1,"ungraded"],["d","MONDO:0014490","ketoacidosis due to monocarboxylate transporter-1 deficiency",1,"agreed"],["d","MONDO:0014491","immunodeficiency 37",1,"graded_apart"],["d","MONDO:0014492","wooly hair-palmoplantar keratoderma syndrome",1,"agreed"],["d","MONDO:0014493","autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency",1,"agreed"],["d","MONDO:0014494","psoriasis 15, pustular, susceptibility to",1,"graded_apart"],["d","MONDO:0014495","retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome",1,"disputed"],["d","MONDO:0014496","mitochondrial complex III deficiency nuclear type 9",1,"single"],["d","MONDO:0014497","polyendocrine-polyneuropathy syndrome",1,"agreed"],["d","MONDO:0014498","familial cold autoinflammatory syndrome 4",1,"single"],["d","MONDO:0014499","intellectual disability, autosomal recessive 46",1,"graded_apart"],["d","MONDO:0014500","atrial conduction disease",1,"graded_apart"],["d","MONDO:0014501","macular degeneration, early-onset",1,"agreed"],["d","MONDO:0014502","Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",1,"disputed"],["d","MONDO:0014503","autosomal recessive spinocerebellar ataxia 17",1,"graded_apart"],["d","MONDO:0014504","Perrault syndrome 5",1,"agreed"],["d","MONDO:0014505","developmental and epileptic encephalopathy, 27",1,"agreed"],["d","MONDO:0014506","leukodystrophy, hypomyelinating, 9",1,"graded_apart"],["d","MONDO:0014507","Catel-Manzke syndrome",1,"agreed"],["d","MONDO:0014508","vitelliform macular dystrophy 4",1,"graded_apart"],["d","MONDO:0014509","vitelliform macular dystrophy 5",1,"disputed"],["d","MONDO:0014510","fatty acyl-CoA reductase 1 deficiency",1,"graded_apart"],["d","MONDO:0014511","Charcot-Marie-Tooth disease axonal type 2S",1,"agreed"],["d","MONDO:0014512","PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",1,"agreed"],["d","MONDO:0014513","nemaline myopathy 10",1,"agreed"],["d","MONDO:0014514","aortic aneurysm, familial thoracic 9",1,"disputed"],["d","MONDO:0014515","macular dystrophy with central cone involvement",1,"single"],["d","MONDO:0014516","microcephaly and chorioretinopathy 2",1,"agreed"],["d","MONDO:0014517","generalized epilepsy with febrile seizures plus, type 9",1,"agreed"],["d","MONDO:0014518","platelet-type bleeding disorder 19",2,"agreed"],["d","MONDO:0014520","46,XX ovarian dysgenesis-short stature syndrome",1,"graded_apart"],["d","MONDO:0014521","progressive myoclonic epilepsy type 7",1,"agreed"],["d","MONDO:0014522","retinal dystrophy and obesity",1,"disputed"],["d","MONDO:0014523","juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome",1,"graded_apart"],["d","MONDO:0014524","intellectual disability, autosomal recessive 47",1,"agreed"],["d","MONDO:0014525","combined oxidative phosphorylation defect type 23",1,"agreed"],["d","MONDO:0014526","polyglucosan body myopathy type 2",1,"agreed"],["d","MONDO:0014527","progeroid features-hepatocellular carcinoma predisposition syndrome",1,"disputed"],["d","MONDO:0014528","chronic atrial and intestinal dysrhythmia",1,"graded_apart"],["d","MONDO:0014529","cerebellar-facial-dental syndrome",1,"graded_apart"],["d","MONDO:0014530","autosomal recessive spinocerebellar ataxia 18",1,"agreed"],["d","MONDO:0014531","amyotrophic lateral sclerosis type 22",1,"disputed"],["d","MONDO:0014532","autosomal dominant mitochondrial myopathy with exercise intolerance",1,"disputed"],["d","MONDO:0014533","developmental and epileptic encephalopathy, 28",1,"graded_apart"],["d","MONDO:0014534","lissencephaly 6 with microcephaly",1,"graded_apart"],["d","MONDO:0014535","hyperproinsulinemia",1,"disputed"],["d","MONDO:0014536","thrombocytopenia 5",1,"agreed"],["d","MONDO:0014537","nephronophthisis 19",1,"agreed"],["d","MONDO:0014538","fibrosis of extraocular muscles, congenital, 5",1,"graded_apart"],["d","MONDO:0014539","focal segmental glomerulosclerosis 9",1,"agreed"],["d","MONDO:0014540","amelogenesis imperfecta type 1H",1,"agreed"],["d","MONDO:0014542","congenital myasthenic syndrome 15",1,"agreed"],["d","MONDO:0014543","congenital myasthenic syndrome 14",1,"graded_apart"],["d","MONDO:0014544","osteogenesis imperfecta type 16",1,"graded_apart"],["d","MONDO:0014545","progressive myoclonic epilepsy type 8",1,"disputed"],["d","MONDO:0014546","myopathy due to calsequestrin and SERCA1 protein overload",1,"single"],["d","MONDO:0014547","combined oxidative phosphorylation defect type 24",1,"graded_apart"],["d","MONDO:0014548","long QT syndrome 14",1,"agreed"],["d","MONDO:0014549","lethal congenital contracture syndrome 6",1,"graded_apart"],["d","MONDO:0014550","long QT syndrome 15",1,"agreed"],["d","MONDO:0014551","short stature with nonspecific skeletal abnormalities 1",2,"graded_apart"],["d","MONDO:0014552","lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",1,"graded_apart"],["d","MONDO:0014553","Tenorio syndrome",1,"disputed"],["d","MONDO:0014554","infantile multisystem neurologic-endocrine-pancreatic disease",1,"ungraded"],["d","MONDO:0014555","peeling skin syndrome type A",2,"single"],["d","MONDO:0014556","congenital contractures of the limbs and face, hypotonia, and developmental delay",1,"agreed"],["d","MONDO:0014557","ataxia - oculomotor apraxia type 4",1,"agreed"],["d","MONDO:0014558","autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",1,"agreed"],["d","MONDO:0014559","progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome",1,"disputed"],["d","MONDO:0014560","amelogenesis imperfecta type 1F",1,"disputed"],["d","MONDO:0014561","3-methylglutaconic aciduria, type VIIB",1,"agreed"],["d","MONDO:0014562","neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",1,"agreed"],["d","MONDO:0014563","mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency",1,"agreed"],["d","MONDO:0014564","congenital bile acid synthesis defect 5",1,"graded_apart"],["d","MONDO:0014565","cataract 43",1,"disputed"],["d","MONDO:0014566","Charcot-Marie-Tooth disease axonal type 2U",1,"disputed"],["d","MONDO:0014567","glutamate pyruvate transaminase 2 deficiency",1,"disputed"],["d","MONDO:0014568","hereditary spastic paraplegia 73",1,"disputed"],["d","MONDO:0014569","lethal congenital contracture syndrome 7",1,"agreed"],["d","MONDO:0014570","lethal congenital contracture syndrome 8",1,"graded_apart"],["d","MONDO:0014571","optic atrophy 9",1,"disputed"],["d","MONDO:0014572","Lichtenstein-Knorr syndrome",1,"disputed"],["d","MONDO:0014573","Cole-Carpenter syndrome 2",1,"graded_apart"],["d","MONDO:0014574","peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome",1,"disputed"],["d","MONDO:0014575","Singleton-Merten syndrome 2",1,"disputed"],["d","MONDO:0014576","lipoyl transferase 1 deficiency",2,"graded_apart"],["d","MONDO:0014577","short-rib thoracic dysplasia 13 with or without polydactyly",1,"single"],["d","MONDO:0014578","congenital myasthenic syndrome 17",1,"disputed"],["d","MONDO:0014579","Senior-Loken syndrome 8",1,"single"],["d","MONDO:0014580","intellectual disability, autosomal dominant 33",1,"agreed"],["d","MONDO:0014581","congenital myasthenic syndrome 2A",1,"graded_apart"],["d","MONDO:0014582","congenital myasthenic syndrome 2C",1,"graded_apart"],["d","MONDO:0014583","congenital myasthenic syndrome 3A",1,"agreed"],["d","MONDO:0014584","congenital myasthenic syndrome 3B",1,"single"],["d","MONDO:0014585","congenital myasthenic syndrome 3C",1,"agreed"],["d","MONDO:0014586","congenital myasthenic syndrome 4B",1,"agreed"],["d","MONDO:0014587","congenital myasthenic syndrome 9",1,"agreed"],["d","MONDO:0014588","congenital myasthenic syndrome 11",1,"agreed"],["d","MONDO:0014589","maturity-onset diabetes of the young type 13",1,"agreed"],["d","MONDO:0014590","congenital myasthenic syndrome 18",1,"disputed"],["d","MONDO:0014591","autosomal dominant Robinow syndrome 2",1,"agreed"],["d","MONDO:0014592","microcephaly and chorioretinopathy 3",1,"agreed"],["d","MONDO:0014593","developmental and epileptic encephalopathy, 29",1,"agreed"],["d","MONDO:0014594","autosomal dominant nonsyndromic hearing loss 67",1,"graded_apart"],["d","MONDO:0014595","developmental and epileptic encephalopathy, 30",1,"agreed"],["d","MONDO:0014596","lissencephaly 7 with cerebellar hypoplasia",1,"disputed"],["d","MONDO:0014597","immunodeficiency 39",1,"disputed"],["d","MONDO:0014598","developmental and epileptic encephalopathy, 31A",1,"graded_apart"],["d","MONDO:0014599","intellectual disability, autosomal dominant 34",1,"agreed"],["d","MONDO:0014600","dyskeratosis congenita, autosomal recessive 6",1,"graded_apart"],["d","MONDO:0014601","autosomal recessive spinocerebellar ataxia 20",1,"agreed"],["d","MONDO:0014602","Houge-Janssens syndrome 1",1,"agreed"],["d","MONDO:0014603","autosomal dominant nonsyndromic hearing loss 40",1,"single"],["d","MONDO:0014605","Houge-Janssens syndrome 2",1,"agreed"],["d","MONDO:0014606","intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",1,"agreed"],["d","MONDO:0014607","developmental and epileptic encephalopathy, 32",1,"agreed"],["d","MONDO:0014608","mandibulofacial dysostosis with alopecia",1,"graded_apart"],["d","MONDO:0014609","cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome",1,"agreed"],["d","MONDO:0014611","multiple mitochondrial dysfunctions syndrome 4",1,"graded_apart"],["d","MONDO:0014612","pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4",1,"graded_apart"],["d","MONDO:0014613","pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3",1,"agreed"],["d","MONDO:0014614","congenital stationary night blindness 1G",1,"disputed"],["d","MONDO:0014615","trichothiodystrophy 2, photosensitive",1,"disputed"],["d","MONDO:0014618","retinitis pigmentosa 71",1,"graded_apart"],["d","MONDO:0014619","trichothiodystrophy 3, photosensitive",1,"agreed"],["d","MONDO:0014620","myoclonic dystonia 26",1,"disputed"],["d","MONDO:0014621","Brugada syndrome 9",1,"single"],["d","MONDO:0014622","isolated focal non-epidermolytic palmoplantar keratoderma",2,"single"],["d","MONDO:0014623","microcephaly 14, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0014625","developmental and epileptic encephalopathy, 33",1,"graded_apart"],["d","MONDO:0014626","spinocerebellar ataxia type 41",1,"graded_apart"],["d","MONDO:0014627","dystonia 27",1,"disputed"],["d","MONDO:0014628","basal ganglia calcification, idiopathic, 6",1,"graded_apart"],["d","MONDO:0014629","autoimmune interstitial lung disease-arthritis syndrome",1,"single"],["d","MONDO:0014630","familial adenomatous polyposis 3",1,"agreed"],["d","MONDO:0014631","hypomagnesemia, seizures, and intellectual disability",1,"single"],["d","MONDO:0014632","leukodystrophy, hypomyelinating, 10",1,"agreed"],["d","MONDO:0014633","epilepsy with myoclonic atonic seizures",1,"agreed"],["d","MONDO:0014635","microphthalmia, isolated, with coloboma 10",1,"graded_apart"],["d","MONDO:0014636","combined oxidative phosphorylation defect type 25",1,"agreed"],["d","MONDO:0014637","DOCK2 deficiency",1,"agreed"],["d","MONDO:0014638","Fanconi anemia complementation group T",1,"agreed"],["d","MONDO:0014639","familial temporal lobe epilepsy 7",1,"graded_apart"],["d","MONDO:0014640","frontotemporal dementia and/or amyotrophic lateral sclerosis 3",1,"graded_apart"],["d","MONDO:0014641","frontotemporal dementia and/or amyotrophic lateral sclerosis 4",1,"agreed"],["d","MONDO:0014642","candidiasis, familial, 9",1,"disputed"],["d","MONDO:0014643","congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome",1,"graded_apart"],["d","MONDO:0014644","hereditary spastic paraplegia 74",1,"single"],["d","MONDO:0014645","BENTA disease",1,"agreed"],["d","MONDO:0014646","Zimmermann-Laband syndrome 2",1,"single"],["d","MONDO:0014647","developmental and epileptic encephalopathy, 50",1,"graded_apart"],["d","MONDO:0014648","Al-Raqad syndrome",1,"graded_apart"],["d","MONDO:0014649","intellectual disability, autosomal recessive 50",1,"agreed"],["d","MONDO:0014650","familial temporal lobe epilepsy 8",1,"single"],["d","MONDO:0014651","acrofacial dysostosis Cincinnati type",1,"graded_apart"],["d","MONDO:0014652","exudative vitreoretinopathy 6",1,"disputed"],["d","MONDO:0014653","retinitis pigmentosa 72",1,"graded_apart"],["d","MONDO:0014654","Ullrich congenital muscular dystrophy 2",1,"agreed"],["d","MONDO:0014655","Bethlem myopathy 2",1,"disputed"],["d","MONDO:0014656","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",1,"agreed"],["d","MONDO:0014657","primary ciliary dyskinesia 32",1,"graded_apart"],["d","MONDO:0014658","severe achondroplasia-developmental delay-acanthosis nigricans syndrome",1,"graded_apart"],["d","MONDO:0014659","infantile liver failure syndrome 2",2,"single"],["d","MONDO:0014660","microcephaly 15, primary, autosomal recessive",1,"agreed"],["d","MONDO:0014662","congenital insensitivity to pain-hypohidrosis syndrome",1,"agreed"],["d","MONDO:0014663","Silver-Russell syndrome 3",1,"agreed"],["d","MONDO:0014664","Joubert syndrome 23",1,"agreed"],["d","MONDO:0014665","Charcot-Marie-Tooth disease axonal type 2V",1,"disputed"],["d","MONDO:0014666","leukodystrophy, hypomyelinating, 11",1,"agreed"],["d","MONDO:0014667","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",1,"agreed"],["d","MONDO:0014668","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",1,"single"],["d","MONDO:0014669","cone-rod dystrophy 21",1,"agreed"],["d","MONDO:0014670","lethal congenital contracture syndrome 9",1,"graded_apart"],["d","MONDO:0014671","neuropathy, hereditary motor and sensory, type 6B",1,"graded_apart"],["d","MONDO:0014672","osteogenesis imperfecta type 17",1,"disputed"],["d","MONDO:0014673","cataract 44",1,"disputed"],["d","MONDO:0014674","maturity-onset diabetes of the young type 14",1,"disputed"],["d","MONDO:0014675","autosomal recessive nonsyndromic hearing loss 104",1,"graded_apart"],["d","MONDO:0014676","Emery-Dreifuss muscular dystrophy 3, autosomal recessive",1,"single"],["d","MONDO:0014677","achromatopsia 7",1,"agreed"],["d","MONDO:0014678","intellectual disability, autosomal dominant 39",1,"agreed"],["d","MONDO:0014679","polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis",1,"agreed"],["d","MONDO:0014680","herpes simplex encephalitis, susceptibility to, 7",1,"single"],["d","MONDO:0014683","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9",1,"agreed"],["d","MONDO:0014684","combined oxidative phosphorylation defect type 26",1,"graded_apart"],["d","MONDO:0014685","progressive myoclonic epilepsy type 9",1,"disputed"],["d","MONDO:0014686","short stature, microcephaly, and endocrine dysfunction",1,"agreed"],["d","MONDO:0014687","retinitis pigmentosa 73",1,"disputed"],["d","MONDO:0014688","short-rib thoracic dysplasia 14 with polydactyly",1,"graded_apart"],["d","MONDO:0014689","Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",1,"graded_apart"],["d","MONDO:0014690","dyskeratosis congenita, autosomal dominant 6",1,"graded_apart"],["d","MONDO:0014691","Noonan syndrome 9",1,"agreed"],["d","MONDO:0014692","retinitis pigmentosa 74",1,"agreed"],["d","MONDO:0014693","Noonan syndrome 10",1,"agreed"],["d","MONDO:0014694","spondylocostal dysostosis 6, autosomal recessive",1,"disputed"],["d","MONDO:0014695","glioma susceptibility 9",1,"single"],["d","MONDO:0014696","cerebrooculofacioskeletal syndrome 3",1,"disputed"],["d","MONDO:0014697","immunodeficiency, common variable, 12",1,"agreed"],["d","MONDO:0014698","microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome",1,"agreed"],["d","MONDO:0014699","intellectual disability, autosomal dominant 40",2,"agreed"],["d","MONDO:0014700","Au-Kline syndrome",1,"graded_apart"],["d","MONDO:0014701","spondyloepiphyseal dysplasia, Stanescu type",1,"ungraded"],["d","MONDO:0014702","autosomal recessive complex spastic paraplegia type 9B",1,"disputed"],["d","MONDO:0014703","Adams-Oliver syndrome 6",1,"agreed"],["d","MONDO:0014704","skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome",1,"graded_apart"],["d","MONDO:0014705","craniosynostosis 6",1,"graded_apart"],["d","MONDO:0014706","cutis laxa, autosomal dominant 3",1,"graded_apart"],["d","MONDO:0014709","Heimler syndrome 2",1,"single"],["d","MONDO:0014710","autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency",1,"graded_apart"],["d","MONDO:0014711","autosomal dominant Charcot-Marie-Tooth disease type 2W",1,"agreed"],["d","MONDO:0014712","Senior-Loken syndrome 9",1,"agreed"],["d","MONDO:0014713","porokeratosis 9, multiple types",1,"graded_apart"],["d","MONDO:0014714","progressive microcephaly-seizures-cortical blindness-developmental delay syndrome",1,"agreed"],["d","MONDO:0014715","primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",1,"disputed"],["d","MONDO:0014716","macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome",1,"agreed"],["d","MONDO:0014717","early-onset Lafora body disease",1,"disputed"],["d","MONDO:0014718","developmental and epileptic encephalopathy, 34",1,"disputed"],["d","MONDO:0014719","developmental and epileptic encephalopathy, 35",1,"agreed"],["d","MONDO:0014720","autosomal dominant optic atrophy plus syndrome",1,"ungraded"],["d","MONDO:0014722","Roifman syndrome",1,"graded_apart"],["d","MONDO:0014724","Joubert syndrome 24",1,"graded_apart"],["d","MONDO:0014725","spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",1,"agreed"],["d","MONDO:0014726","Charcot-Marie-Tooth disease axonal type 2X",1,"agreed"],["d","MONDO:0014727","immunodeficiency 45",1,"disputed"],["d","MONDO:0014728","combined oxidative phosphorylation defect type 27",1,"graded_apart"],["d","MONDO:0014729","hereditary spastic paraplegia 75",1,"single"],["d","MONDO:0014730","microcephaly 16, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0014731","seizures-scoliosis-macrocephaly syndrome",1,"disputed"],["d","MONDO:0014732","leukodystrophy, hypomyelinating, 12",1,"agreed"],["d","MONDO:0014733","Charcot-Marie-Tooth disease type 4K",1,"agreed"],["d","MONDO:0014734","epilepsy, idiopathic generalized, susceptibility to, 14",1,"agreed"],["d","MONDO:0014735","Charcot-Marie-Tooth disease type 2Y",1,"single"],["d","MONDO:0014736","Charcot-Marie-Tooth disease axonal type 2Z",1,"agreed"],["d","MONDO:0014737","dehydrated hereditary stomatocytosis 2",1,"graded_apart"],["d","MONDO:0014738","autosomal dominant nonsyndromic hearing loss 69",1,"single"],["d","MONDO:0014739","autosomal recessive nonsyndromic hearing loss 97",1,"disputed"],["d","MONDO:0014740","autosomal dominant nonsyndromic hearing loss 68",1,"graded_apart"],["d","MONDO:0014741","DeSanto-Shinawi syndrome due to WAC point mutation",1,"agreed"],["d","MONDO:0014742","Parkinson disease 22, autosomal dominant",1,"agreed"],["d","MONDO:0014743","rhizomelic chondrodysplasia punctata type 5",1,"disputed"],["d","MONDO:0014744","acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",1,"graded_apart"],["d","MONDO:0014745","congenital myasthenic syndrome 19",1,"agreed"],["d","MONDO:0014746","SLC39A8-CDG",1,"agreed"],["d","MONDO:0014747","familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome",1,"disputed"],["d","MONDO:0014748","progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome",1,"graded_apart"],["d","MONDO:0014749","tooth agenesis, selective, 7",1,"disputed"],["d","MONDO:0014750","primary ciliary dyskinesia 33",1,"graded_apart"],["d","MONDO:0014751","palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome",1,"graded_apart"],["d","MONDO:0014752","nephrotic syndrome, type 11",1,"graded_apart"],["d","MONDO:0014753","autosomal recessive optic atrophy",4,"ungraded"],["d","MONDO:0014754","primary coenzyme Q10 deficiency 8",2,"graded_apart"],["d","MONDO:0014755","skin creases, congenital symmetric circumferential, 2",1,"disputed"],["d","MONDO:0014756","tremor, hereditary essential, 5",1,"disputed"],["d","MONDO:0014757","Takenouchi-Kosaki syndrome",1,"agreed"],["d","MONDO:0014758","radioulnar synostosis with amegakaryocytic thrombocytopenia 2",1,"agreed"],["d","MONDO:0014759","intellectual disability, autosomal recessive 51",1,"disputed"],["d","MONDO:0014760","TFRC-related combined immunodeficiency",1,"disputed"],["d","MONDO:0014761","hereditary pediatric Behçet-like disease",1,"single"],["d","MONDO:0014762","heterotaxy, visceral, 7, autosomal",1,"agreed"],["d","MONDO:0014763","Bombay phenotype",1,"single"],["d","MONDO:0014764","spastic paraplegia-severe developmental delay-epilepsy syndrome",1,"agreed"],["d","MONDO:0014765","wooly hair, autosomal recessive 3",1,"graded_apart"],["d","MONDO:0014766","leukodystrophy and acquired microcephaly with or without dystonia;",1,"disputed"],["d","MONDO:0014767","Seckel syndrome 9",1,"agreed"],["d","MONDO:0014768","cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2",1,"agreed"],["d","MONDO:0014769","inherited oocyte maturation defect",2,"single"],["d","MONDO:0014770","Joubert syndrome 25",1,"graded_apart"],["d","MONDO:0014771","Joubert syndrome 26",1,"agreed"],["d","MONDO:0014772","orofacial cleft 15",1,"agreed"],["d","MONDO:0014773","cardiac anomalies - developmental delay - facial dysmorphism syndrome",1,"agreed"],["d","MONDO:0014775","combined oxidative phosphorylation deficiency 28",1,"agreed"],["d","MONDO:0014776","spinocerebellar ataxia type 42",1,"agreed"],["d","MONDO:0014777","hypotonia, infantile, with psychomotor retardation and characteristic facies 2",1,"agreed"],["d","MONDO:0014778","Lamb-Shaffer syndrome",1,"agreed"],["d","MONDO:0014779","Wilms tumor 6",1,"disputed"],["d","MONDO:0014780","hyperphosphatasia with intellectual disability syndrome 6",1,"disputed"],["d","MONDO:0014781","combined oxidative phosphorylation deficiency 29",1,"graded_apart"],["d","MONDO:0014782","autosomal recessive limb-girdle muscular dystrophy type 2X",1,"graded_apart"],["d","MONDO:0014783","preimplantation embryonic lethality 1",1,"disputed"],["d","MONDO:0014784","severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome",1,"agreed"],["d","MONDO:0014785","microcephaly, short stature, and impaired glucose metabolism 2",1,"disputed"],["d","MONDO:0014786","IgA nephropathy, susceptibility to, 3",1,"agreed"],["d","MONDO:0014787","severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome",1,"disputed"],["d","MONDO:0014788","autosomal recessive limb-girdle muscular dystrophy type 2W",1,"agreed"],["d","MONDO:0014789","CCDC115-CDG",1,"graded_apart"],["d","MONDO:0014790","TMEM199-CDG",1,"graded_apart"],["d","MONDO:0014791","Luscan-Lumish syndrome",1,"agreed"],["d","MONDO:0014792","Paget disease of bone 6",1,"disputed"],["d","MONDO:0014793","microcephaly-congenital cataract-psoriasiform dermatitis syndrome",1,"disputed"],["d","MONDO:0014794","Meier-Gorlin syndrome 6",1,"graded_apart"],["d","MONDO:0014795","exercise intolerance, riboflavin-responsive",1,"disputed"],["d","MONDO:0014796","autosomal recessive early-onset Parkinson disease 23",1,"graded_apart"],["d","MONDO:0014797","lymphatic malformation 6",1,"agreed"],["d","MONDO:0014798","brachydactyly type A1D",1,"graded_apart"],["d","MONDO:0014799","cataract 45",1,"graded_apart"],["d","MONDO:0014800","progressive scapulohumeroperoneal distal myopathy",1,"ungraded"],["d","MONDO:0014801","even-plus syndrome",1,"graded_apart"],["d","MONDO:0014802","Cowden syndrome 7",1,"agreed"],["d","MONDO:0014803","spasticity-ataxia-gait anomalies syndrome",1,"agreed"],["d","MONDO:0014804","sideroblastic anemia 3",1,"agreed"],["d","MONDO:0014805","Hao-Fountain syndrome",1,"agreed"],["d","MONDO:0014806","spinal muscular atrophy with congenital bone fractures 1",1,"agreed"],["d","MONDO:0014807","spinal muscular atrophy with congenital bone fractures 2",1,"agreed"],["d","MONDO:0014808","congenital secretory sodium diarrhea 8",1,"graded_apart"],["d","MONDO:0014809","DDX41-related hematologic malignancy predisposition syndrome",1,"agreed"],["d","MONDO:0014810","pancytopenia due to IKZF1 mutations",1,"agreed"],["d","MONDO:0014811","cerebellar atrophy, visual impairment, and psychomotor retardation;",1,"graded_apart"],["d","MONDO:0014812","metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration",1,"single"],["d","MONDO:0014813","leukodystrophy, hypomyelinating, 13",1,"agreed"],["d","MONDO:0014815","intellectual disability, autosomal recessive 52",1,"graded_apart"],["d","MONDO:0014816","split-foot malformation-mesoaxial polydactyly syndrome",1,"graded_apart"],["d","MONDO:0014817","nephrotic syndrome, type 12",1,"graded_apart"],["d","MONDO:0014818","nephrotic syndrome, type 13",1,"disputed"],["d","MONDO:0014819","autosomal dominant Robinow syndrome 3",1,"agreed"],["d","MONDO:0014820","mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)",1,"disputed"],["d","MONDO:0014821","complex lethal osteochondrodysplasia",1,"graded_apart"],["d","MONDO:0014823","hypotonia, infantile, with psychomotor retardation and characteristic facies 3",1,"agreed"],["d","MONDO:0014824","craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome",1,"single"],["d","MONDO:0014827","autosomal recessive spastic paraplegia type 76",1,"agreed"],["d","MONDO:0014828","immunodeficiency-centromeric instability-facial anomalies syndrome 3",1,"graded_apart"],["d","MONDO:0014829","immunodeficiency-centromeric instability-facial anomalies syndrome 4",1,"graded_apart"],["d","MONDO:0014830","platelet-type bleeding disorder 20",1,"graded_apart"],["d","MONDO:0014831","progeroid and marfanoid aspect-lipodystrophy syndrome",1,"graded_apart"],["d","MONDO:0014832","intellectual disability, autosomal recessive 53",1,"agreed"],["d","MONDO:0014833","heart and brain malformation syndrome",1,"agreed"],["d","MONDO:0014834","dyskinesia, limb and orofacial, infantile-onset",1,"graded_apart"],["d","MONDO:0014835","striatal degeneration, autosomal dominant 2",1,"graded_apart"],["d","MONDO:0014836","Charcot-Marie-Tooth disease axonal type 2CC",1,"agreed"],["d","MONDO:0014837","thrombocytopenia 6",1,"disputed"],["d","MONDO:0014838","Coffin-Siris syndrome 5",1,"graded_apart"],["d","MONDO:0014839","chorea, childhood-onset, with psychomotor retardation",1,"agreed"],["d","MONDO:0014840","agammaglobulinemia 8, autosomal dominant",1,"graded_apart"],["d","MONDO:0014841","trichothiodystrophy 6, nonphotosensitive",1,"graded_apart"],["d","MONDO:0014842","intellectual disability, autosomal dominant 41",1,"graded_apart"],["d","MONDO:0014843","premature ovarian failure 11",1,"single"],["d","MONDO:0014844","premature ovarian failure 12",1,"agreed"],["d","MONDO:0014845","spinocerebellar ataxia, autosomal recessive 22",1,"agreed"],["d","MONDO:0014846","spinocerebellar ataxia, autosomal recessive 23",1,"graded_apart"],["d","MONDO:0014847","spermatogenic failure 15",1,"agreed"],["d","MONDO:0014848","TELO2-related intellectual disability-neurodevelopmental disorder",1,"agreed"],["d","MONDO:0014849","autosomal recessive nonsyndromic deafness 105",1,"single"],["d","MONDO:0014850","retinitis pigmentosa and erythrocytic microcytosis",1,"agreed"],["d","MONDO:0014851","hypercalcemia, infantile, 2",1,"graded_apart"],["d","MONDO:0014853","autosomal dominant nonsyndromic hearing loss 70",1,"disputed"],["d","MONDO:0014854","autosomal dominant nonsyndromic hearing loss 66",1,"single"],["d","MONDO:0014855","intellectual disability, autosomal dominant 42",1,"agreed"],["d","MONDO:0014856","combined oxidative phosphorylation defect type 30",1,"disputed"],["d","MONDO:0014857","neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",1,"agreed"],["d","MONDO:0014858","intellectual disability, autosomal dominant 43",1,"agreed"],["d","MONDO:0014859","developmental and epileptic encephalopathy, 37",1,"graded_apart"],["d","MONDO:0014860","polycystic liver disease 2",1,"agreed"],["d","MONDO:0014861","autoimmune disease, multisystem, infantile-onset, 2",1,"single"],["d","MONDO:0014862","cerebral palsy, spastic quadriplegic, 3",1,"disputed"],["d","MONDO:0014863","macrocephaly, dysmorphic facies, and psychomotor retardation",1,"graded_apart"],["d","MONDO:0014864","hypermanganesemia with dystonia 2",1,"agreed"],["d","MONDO:0014865","autosomal recessive severe congenital neutropenia due to CSF3R deficiency",2,"agreed"],["d","MONDO:0014866","Charcot-Marie-Tooth disease axonal type 2T",2,"agreed"],["d","MONDO:0014867","spinocerebellar ataxia 43",1,"agreed"],["d","MONDO:0014868","developmental and epileptic encephalopathy, 38",1,"agreed"],["d","MONDO:0014869","hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome",1,"disputed"],["d","MONDO:0014870","NEK9-related lethal skeletal dysplasia",1,"graded_apart"],["d","MONDO:0014871","retinitis pigmentosa 75",1,"agreed"],["d","MONDO:0014872","congenital stationary night blindness 1H",1,"disputed"],["d","MONDO:0014874","pontocerebellar hypoplasia, type 2F",1,"graded_apart"],["d","MONDO:0014875","hyperaldosteronism, familial, type IV",1,"single"],["d","MONDO:0014876","intellectual disability, autosomal recessive 54",1,"graded_apart"],["d","MONDO:0014877","myopathy, distal, 5",1,"agreed"],["d","MONDO:0014878","patent ductus arteriosus 2",1,"single"],["d","MONDO:0014880","Duane retraction syndrome 3 with or without deafness",1,"graded_apart"],["d","MONDO:0014881","transketolase deficiency",1,"graded_apart"],["d","MONDO:0014882","hereditary spastic paraplegia 77",1,"disputed"],["d","MONDO:0014883","hypertrophic cardiomyopathy 26",1,"graded_apart"],["d","MONDO:0014884","cholestasis, progressive familial intrahepatic, 5",1,"agreed"],["d","MONDO:0014885","Hermansky-Pudlak syndrome 10",1,"disputed"],["d","MONDO:0014886","severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome",1,"graded_apart"],["d","MONDO:0014887","bone marrow failure syndrome 3",1,"graded_apart"],["d","MONDO:0014888","MIRAGE syndrome",1,"graded_apart"],["d","MONDO:0014889","striatonigral degeneration, childhood-onset",1,"graded_apart"],["d","MONDO:0014890","PERCHING syndrome",1,"graded_apart"],["d","MONDO:0014891","hyperuricemic nephropathy, familial juvenile type 4",1,"disputed"],["d","MONDO:0014892","micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome",1,"agreed"],["d","MONDO:0014893","Okur-Chung neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0014894","Meier-Gorlin syndrome 7",1,"agreed"],["d","MONDO:0014895","developmental and epileptic encephalopathy, 40",1,"agreed"],["d","MONDO:0014896","congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome",1,"single"],["d","MONDO:0014897","portal hypertension, noncirrhotic",1,"single"],["d","MONDO:0014899","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",1,"ungraded"],["d","MONDO:0014900","autosomal recessive limb-girdle muscular dystrophy type 2Y",1,"graded_apart"],["d","MONDO:0014901","tooth agenesis, selective, 8",1,"disputed"],["d","MONDO:0014902","nasopharyngeal carcinoma, susceptibility to, 3",1,"single"],["d","MONDO:0014903","seizures, benign familial infantile, 5",1,"single"],["d","MONDO:0014904","congenital disorder of glycosylation, type Iaa",1,"disputed"],["d","MONDO:0014905","encephalopathy due to defective mitochondrial and peroxisomal fission 2",1,"agreed"],["d","MONDO:0014906","Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;",1,"agreed"],["d","MONDO:0014907","short-rib thoracic dysplasia 15 with polydactyly",1,"agreed"],["d","MONDO:0014908","microcephaly 17, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0014909","primary ciliary dyskinesia 34",1,"disputed"],["d","MONDO:0014910","primary ciliary dyskinesia 35",1,"agreed"],["d","MONDO:0014911","growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy",1,"agreed"],["d","MONDO:0014912","autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive",1,"graded_apart"],["d","MONDO:0014914","Dias-Logan syndrome",1,"graded_apart"],["d","MONDO:0014915","short-rib thoracic dysplasia 16 with or without polydactyly",1,"disputed"],["d","MONDO:0014916","developmental and epileptic encephalopathy, 41",1,"graded_apart"],["d","MONDO:0014917","developmental and epileptic encephalopathy, 42",1,"graded_apart"],["d","MONDO:0014918","tall stature-intellectual disability-renal anomalies syndrome",1,"graded_apart"],["d","MONDO:0014919","sessile serrated polyposis cancer syndrome",1,"disputed"],["d","MONDO:0014920","patterned macular dystrophy 3",1,"disputed"],["d","MONDO:0014921","developmental and epileptic encephalopathy, 43",1,"agreed"],["d","MONDO:0014922","myofibrillar myopathy 7",1,"graded_apart"],["d","MONDO:0014923","peeling skin syndrome 5",1,"disputed"],["d","MONDO:0014924","epilepsy, familial focal, with variable foci 2",1,"graded_apart"],["d","MONDO:0014925","epilepsy, familial focal, with variable foci 3",1,"graded_apart"],["d","MONDO:0014926","Bardet-Biedl syndrome 22",1,"disputed"],["d","MONDO:0014927","Joubert syndrome 27",1,"single"],["d","MONDO:0014928","Joubert syndrome 28",1,"single"],["d","MONDO:0014929","retinitis pigmentosa 76",1,"disputed"],["d","MONDO:0014930","intellectual disability, autosomal recessive 56",1,"graded_apart"],["d","MONDO:0014931","Alazami-Yuan syndrome",1,"disputed"],["d","MONDO:0014932","orofaciodigital syndrome XV",1,"agreed"],["d","MONDO:0014933","developmental and epileptic encephalopathy, 44",1,"agreed"],["d","MONDO:0014934","spinocerebellar ataxia, autosomal recessive 24",1,"graded_apart"],["d","MONDO:0014935","frontometaphyseal dysplasia 2",1,"agreed"],["d","MONDO:0014936","ZTTK syndrome",1,"agreed"],["d","MONDO:0014937","aniridia 2",1,"disputed"],["d","MONDO:0014938","aniridia 3",1,"agreed"],["d","MONDO:0014939","congenital myasthenic syndrome 20",1,"agreed"],["d","MONDO:0014940","neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",1,"agreed"],["d","MONDO:0014941","arthrogryposis, distal, with impaired proprioception and touch",1,"graded_apart"],["d","MONDO:0014942","developmental and epileptic encephalopathy, 45",1,"graded_apart"],["d","MONDO:0014943","mitochondrial DNA depletion syndrome 15 (hepatocerebral type)",1,"disputed"],["d","MONDO:0014944","short stature-brachydactyly-obesity-global developmental delay syndrome",1,"agreed"],["d","MONDO:0014946","Sifrim-Hitz-Weiss syndrome",1,"agreed"],["d","MONDO:0014947","developmental and epileptic encephalopathy, 46",1,"agreed"],["d","MONDO:0014948","short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay",1,"agreed"],["d","MONDO:0014949","developmental and epileptic encephalopathy, 47",1,"graded_apart"],["d","MONDO:0014950","aortic aneurysm, familial thoracic 10",1,"graded_apart"],["d","MONDO:0014951","intellectual developmental disorder, autosomal recessive 74",1,"single"],["d","MONDO:0014952","intellectual disability-epilepsy-extrapyramidal syndrome",1,"graded_apart"],["d","MONDO:0014953","gnb5-related intellectual disability-cardiac arrhythmia syndrome",1,"agreed"],["d","MONDO:0014954","Ehlers-Danlos syndrome, periodontal type 2",1,"disputed"],["d","MONDO:0014955","RCBTB1-related retinopathy",1,"disputed"],["d","MONDO:0014956","Chitayat syndrome",1,"graded_apart"],["d","MONDO:0014957","language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia",1,"single"],["d","MONDO:0014958","Harel-Yoon syndrome",1,"agreed"],["d","MONDO:0014959","mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant",1,"graded_apart"],["d","MONDO:0014961","spermatogenic failure 16",1,"single"],["d","MONDO:0014962","intellectual disability, autosomal recessive 57",1,"graded_apart"],["d","MONDO:0014963","Shashi-Pena syndrome",1,"graded_apart"],["d","MONDO:0014965","lethal congenital contracture syndrome 11",1,"agreed"],["d","MONDO:0014966","periventricular nodular heterotopia 7",1,"agreed"],["d","MONDO:0014967","heterotaxy, visceral, 8, autosomal",1,"agreed"],["d","MONDO:0014968","encephalopathy, progressive, with amyotrophy and optic atrophy",1,"disputed"],["d","MONDO:0014969","isolated sedoheptulokinase deficiency",1,"graded_apart"],["d","MONDO:0014970","spermatogenic failure 17",1,"single"],["d","MONDO:0014971","amelogenesis imperfecta, hypomaturation type, IIa6",1,"disputed"],["d","MONDO:0014973","sudden cardiac failure, infantile",1,"agreed"],["d","MONDO:0014974","sudden cardiac failure, alcohol-induced",1,"single"],["d","MONDO:0014975","autosomal recessive spastic paraplegia type 78",1,"agreed"],["d","MONDO:0014976","lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome",1,"agreed"],["d","MONDO:0014977","autosomal recessive limb-girdle muscular dystrophy type 2R1",1,"graded_apart"],["d","MONDO:0014978","preimplantation embryonic lethality 2",1,"agreed"],["d","MONDO:0014979","myoclonus, intractable, neonatal",1,"disputed"],["d","MONDO:0014980","cone-rod dystrophy and hearing loss",1,"agreed"],["d","MONDO:0014981","immunodeficiency 49",1,"disputed"],["d","MONDO:0014982","myopia 25, autosomal dominant",1,"agreed"],["d","MONDO:0014983","congenital myasthenic syndrome 21",1,"disputed"],["d","MONDO:0014984","lung disease, immunodeficiency, and chromosome breakage syndrome;",1,"graded_apart"],["d","MONDO:0014985","Fanconi anemia complementation group V",1,"agreed"],["d","MONDO:0014986","Fanconi anemia complementation group R",1,"graded_apart"],["d","MONDO:0014987","Fanconi anemia complementation group U",1,"graded_apart"],["d","MONDO:0014989","uncombable hair syndrome 2",1,"graded_apart"],["d","MONDO:0014990","uncombable hair syndrome 3",1,"agreed"],["d","MONDO:0014991","Seckel syndrome 10",1,"graded_apart"],["d","MONDO:0014992","lissencephaly 8",1,"agreed"],["d","MONDO:0014993","myofibrillar myopathy 8",1,"graded_apart"],["d","MONDO:0014994","global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies",1,"agreed"],["d","MONDO:0014995","neurodevelopmental disorder with hypotonia, seizures, and absent language",1,"agreed"],["d","MONDO:0014996","intellectual developmental disorder, autosomal recessive 58",1,"graded_apart"],["d","MONDO:0014997","nephronophthisis 20",1,"agreed"],["d","MONDO:0014998","glaucoma 3, primary congenital, E",1,"agreed"],["d","MONDO:0014999","tooth agenesis, selective, 9",1,"single"],["d","MONDO:0015000","developmental and epileptic encephalopathy, 48",1,"agreed"],["d","MONDO:0015001","atrial fibrillation, familial, 18",1,"single"],["d","MONDO:0015002","developmental and epileptic encephalopathy, 49",1,"agreed"],["d","MONDO:0015003","dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",1,"agreed"],["d","MONDO:0015004","dystonia 28, childhood-onset",1,"agreed"],["d","MONDO:0015005","epilepsy, early-onset, vitamin B6-dependent",1,"agreed"],["d","MONDO:0015006","epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",1,"graded_apart"],["d","MONDO:0015007","spastic paraplegia, intellectual disability, nystagmus, and obesity",1,"agreed"],["d","MONDO:0015008","amelogenesis imperfecta, type 1J",1,"single"],["d","MONDO:0015009","lymphatic malformation 7",1,"disputed"],["d","MONDO:0015010","atypical glycine encephalopathy",4,"agreed"],["d","MONDO:0015011","optic atrophy 11",1,"graded_apart"],["d","MONDO:0015012","mucopolysaccharidosis-plus syndrome",1,"disputed"],["d","MONDO:0015013","retinitis pigmentosa 77",1,"agreed"],["d","MONDO:0015014","coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness",1,"agreed"],["d","MONDO:0015015","congenital bile acid synthesis defect 6",1,"disputed"],["d","MONDO:0015017","anterior segment dysgenesis 8",1,"graded_apart"],["d","MONDO:0015020","intellectual disability, autosomal recessive 59",1,"graded_apart"],["d","MONDO:0015021","hypotonia, ataxia, and delayed development syndrome",1,"agreed"],["d","MONDO:0015022","intellectual developmental disorder with dysmorphic facies and ptosis",1,"agreed"],["d","MONDO:0015023","MYPN-related myopathy",1,"agreed"],["d","MONDO:0015024","ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",1,"graded_apart"],["d","MONDO:0015025","developmental and epileptic encephalopathy, 51",1,"graded_apart"],["d","MONDO:0015026","cerebroretinal microangiopathy with calcifications and cysts 2",1,"graded_apart"],["d","MONDO:0015027","familial isolated hyperparathyroidism",3,"ungraded"],["d","MONDO:0015033","ABeta amyloidosis, dutch type",1,"ungraded"],["d","MONDO:0015047","amelogenesis imperfecta type 1",5,"single"],["d","MONDO:0015048","amelogenesis imperfecta type 2",7,"ungraded"],["d","MONDO:0015053","hereditary angioedema type 1",1,"ungraded"],["d","MONDO:0015054","hereditary angioedema type 2",1,"ungraded"],["d","MONDO:0015075","thyroid gland carcinoma",1,"single"],["d","MONDO:0015085","bathing suit ichthyosis",1,"ungraded"],["d","MONDO:0015096","familial hypofibrinogenemia",3,"ungraded"],["d","MONDO:0015131","combined immunodeficiency",8,"agreed"],["d","MONDO:0015140","early-onset autosomal dominant Alzheimer disease",4,"ungraded"],["d","MONDO:0015150","complex hereditary spastic paraplegia",7,"agreed"],["d","MONDO:0015151","muscular dystrophy, limb-girdle, autosomal dominant",4,"single"],["d","MONDO:0015152","autosomal recessive limb-girdle muscular dystrophy",16,"graded_apart"],["d","MONDO:0015159","multiple congenital anomalies/dysmorphic syndrome-intellectual disability",3,"single"],["d","MONDO:0015168","arthrogryposis multiplex congenita",4,"single"],["d","MONDO:0015170","congenital sodium diarrhea",2,"ungraded"],["d","MONDO:0015177","metaphyseal anadysplasia",2,"ungraded"],["d","MONDO:0015185","intestinal polyposis syndrome",1,"single"],["d","MONDO:0015193","hydrops 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2",1,"ungraded"],["d","MONDO:0017176","Machado-Joseph disease type 3",1,"ungraded"],["d","MONDO:0017178","osteochondritis dissecans",1,"single"],["d","MONDO:0017182","familial hyperinsulinism",1,"single"],["d","MONDO:0017183","hyperinsulinism due to UCP2 deficiency",1,"single"],["d","MONDO:0017184","autosomal dominant hyperinsulinism due to SUR1 deficiency",1,"ungraded"],["d","MONDO:0017185","autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1,"ungraded"],["d","MONDO:0017187","diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",1,"ungraded"],["d","MONDO:0017188","diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency",1,"ungraded"],["d","MONDO:0017191","sporadic pheochromocytoma",1,"single"],["d","MONDO:0017193","symptomatic form of Coffin-Lowry syndrome in female carriers",1,"ungraded"],["d","MONDO:0017195","Bruck syndrome",2,"ungraded"],["d","MONDO:0017198","osteopetrosis",2,"single"],["d","MONDO:0017221","Pelizaeus-Merzbacher disease, connatal form",1,"ungraded"],["d","MONDO:0017222","Pelizaeus-Merzbacher disease, classic form",1,"ungraded"],["d","MONDO:0017223","Pelizaeus-Merzbacher disease, transitional form",1,"ungraded"],["d","MONDO:0017224","Pelizaeus-Merzbacher disease in female carriers",1,"ungraded"],["d","MONDO:0017225","null syndrome",1,"ungraded"],["d","MONDO:0017230","autosomal semi-dominant severe lipodystrophic laminopathy",1,"ungraded"],["d","MONDO:0017232","recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome",1,"ungraded"],["d","MONDO:0017233","familial Alzheimer-like prion disease",1,"ungraded"],["d","MONDO:0017237","hereditary sensorimotor neuropathy with hyperelastic skin",1,"ungraded"],["d","MONDO:0017238","hemoglobinopathy Toms River",1,"ungraded"],["d","MONDO:0017239","familial progressive hyper- and hypopigmentation",1,"ungraded"],["d","MONDO:0017240","acrodysostosis with multiple hormone resistance",1,"single"],["d","MONDO:0017241","AP4-related intellectual disability and spastic paraplegia",4,"ungraded"],["d","MONDO:0017265","autosomal recessive congenital ichthyosis",1,"single"],["d","MONDO:0017267","self-healing collodion baby",3,"ungraded"],["d","MONDO:0017268","acral self-healing collodion baby",1,"ungraded"],["d","MONDO:0017279","young-onset Parkinson disease",7,"ungraded"],["d","MONDO:0017288","DICER1 syndrome",1,"ungraded"],["d","MONDO:0017304","ocular albinism",1,"single"],["d","MONDO:0017309","neonatal Marfan syndrome",1,"ungraded"],["d","MONDO:0017312","Perrault syndrome",4,"single"],["d","MONDO:0017314","Ehlers-Danlos syndrome, vascular type",1,"single"],["d","MONDO:0017319","hereditary elliptocytosis",4,"ungraded"],["d","MONDO:0017320","phosphoenolpyruvate carboxykinase deficiency",2,"ungraded"],["d","MONDO:0017324","autosomal recessive hypophosphatemic rickets",2,"ungraded"],["d","MONDO:0017325","early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",1,"single"],["d","MONDO:0017329","familial vesicoureteral reflux",3,"ungraded"],["d","MONDO:0017337","inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency",1,"ungraded"],["d","MONDO:0017339","exfoliative ichthyosis",2,"ungraded"],["d","MONDO:0017351","inborn disorder of lysine and hydroxylysine metabolism",1,"agreed"],["d","MONDO:0017353","neonatal glycine encephalopathy",3,"ungraded"],["d","MONDO:0017354","infantile glycine encephalopathy",4,"ungraded"],["d","MONDO:0017360","vitamin B12-unresponsive methylmalonic acidemia type mut0",1,"ungraded"],["d","MONDO:0017362","neuralgic amyotrophy",1,"single"],["d","MONDO:0017366","hereditary pheochromocytoma-paraganglioma",16,"single"],["d","MONDO:0017380","juvenile polyposis syndrome",3,"agreed"],["d","MONDO:0017383","familial clubfoot due to PITX1 point mutation",1,"single"],["d","MONDO:0017385","malignant migrating partial seizures of infancy",9,"single"],["d","MONDO:0017389","tetrahydrobiopterin-responsive phenylketonuria",1,"ungraded"],["d","MONDO:0017398","3MC syndrome",3,"ungraded"],["d","MONDO:0017400","hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome",1,"agreed"],["d","MONDO:0017407","deficiency in anterior pituitary function - variable immunodeficiency syndrome",1,"ungraded"],["d","MONDO:0017411","neonatal inflammatory skin and bowel disease",1,"ungraded"],["d","MONDO:0017417","renal-hepatic-pancreatic dysplasia",2,"ungraded"],["d","MONDO:0017435","popliteal pterygium syndrome",1,"single"],["d","MONDO:0017454","triphalangeal thumb-polysyndactyly syndrome",1,"single"],["d","MONDO:0017571","Proteus-like syndrome",1,"ungraded"],["d","MONDO:0017575","mitochondrial neurogastrointestinal encephalomyopathy",3,"ungraded"],["d","MONDO:0017576","46,XX disorder of sex development",2,"single"],["d","MONDO:0017579","Baraitser-Winter cerebrofrontofacial syndrome",2,"single"],["d","MONDO:0017593","juvenile amyotrophic lateral sclerosis",4,"ungraded"],["d","MONDO:0017610","epidermolysis bullosa simplex",3,"graded_apart"],["d","MONDO:0017612","junctional epidermolysis bullosa",4,"single"],["d","MONDO:0017615","benign familial infantile epilepsy",6,"single"],["d","MONDO:0017623","PTEN hamartoma tumor syndrome",1,"single"],["d","MONDO:0017627","congenital hereditary facial paralysis-variable hearing loss syndrome",1,"ungraded"],["d","MONDO:0017629","sodium channelopathy-related small fiber neuropathy",3,"ungraded"],["d","MONDO:0017630","X-linked complicated spastic paraplegia type 1",1,"ungraded"],["d","MONDO:0017675","punctate palmoplantar keratoderma",1,"single"],["d","MONDO:0017694","glycogen storage disease due to acid maltase deficiency, infantile onset",1,"ungraded"],["d","MONDO:0017704","familial partial epilepsy",1,"single"],["d","MONDO:0017708","mevalonate kinase deficiency",1,"single"],["d","MONDO:0017715","3-hydroxyacyl-CoA dehydrogenase deficiency",1,"agreed"],["d","MONDO:0017734","sialidosis",1,"single"],["d","MONDO:0017737","intermediate severe Salla disease",1,"ungraded"],["d","MONDO:0017740","disorder of protein N-glycosylation",1,"single"],["d","MONDO:0017746","atypical Rett syndrome",6,"single"],["d","MONDO:0017762","disorder of copper metabolism",1,"single"],["d","MONDO:0017763","disorder of iron metabolism and transport",1,"single"],["d","MONDO:0017771","Mayer-Rokitansky-Kuster-Hauser syndrome",3,"single"],["d","MONDO:0017778","lamellar ichthyosis",9,"ungraded"],["d","MONDO:0017779","alpha-N-acetylgalactosaminidase deficiency",1,"agreed"],["d","MONDO:0017782","developmental and speech delay due to SOX5 deficiency",1,"ungraded"],["d","MONDO:0017790","gastric adenocarcinoma and proximal polyposis of the stomach",1,"agreed"],["d","MONDO:0017791","high bone mass osteogenesis imperfecta",3,"ungraded"],["d","MONDO:0017809","parkinsonism due to ATP13A2 deficiency",1,"ungraded"],["d","MONDO:0017810","variant ABeta2M amyloidosis",1,"single"],["d","MONDO:0017813","van Maldergem syndrome",2,"single"],["d","MONDO:0017818","lethal arteriopathy syndrome due to fibulin-4 deficiency",1,"ungraded"],["d","MONDO:0017819","atypical dentin dysplasia due to SMOC2 deficiency",1,"single"],["d","MONDO:0017824","familial isolated pituitary adenoma",1,"ungraded"],["d","MONDO:0017830","severe Canavan disease",1,"ungraded"],["d","MONDO:0017831","mild Canavan disease",1,"ungraded"],["d","MONDO:0017838","sclerosteosis",2,"ungraded"],["d","MONDO:0017839","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",1,"ungraded"],["d","MONDO:0017840","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",1,"ungraded"],["d","MONDO:0017842","Senior-Loken syndrome",10,"single"],["d","MONDO:0017851","erythrokeratodermia variabilis",6,"single"],["d","MONDO:0017856","X-linked spasticity-intellectual disability-epilepsy syndrome",1,"ungraded"],["d","MONDO:0017868","diencephalic-mesencephalic junction dysplasia",1,"ungraded"],["d","MONDO:0017884","papillary renal cell carcinoma",1,"agreed"],["d","MONDO:0017892","autosomal recessive myogenic arthrogryposis multiplex congenita",1,"ungraded"],["d","MONDO:0017896","familial nonmedullary thyroid carcinoma",1,"single"],["d","MONDO:0017900","autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency",1,"ungraded"],["d","MONDO:0017901","autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency",1,"ungraded"],["d","MONDO:0017902","autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",1,"ungraded"],["d","MONDO:0017903","autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency",1,"ungraded"],["d","MONDO:0017909","inherited glutathione synthetase deficiency",1,"agreed"],["d","MONDO:0017910","dehydrated hereditary stomatocytosis",3,"ungraded"],["d","MONDO:0017917","maternally-inherited spastic paraplegia",1,"ungraded"],["d","MONDO:0017919","exstrophy-epispadias complex",2,"single"],["d","MONDO:0017923","multiple synostoses syndrome",3,"single"],["d","MONDO:0017925","T-cell immunodeficiency with epidermodysplasia verruciformis",1,"ungraded"],["d","MONDO:0017935","hyperinsulinism due to HNF1A deficiency",1,"ungraded"],["d","MONDO:0017936","benign Samaritan congenital myopathy",1,"ungraded"],["d","MONDO:0017937","autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain",1,"ungraded"],["d","MONDO:0017940","autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",1,"ungraded"],["d","MONDO:0017945","ABetaL34V amyloidosis",1,"ungraded"],["d","MONDO:0017946","ABeta amyloidosis, Iowa type",1,"ungraded"],["d","MONDO:0017947","ABeta amyloidosis, Italian type",1,"ungraded"],["d","MONDO:0017948","ABetaA21G amyloidosis",1,"ungraded"],["d","MONDO:0017949","ABeta amyloidosis, Arctic type",1,"ungraded"],["d","MONDO:0017953","hereditary periodic fever syndrome",1,"single"],["d","MONDO:0017979","autoimmune lymphoproliferative syndrome",3,"agreed"],["d","MONDO:0017985","congenital radioulnar synostosis",2,"single"],["d","MONDO:0017990","catecholaminergic polymorphic ventricular tachycardia",10,"graded_apart"],["d","MONDO:0017992","autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis",2,"ungraded"],["d","MONDO:0017994","severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency",1,"graded_apart"],["d","MONDO:0017998","PLA2G6-associated neurodegeneration",1,"single"],["d","MONDO:0018000","hereditary thrombocytosis with transverse limb defect",1,"ungraded"],["d","MONDO:0018002","adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",2,"ungraded"],["d","MONDO:0018005","spastic paraplegia-Paget disease of bone syndrome",1,"ungraded"],["d","MONDO:0018006","adult-onset distal myopathy due to VCP mutation",1,"ungraded"],["d","MONDO:0018023","hemoglobin M disease",3,"graded_apart"],["d","MONDO:0018029","congenital factor XIII deficiency",2,"ungraded"],["d","MONDO:0018045","Hoyeraal-Hreidarsson syndrome",6,"ungraded"],["d","MONDO:0018050","tibial aplasia-ectrodactyly syndrome",1,"single"],["d","MONDO:0018053","trichothiodystrophy",8,"single"],["d","MONDO:0018054","familial atrial fibrillation",17,"ungraded"],["d","MONDO:0018060","congenital fibrinogen deficiency",3,"agreed"],["d","MONDO:0018065","isolated trigonocephaly",2,"ungraded"],["d","MONDO:0018072","persistent truncus arteriosus",1,"ungraded"],["d","MONDO:0018075","neural tube defect",2,"single"],["d","MONDO:0018088","familial Mediterranean fever",1,"agreed"],["d","MONDO:0018094","Waardenburg syndrome",4,"disputed"],["d","MONDO:0018096","Weill-Marchesani syndrome",3,"ungraded"],["d","MONDO:0018097","infantile spasms",1,"single"],["d","MONDO:0018100","familial primary hypomagnesemia",1,"single"],["d","MONDO:0018102","corneal dystrophy",1,"single"],["d","MONDO:0018105","Wolfram syndrome",2,"single"],["d","MONDO:0018112","isolated scaphocephaly",1,"ungraded"],["d","MONDO:0018114","isolated brachycephaly",4,"ungraded"],["d","MONDO:0018116","galactosemia",1,"single"],["d","MONDO:0018123","intellectual disability-obesity-brain malformations-facial dysmorphism syndrome",1,"single"],["d","MONDO:0018125","focal epilepsy-intellectual disability-cerebro-cerebellar malformation",1,"ungraded"],["d","MONDO:0018126","progressive myoclonic epilepsy with dystonia",1,"ungraded"],["d","MONDO:0018129","autosomal recessive cerebellar ataxia with late-onset spasticity",1,"ungraded"],["d","MONDO:0018130","brain dopamine-serotonin vesicular transport disease",1,"agreed"],["d","MONDO:0018133","attenuated Chédiak-Higashi syndrome",1,"ungraded"],["d","MONDO:0018135","oculocutaneous albinism type 1",1,"single"],["d","MONDO:0018136","minimal pigment oculocutaneous albinism type 1",1,"ungraded"],["d","MONDO:0018137","temperature-sensitive oculocutaneous albinism type 1",1,"ungraded"],["d","MONDO:0018141","pyruvate carboxylase deficiency, infantile form",1,"ungraded"],["d","MONDO:0018142","pyruvate carboxylase deficiency, severe neonatal type",1,"ungraded"],["d","MONDO:0018143","pyruvate carboxylase deficiency, benign type",1,"ungraded"],["d","MONDO:0018144","congenital myasthenic syndromes with glycosylation defect",5,"ungraded"],["d","MONDO:0018149","GM1 gangliosidosis",1,"agreed"],["d","MONDO:0018150","Gaucher disease",1,"agreed"],["d","MONDO:0018151","coenzyme Q10 deficiency",1,"single"],["d","MONDO:0018155","lateral sclerosis",1,"ungraded"],["d","MONDO:0018158","mitochondrial DNA depletion syndrome",3,"single"],["d","MONDO:0018159","atypical hemolytic-uremic syndrome with DGKE deficiency",1,"single"],["d","MONDO:0018160","hereditary retinoblastoma",1,"agreed"],["d","MONDO:0018162","neurometabolic disorder due to serine deficiency",3,"agreed"],["d","MONDO:0018163","autosomal recessive cutis laxa type 2A",1,"agreed"],["d","MONDO:0018175","combined deficiency of factor V and factor VIII",2,"ungraded"],["d","MONDO:0018188","hereditary intestinal polyposis",1,"single"],["d","MONDO:0018197","mitochondrial DNA depletion syndrome, hepatocerebrorenal form",1,"ungraded"],["d","MONDO:0018203","LMNA-related cardiocutaneous progeria syndrome",1,"ungraded"],["d","MONDO:0018206","childhood-onset autosomal recessive myopathy with external ophthalmoplegia",1,"ungraded"],["d","MONDO:0018210","Alexander disease type II",1,"ungraded"],["d","MONDO:0018213","hereditary sensory and autonomic neuropathy type 1",4,"ungraded"],["d","MONDO:0018214","generalized epilepsy with febrile seizures plus",5,"agreed"],["d","MONDO:0018217","Koolen-de Vries syndrome due to a point mutation",1,"ungraded"],["d","MONDO:0018218","autosomal recessive cerebral atrophy",1,"ungraded"],["d","MONDO:0018222","X-linked intellectual disability due to GRIA3 anomalies",1,"ungraded"],["d","MONDO:0018226","infantile epileptic-dyskinetic encephalopathy",1,"ungraded"],["d","MONDO:0018227","hypocomplementemic urticarial vasculitis",1,"ungraded"],["d","MONDO:0018230","skeletal dysplasia",11,"single"],["d","MONDO:0018234","dysostosis",1,"single"],["d","MONDO:0018240","TRPV4-related bone disorder",1,"agreed"],["d","MONDO:0018243","intellectual disability-hyperkinetic movement-truncal ataxia syndrome",1,"ungraded"],["d","MONDO:0018244","obesity due to SIM1 deficiency",1,"single"],["d","MONDO:0018250","diffuse palmoplantar keratoderma with painful fissures",1,"ungraded"],["d","MONDO:0018252","focal palmoplantar keratoderma with joint keratoses",1,"ungraded"],["d","MONDO:0018264","oculocutaneous albinism type 6",1,"agreed"],["d","MONDO:0018273","XYLT1-congenital disorder of glycosylation",1,"ungraded"],["d","MONDO:0018274","GM3 synthase deficiency",1,"agreed"],["d","MONDO:0018276","muscular dystrophy-dystroglycanopathy",4,"single"],["d","MONDO:0018277","congenital muscular dystrophy with cerebellar involvement",6,"ungraded"],["d","MONDO:0018278","congenital muscular dystrophy with intellectual disability",5,"ungraded"],["d","MONDO:0018279","congenital muscular dystrophy without intellectual disability",4,"ungraded"],["d","MONDO:0018282","neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan",1,"agreed"],["d","MONDO:0018298","multicentric osteolysis-nodulosis-arthropathy spectrum",2,"ungraded"],["d","MONDO:0018305","chronic granulomatous disease",6,"ungraded"],["d","MONDO:0018309","Hirschsprung disease",8,"single"],["d","MONDO:0018314","infantile-onset mesial temporal lobe epilepsy with severe cognitive regression",1,"ungraded"],["d","MONDO:0018315","X-linked osteoporosis with fractures",1,"agreed"],["d","MONDO:0018316","fatal post-viral neurodegenerative disorder",1,"ungraded"],["d","MONDO:0018317","growth retardation-mild developmental delay-chronic hepatitis syndrome",1,"ungraded"],["d","MONDO:0018320","primary microcephaly-mild intellectual disability-young-onset diabetes syndrome",2,"ungraded"],["d","MONDO:0018321","atypical juvenile parkinsonism",3,"ungraded"],["d","MONDO:0018322","HSD10 disease, infantile type",1,"ungraded"],["d","MONDO:0018323","HSD10 disease, neonatal type",1,"ungraded"],["d","MONDO:0018326","transient neonatal myasthenia gravis",1,"single"],["d","MONDO:0018328","homozygous familial hypercholesterolemia",4,"ungraded"],["d","MONDO:0018335","deep dermatophytosis",1,"single"],["d","MONDO:0018337","severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency",2,"ungraded"],["d","MONDO:0018339","PrP systemic amyloidosis",1,"ungraded"],["d","MONDO:0018342","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",2,"ungraded"],["d","MONDO:0018343","periodic paralysis with later-onset distal motor neuropathy",2,"ungraded"],["d","MONDO:0018346","ferro-cerebro-cutaneous syndrome",1,"ungraded"],["d","MONDO:0018347","severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome",1,"ungraded"],["d","MONDO:0018348","polyglucosan body myopathy type 1",1,"ungraded"],["d","MONDO:0018349","MAN1B1-congenital disorder of glycosylation",1,"single"],["d","MONDO:0018393","male infertility with azoospermia or oligozoospermia due to single gene mutation",53,"single"],["d","MONDO:0018416","autosomal recessive spastic paraplegia type 59",1,"ungraded"],["d","MONDO:0018417","autosomal recessive spastic paraplegia type 60",1,"ungraded"],["d","MONDO:0018418","autosomal recessive spastic paraplegia type 66",1,"ungraded"],["d","MONDO:0018419","autosomal recessive spastic paraplegia type 67",1,"ungraded"],["d","MONDO:0018421","autosomal recessive spastic paraplegia type 69",1,"ungraded"],["d","MONDO:0018423","autosomal recessive spastic paraplegia type 71",1,"ungraded"],["d","MONDO:0018430","partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome",1,"ungraded"],["d","MONDO:0018440","autosomal recessive distal renal tubular acidosis",3,"single"],["d","MONDO:0018443","FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome",1,"ungraded"],["d","MONDO:0018445","global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome",1,"single"],["d","MONDO:0018450","spinal muscular atrophy with respiratory distress type 2",1,"ungraded"],["d","MONDO:0018453","familial atypical multiple mole melanoma syndrome",1,"ungraded"],["d","MONDO:0018463","mild phosphoribosylpyrophosphate synthetase superactivity",1,"ungraded"],["d","MONDO:0018464","severe phosphoribosylpyrophosphate synthetase superactivity",1,"ungraded"],["d","MONDO:0018466","hereditary late onset Parkinson disease",4,"ungraded"],["d","MONDO:0018467","nephropathic infantile cystinosis",1,"ungraded"],["d","MONDO:0018470","renal agenesis",3,"single"],["d","MONDO:0018472","familial isolated trichomegaly",1,"ungraded"],["d","MONDO:0018473","hyperlipoproteinemia type 3",1,"graded_apart"],["d","MONDO:0018475","PRKAR1B-related neurodegenerative dementia with intermediate filaments",1,"ungraded"],["d","MONDO:0018485","glycogen storage disease due to acid maltase deficiency, late-onset",1,"ungraded"],["d","MONDO:0018487","autosomal recessive severe congenital neutropenia due to CXCR2 deficiency",1,"single"],["d","MONDO:0018493","malignant hyperthermia of anesthesia",2,"single"],["d","MONDO:0018494","microcephaly-short stature-intellectual disability-facial dysmorphism syndrome",1,"ungraded"],["d","MONDO:0018495","X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome",1,"ungraded"],["d","MONDO:0018507","microcephaly-complex motor and sensory axonal neuropathy syndrome",1,"ungraded"],["d","MONDO:0018528","congenital myopathy with myasthenic-like onset",2,"single"],["d","MONDO:0018540","PFAPA syndrome",1,"single"],["d","MONDO:0018542","severe congenital neutropenia",1,"single"],["d","MONDO:0018543","autosomal dominant hypocalcemia",2,"ungraded"],["d","MONDO:0018544","adrenoleukodystrophy",2,"agreed"],["d","MONDO:0018554","pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis",1,"single"],["d","MONDO:0018555","hypogonadotropic hypogonadism",21,"single"],["d","MONDO:0018566","short stature-advanced bone age-early-onset osteoarthritis syndrome",1,"ungraded"],["d","MONDO:0018567","autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",1,"ungraded"],["d","MONDO:0018569","X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome",1,"ungraded"],["d","MONDO:0018570","hypophosphatasia",1,"agreed"],["d","MONDO:0018573","intrauterine growth restriction-short stature-early adult-onset diabetes syndrome",1,"ungraded"],["d","MONDO:0018574","intellectual disability-expressive aphasia-facial dysmorphism syndrome",1,"ungraded"],["d","MONDO:0018575","microcephalic primordial dwarfism-insulin resistance syndrome",2,"ungraded"],["d","MONDO:0018576","non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy",1,"ungraded"],["d","MONDO:0018577","pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa",1,"ungraded"],["d","MONDO:0018582","GCGR-related hyperglucagonemia",1,"disputed"],["d","MONDO:0018601","autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome",1,"ungraded"],["d","MONDO:0018603","SFTPC-related interstitial lung disease",1,"single"],["d","MONDO:0018604","familial colorectal cancer type X",2,"ungraded"],["d","MONDO:0018610","early-onset posterior subcapsular cataract",5,"ungraded"],["d","MONDO:0018611","early-onset lamellar cataract",11,"ungraded"],["d","MONDO:0018612","congenital hypothyroidism",5,"agreed"],["d","MONDO:0018614","undetermined early-onset epileptic encephalopathy",38,"single"],["d","MONDO:0018630","hereditary nonpolyposis colon cancer",12,"single"],["d","MONDO:0018631","Marie Unna hereditary hypotrichosis",2,"ungraded"],["d","MONDO:0018634","hereditary amyloidosis",1,"single"],["d","MONDO:0018636","autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome",1,"ungraded"],["d","MONDO:0018642","NIK deficiency",1,"graded_apart"],["d","MONDO:0018643","susceptibility to localized juvenile periodontitis",1,"ungraded"],["d","MONDO:0018644","autosomal dominant complex spastic paraplegia type 9B",1,"ungraded"],["d","MONDO:0018653","Polymerase proofreading-related adenomatous polyposis",2,"ungraded"],["d","MONDO:0018655","hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",1,"ungraded"],["d","MONDO:0018656","tremor-ataxia-central hypomyelination syndrome",1,"ungraded"],["d","MONDO:0018657","pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome",1,"agreed"],["d","MONDO:0018662","autosomal recessive brachyolmia",1,"ungraded"],["d","MONDO:0018663","regressive spondylometaphyseal dysplasia",1,"graded_apart"],["d","MONDO:0018677","visceral heterotaxy",6,"single"],["d","MONDO:0018681","neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome",1,"single"],["d","MONDO:0018682","congenital insensitivity to pain with severe intellectual disability",1,"ungraded"],["d","MONDO:0018698","hereditary neuroendocrine tumor of small intestine",1,"ungraded"],["d","MONDO:0018706","syndromic sensorineural deafness due to combined oxidative phosphorylation defect",1,"ungraded"],["d","MONDO:0018709","X-linked intellectual disability-hypotonia-movement disorder syndrome",1,"ungraded"],["d","MONDO:0018710","megalencephaly-severe kyphoscoliosis-overgrowth syndrome",1,"ungraded"],["d","MONDO:0018715","congenital hemangioma",2,"single"],["d","MONDO:0018724","X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome",1,"ungraded"],["d","MONDO:0018742","familial gastric type 1 neuroendocrine tumor",1,"ungraded"],["d","MONDO:0018749","hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome",4,"single"],["d","MONDO:0018750","class I glucose-6-phosphate dehydrogenase deficiency",1,"ungraded"],["d","MONDO:0018758","familial patent arterial duct",2,"ungraded"],["d","MONDO:0018759","childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome",1,"ungraded"],["d","MONDO:0018760","DeSanto-Shinawi syndrome",1,"single"],["d","MONDO:0018763","tubulinopathy-associated dysgyria",3,"ungraded"],["d","MONDO:0018764","microcephalic primordial dwarfism due to RTTN deficiency",1,"agreed"],["d","MONDO:0018765","cryptogenic multifocal ulcerous stenosing enteritis",1,"ungraded"],["d","MONDO:0018766","chronic enteropathy associated with SLCO2A1 gene",1,"ungraded"],["d","MONDO:0018767","severe primary trimethylaminuria",1,"agreed"],["d","MONDO:0018768","familial cold autoinflammatory syndrome",1,"single"],["d","MONDO:0018770","Jeune syndrome",12,"agreed"],["d","MONDO:0018772","Joubert syndrome",23,"graded_apart"],["d","MONDO:0018773","autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",1,"ungraded"],["d","MONDO:0018776","demyelinating hereditary motor and sensory neuropathy",2,"graded_apart"],["d","MONDO:0018777","autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome",1,"ungraded"],["d","MONDO:0018780","congenital generalized hypercontractile muscle stiffness syndrome",1,"ungraded"],["d","MONDO:0018781","KID syndrome",2,"ungraded"],["d","MONDO:0018786","pontine autosomal dominant microangiopathy with leukoencephalopathy",1,"ungraded"],["d","MONDO:0018787","genetic cerebral small vessel 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juvenile osteoporosis",1,"disputed"],["d","MONDO:0019412","dysspondyloenchondromatosis",1,"ungraded"],["d","MONDO:0019414","BRESEK syndrome",1,"ungraded"],["d","MONDO:0019428","fried syndrome",1,"ungraded"],["d","MONDO:0019441","ATTRV122I amyloidosis",1,"ungraded"],["d","MONDO:0019448","benign adult familial myoclonic epilepsy",6,"ungraded"],["d","MONDO:0019450","lissencephaly with cerebellar hypoplasia",2,"single"],["d","MONDO:0019475","subcutaneous panniculitis-like T-cell lymphoma",1,"agreed"],["d","MONDO:0019490","progressive familial heart block",3,"ungraded"],["d","MONDO:0019497","nonsyndromic genetic hearing loss",100,"graded_apart"],["d","MONDO:0019502","autosomal recessive non-syndromic intellectual disability",41,"ungraded"],["d","MONDO:0019503","anterior segment dysgenesis",4,"single"],["d","MONDO:0019505","hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome",3,"ungraded"],["d","MONDO:0019507","amelogenesis imperfecta",2,"single"],["d","MONDO:0019508","van der 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type",5,"ungraded"],["d","MONDO:0019666","spondyloepimetaphyseal dysplasia, PAPSS2 type",1,"agreed"],["d","MONDO:0019667","spondyloepiphyseal dysplasia tarda",1,"ungraded"],["d","MONDO:0019669","hypochondrogenesis",1,"ungraded"],["d","MONDO:0019673","postaxial polydactyly type A",6,"ungraded"],["d","MONDO:0019675","spondyloepimetaphyseal dysplasia with joint laxity",1,"single"],["d","MONDO:0019677","brachydactyly type E",2,"ungraded"],["d","MONDO:0019681","juvenile sialidosis type 2",1,"ungraded"],["d","MONDO:0019682","congenital sialidosis type 2",1,"ungraded"],["d","MONDO:0019688","sulfation-related bone disorder",1,"single"],["d","MONDO:0019690","filamin-related bone disorder",1,"single"],["d","MONDO:0019695","acromelic dysplasia",1,"single"],["d","MONDO:0019696","acromesomelic dysplasia",1,"single"],["d","MONDO:0019716","overgrowth syndrome",1,"single"],["d","MONDO:0019719","congenital anomaly of kidney and urinary tract",17,"disputed"],["d","MONDO:0019720","non-syndromic renal or urinary tract malformation",1,"single"],["d","MONDO:0019725","pediatric systemic lupus erythematosus",1,"single"],["d","MONDO:0019731","AApoAI amyloidosis",1,"ungraded"],["d","MONDO:0019732","ALys amyloidosis",1,"ungraded"],["d","MONDO:0019733","AFib amyloidosis",1,"ungraded"],["d","MONDO:0019736","dense deposit disease",2,"ungraded"],["d","MONDO:0019742","late-onset nephronophthisis",3,"ungraded"],["d","MONDO:0019745","cystinuria type A",1,"ungraded"],["d","MONDO:0019746","cystinuria type B",1,"ungraded"],["d","MONDO:0019751","autoinflammatory syndrome",8,"graded_apart"],["d","MONDO:0019755","developmental defect during embryogenesis",1,"single"],["d","MONDO:0019766","X-linked intellectual disability, Porteous type",1,"ungraded"],["d","MONDO:0019767","hamel cerebro-palato-cardiac syndrome",1,"ungraded"],["d","MONDO:0019768","X-linked intellectual disability, Golabi-Ito-hall type",1,"ungraded"],["d","MONDO:0019769","X-linked intellectual disability, Sutherland-Haan 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myopathy",13,"agreed"],["d","MONDO:0019975","pellagra",1,"agreed"],["d","MONDO:0019978","Robinow syndrome",1,"single"],["d","MONDO:0019981","unilateral multicystic dysplastic kidney",1,"ungraded"],["d","MONDO:0019992","pseudohypoparathyroidism",1,"single"],["d","MONDO:0020022","central nervous system malformation",3,"single"],["d","MONDO:0020040","46 XY differences of sex development",1,"disputed"],["d","MONDO:0020065","combined dystonia",1,"single"],["d","MONDO:0020066","Ehlers-Danlos syndrome",5,"single"],["d","MONDO:0020072","childhood-onset epilepsy syndrome",1,"single"],["d","MONDO:0020074","progressive myoclonus epilepsy",10,"agreed"],["d","MONDO:0020083","immunodeficiency-associated lymphoproliferative disease",1,"single"],["d","MONDO:0020087","hereditary lipodystrophy",1,"single"],["d","MONDO:0020119","X-linked syndromic intellectual disability",10,"agreed"],["d","MONDO:0020121","muscular dystrophy",2,"agreed"],["d","MONDO:0020127","hereditary peripheral 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filaments",1,"single"],["d","MONDO:0020364","posterior polymorphous corneal dystrophy",5,"single"],["d","MONDO:0020366","congenital glaucoma",7,"single"],["d","MONDO:0020367","juvenile open angle glaucoma",2,"single"],["d","MONDO:0020368","Axenfeld anomaly",2,"ungraded"],["d","MONDO:0020372","early-onset sutural cataract",6,"ungraded"],["d","MONDO:0020373","early-onset anterior polar cataract",4,"ungraded"],["d","MONDO:0020374","cerulean cataract",4,"ungraded"],["d","MONDO:0020375","coralliform cataract",1,"ungraded"],["d","MONDO:0020376","early-onset nuclear cataract",18,"ungraded"],["d","MONDO:0020378","early-onset posterior polar cataract",8,"ungraded"],["d","MONDO:0020380","autosomal dominant cerebellar ataxia",1,"single"],["d","MONDO:0020381","patterned macular dystrophy",3,"ungraded"],["d","MONDO:0020382","multifocal pattern dystrophy simulating fundus flavimaculatus",1,"ungraded"],["d","MONDO:0020459","unstable hemoglobin disease",3,"single"],["d","MONDO:0020478","Leber plus disease",3,"ungraded"],["d","MONDO:0020479","pituitary gigantism",2,"ungraded"],["d","MONDO:0020480","sulfite oxidase deficiency due to molybdenum cofactor deficiency",1,"single"],["d","MONDO:0020481","myotonia fluctuans",1,"ungraded"],["d","MONDO:0020482","myotonia permanens",1,"ungraded"],["d","MONDO:0020483","acetazolamide-responsive myotonia",1,"ungraded"],["d","MONDO:0020485","King-Denborough syndrome",1,"ungraded"],["d","MONDO:0020491","subcortical band heterotopia",2,"single"],["d","MONDO:0020493","Haddad syndrome",3,"single"],["d","MONDO:0020495","PEHO-like syndrome",1,"graded_apart"],["d","MONDO:0020496","familial porencephaly",2,"ungraded"],["d","MONDO:0020503","resistance to thyrotropin-releasing hormone syndrome",1,"ungraded"],["d","MONDO:0020504","hereditary recurrent myoglobinuria",3,"ungraded"],["d","MONDO:0020506","ovarioleukodystrophy",6,"ungraded"],["d","MONDO:0020507","leukoencephalopathy with vanishing white matter 1",5,"agreed"],["d","MONDO:0020525","transient neonatal diabetes mellitus",9,"single"],["d","MONDO:0020530","Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency",1,"ungraded"],["d","MONDO:0020531","long chain acyl-CoA dehydrogenase deficiency",1,"single"],["d","MONDO:0020558","autosomal dominant Charcot-Marie-Tooth disease type 2K",1,"ungraded"],["d","MONDO:0020569","intermediate DEND syndrome",1,"ungraded"],["d","MONDO:0020587","factor XI deficiency",1,"single"],["d","MONDO:0020602","Simpson-Golabi-Behmel syndrome type 1",1,"agreed"],["d","MONDO:0020603","X-linked chondrodysplasia punctata 2",1,"agreed"],["d","MONDO:0020607","Liddle syndrome 1",1,"agreed"],["d","MONDO:0020612","blood group, kidd system",1,"single"],["d","MONDO:0020616","blood group, mn",1,"single"],["d","MONDO:0020620","blood group, ss",1,"single"],["d","MONDO:0020628","microcephaly, growth restriction, and increased sister chromatid exchange 2",1,"agreed"],["d","MONDO:0020630","developmental and epileptic encephalopathy 91",1,"graded_apart"],["d","MONDO:0020631","developmental and epileptic encephalopathy 92",1,"agreed"],["d","MONDO:0020632","developmental and epileptic encephalopathy 93",2,"graded_apart"],["d","MONDO:0020642","polycystic kidney disease",3,"agreed"],["d","MONDO:0020643","autism susceptibility 1",1,"single"],["d","MONDO:0020647","microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome",1,"disputed"],["d","MONDO:0020667","Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",1,"agreed"],["d","MONDO:0020678","sensorineural hearing loss disorder",5,"graded_apart"],["d","MONDO:0020681","Ehlers-Danlos syndrome, musculocontractural type 1",1,"agreed"],["d","MONDO:0020682","Ehlers-Danlos syndrome, spondylodysplastic type, 1",1,"graded_apart"],["d","MONDO:0020684","Ehlers-Danlos syndrome, periodontal type 1",1,"agreed"],["d","MONDO:0020692","spondylocostal dysostosis 1, autosomal recessive",1,"agreed"],["d","MONDO:0020693","glycogen storage disease due to liver phosphorylase kinase deficiency",2,"ungraded"],["d","MONDO:0020704","inherited rippling muscle disease",1,"ungraded"],["d","MONDO:0020705","neural tube defects, susceptibility to",6,"graded_apart"],["d","MONDO:0020712","46,XY sex reversal 1",1,"agreed"],["d","MONDO:0020713","pulmonary venoocclusive disease 1",1,"single"],["d","MONDO:0020714","mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy",1,"graded_apart"],["d","MONDO:0020716","thyroid dyshormonogenesis 1",1,"agreed"],["d","MONDO:0020717","autosomal dominant wooly hair",1,"disputed"],["d","MONDO:0020718","congenital short bowel syndrome, autosomal recessive",1,"graded_apart"],["d","MONDO:0020721","X-linked sideroblastic anemia 1",1,"agreed"],["d","MONDO:0020722","nephrolithiasis susceptibility caused by SLC26A1",1,"graded_apart"],["d","MONDO:0020723","vitamin D-dependent rickets, type 1A",1,"agreed"],["d","MONDO:0020724","cerebral cavernous malformation 1",1,"agreed"],["d","MONDO:0020726","tubulointerstitial kidney disease, autosomal dominant, 2",1,"disputed"],["d","MONDO:0020727","combined oxidative phosphorylation deficiency 22",1,"single"],["d","MONDO:0020728","hypouricemia, renal 1",1,"agreed"],["d","MONDO:0020729","autosomal recessive agammaglobulinemia 1",1,"agreed"],["d","MONDO:0020730","carpal tunnel syndrome 1",1,"single"],["d","MONDO:0020734","erythrocyte AMP deaminase deficiency",1,"single"],["d","MONDO:0020736","uncombable hair syndrome 1",1,"disputed"],["d","MONDO:0020737","optic atrophy 10 with or without ataxia, intellectual disability, and seizures",1,"graded_apart"],["d","MONDO:0020738","skin creases, congenital symmetric circumferential, 1",1,"graded_apart"],["d","MONDO:0020739","hypercalcemia, infantile, 1",1,"agreed"],["d","MONDO:0020740","ectodermal dysplasia and immunodeficiency 1",1,"single"],["d","MONDO:0020741","pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",1,"agreed"],["d","MONDO:0020746","contractures, pterygia, and variable skeletal fusions syndrome 1B",1,"graded_apart"],["d","MONDO:0020747","sitosterolemia 1",2,"agreed"],["d","MONDO:0020748","sitosterolemia 2",1,"agreed"],["d","MONDO:0020749","polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",1,"graded_apart"],["d","MONDO:0020750","polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2",1,"graded_apart"],["d","MONDO:0020751","orthostatic hypotension 2",1,"single"],["d","MONDO:0020754","visceral myopathy 1",1,"disputed"],["d","MONDO:0020756","migraine, familial hemiplegic, 1",1,"agreed"],["d","MONDO:0020762","diencephalic-mesencephalic junction dysplasia syndrome 2",1,"graded_apart"],["d","MONDO:0020763","Menke-Hennekam syndrome 1",1,"agreed"],["d","MONDO:0020765","neuropathy, congenital hypomyelinating, 2",1,"single"],["d","MONDO:0020770","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3",1,"graded_apart"],["d","MONDO:0020775","congenital disorder of glycosylation with defective fucosylation 1",1,"graded_apart"],["d","MONDO:0020777","congenital disorder of glycosylation with defective fucosylation 2",1,"disputed"],["d","MONDO:0020778","cone-rod dystrophy and hearing loss 1",1,"agreed"],["d","MONDO:0020780","cone-rod dystrophy and hearing loss 2",1,"agreed"],["d","MONDO:0020781","encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1",1,"agreed"],["d","MONDO:0020783","capillary malformation-arteriovenous malformation 1",1,"disputed"],["d","MONDO:0020784","short sleep, familial natural, 1",1,"single"],["d","MONDO:0020785","capillary malformation-arteriovenous malformation 2",1,"agreed"],["d","MONDO:0020786","short sleep, familial natural, 2",1,"single"],["d","MONDO:0020787","hypomagnesemia, seizures, and intellectual disability 1",1,"agreed"],["d","MONDO:0020788","hypomagnesemia, seizures, and intellectual disability 2",1,"disputed"],["d","MONDO:0020789","pseudo-TORCH syndrome 1",1,"graded_apart"],["d","MONDO:0020790","gaze palsy, familial horizontal, with progressive scoliosis 1",1,"agreed"],["d","MONDO:0020791","corneal dystrophy, Meesmann, 1",2,"agreed"],["d","MONDO:0020793","oculopharyngodistal myopathy 1",1,"graded_apart"],["d","MONDO:0020795","Silver-Russell syndrome 5",1,"agreed"],["d","MONDO:0020798","hypoparathyroidism, familial isolated, 2",1,"single"],["d","MONDO:0020820","distal arthrogryposis type 2B1",3,"graded_apart"],["d","MONDO:0020831","congenital vertebral-cardiac-renal anomalies syndrome",3,"ungraded"],["d","MONDO:0020835","methemoglobinemia, alpha type",2,"disputed"],["d","MONDO:0020836","autism, susceptiblity to",1,"single"],["d","MONDO:0020837","oocyte maturation defect 5",1,"agreed"],["d","MONDO:0020840","pulmonary alveolar proteinosis with hypogammaglobulinemia",1,"agreed"],["d","MONDO:0020841","neurodevelopmental disorder with cerebellar atrophy and with or without seizures",1,"agreed"],["d","MONDO:0020845","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",1,"disputed"],["d","MONDO:0020846","intellectual disability, autosomal recessive 64",1,"disputed"],["d","MONDO:0020847","intellectual disability, autosomal dominant 58",1,"agreed"],["d","MONDO:0020848","osteopetrosis, autosomal dominant 3",1,"disputed"],["d","MONDO:0020849","immunodeficiency 57",1,"agreed"],["d","MONDO:0020850","intellectual disability, autosomal recessive 65",1,"disputed"],["d","MONDO:0020851","spermatogenic failure 30",1,"disputed"],["d","MONDO:0020852","spermatogenic failure 31",1,"disputed"],["d","MONDO:0020853","encephalitis/encephalopathy, mild, with reversible myelin vacuolization",1,"agreed"],["d","MONDO:0020854","Liddle syndrome 2",1,"graded_apart"],["d","MONDO:0020855","spermatogenic failure 32",1,"single"],["d","MONDO:0020856","bone marrow failure syndrome 4",1,"disputed"],["d","MONDO:0020857","ovarian dysgenesis 7",1,"disputed"],["d","MONDO:0020858","mitochondrial complex V (ATP synthase) deficiency, nuclear type 5",1,"disputed"],["d","MONDO:0020927","postaxial polydactyly",1,"single"],["d","MONDO:0020937","contractures, pterygia, and variable skeletal fusions syndrome",1,"single"],["d","MONDO:0020989","hereditary persistence of fetal hemoglobin",1,"single"],["d","MONDO:0021001","hemochromatosis type 1",1,"agreed"],["d","MONDO:0021003","polydactyly",2,"single"],["d","MONDO:0021004","brachydactyly",2,"single"],["d","MONDO:0021011","hereditary progressive chorea without dementia",1,"single"],["d","MONDO:0021013","trichothiodystrophy 4, nonphotosensitive",1,"agreed"],["d","MONDO:0021018","autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",1,"agreed"],["d","MONDO:0021019","X-linked recessive ocular albinism",1,"single"],["d","MONDO:0021020","Crigler-Najjar syndrome type 1",1,"agreed"],["d","MONDO:0021021","craniodiaphyseal dysplasia, autosomal dominant",1,"agreed"],["d","MONDO:0021022","hereditary hyperekplexia",5,"ungraded"],["d","MONDO:0021023","complete androgen insensitivity syndrome",1,"ungraded"],["d","MONDO:0021035","alopecia-intellectual disability syndrome 1",1,"agreed"],["d","MONDO:0021056","familial adenomatous polyposis 1",1,"agreed"],["d","MONDO:0021057","classic or attenuated familial adenomatous polyposis",1,"single"],["d","MONDO:0021060","RASopathy",4,"single"],["d","MONDO:0021061","neurofibromatosis",1,"single"],["d","MONDO:0021083","congenital fibrosis of extraocular muscles type 1",1,"agreed"],["d","MONDO:0021093","cranioectodermal dysplasia 1",1,"agreed"],["d","MONDO:0021094","immunodeficiency disease",14,"single"],["d","MONDO:0021124","female infertility",1,"single"],["d","MONDO:0021129","microphthalmia",4,"single"],["d","MONDO:0021166","inflammatory disease",1,"single"],["d","MONDO:0021181","inherited blood coagulation disorder",1,"single"],["d","MONDO:0021190","DNA repair disease",1,"single"],["d","MONDO:0021547","amelogenesis imperfecta type 3B",1,"agreed"],["d","MONDO:0021548","total early-onset cataract",15,"ungraded"],["d","MONDO:0021568","renal tubule disorder",1,"single"],["d","MONDO:0021569","Emery-Dreifuss muscular dystrophy 2, autosomal dominant",1,"agreed"],["d","MONDO:0021573","oocyte maturation defect 2",1,"agreed"],["d","MONDO:0021574","oocyte maturation defect 3",1,"graded_apart"],["d","MONDO:0021575","oocyte maturation defect 4",1,"agreed"],["d","MONDO:0021809","primary dysautonomia",1,"agreed"],["d","MONDO:0021944","auditory neuropathy",1,"single"],["d","MONDO:0022409","nephropathy-associated ciliopathy",1,"single"],["d","MONDO:0022723","chondrodysplasia",1,"single"],["d","MONDO:0023069","enlarged vestibular aqueduct syndrome",2,"single"],["d","MONDO:0023113","familial colorectal cancer",3,"single"],["d","MONDO:0023122","familial prostate carcinoma",2,"single"],["d","MONDO:0023258","glycogen storage disease type 1 due to SLC37A4 mutation",1,"single"],["d","MONDO:0023603","hereditary disorder of connective tissue",1,"single"],["d","MONDO:0023655","immunodeficiency 14b, autosomal recessive",1,"disputed"],["d","MONDO:0023657","intellectual developmental disorder, autosomal dominant 65",1,"agreed"],["d","MONDO:0023659","developmental and epileptic encephalopathy 96",1,"graded_apart"],["d","MONDO:0023660","angioedema, hereditary, 6",1,"graded_apart"],["d","MONDO:0023662","lymphatic malformation 10",1,"disputed"],["d","MONDO:0023670","Bardet-Biedl syndrome 20",1,"single"],["d","MONDO:0023691","maple syrup urine disease type 1A",3,"agreed"],["d","MONDO:0023692","maple syrup urine disease type 1B",1,"agreed"],["d","MONDO:0023693","maple syrup urine disease type 2",1,"agreed"],["d","MONDO:0023880","WHIM syndrome",1,"single"],["d","MONDO:0024237","inherited neurodegenerative disorder",4,"single"],["d","MONDO:0024264","hypothyroidism, congenital, nongoitrous, 2",1,"agreed"],["d","MONDO:0024266","patent ductus arteriosus 3",1,"disputed"],["d","MONDO:0024291","vascular malformation",2,"single"],["d","MONDO:0024296","vascular neoplasm",1,"single"],["d","MONDO:0024300","hypophosphatemic rickets",1,"agreed"],["d","MONDO:0024304","ichthyosis vulgaris",1,"single"],["d","MONDO:0024309","neuropathy, hereditary sensory and autonomic, type 2A",1,"agreed"],["d","MONDO:0024322","disorder of glycosylation",1,"graded_apart"],["d","MONDO:0024455","autosomal dominant Robinow syndrome 1",1,"graded_apart"],["d","MONDO:0024456","anterior segment dysgenesis 3",1,"single"],["d","MONDO:0024457","neurodegeneration with brain iron accumulation 2A",1,"agreed"],["d","MONDO:0024458","disorder of visual system",3,"single"],["d","MONDO:0024463","ovarian dysgenesis 1",1,"agreed"],["d","MONDO:0024464","pituitary hormone deficiency, combined, 1",1,"agreed"],["d","MONDO:0024465","surfactant metabolism dysfunction, pulmonary, 2",1,"agreed"],["d","MONDO:0024498","glioma susceptibility 1",1,"single"],["d","MONDO:0024506","Adams-Oliver syndrome 1",1,"agreed"],["d","MONDO:0024507","aniridia 1",2,"agreed"],["d","MONDO:0024517","SMARCB1-related schwannomatosis",2,"agreed"],["d","MONDO:0024519","renal hypodysplasia/aplasia 1",1,"graded_apart"],["d","MONDO:0024520","renal hypodysplasia/aplasia 3",1,"graded_apart"],["d","MONDO:0024522","amyloidosis, primary localized cutaneous, 1",1,"graded_apart"],["d","MONDO:0024524","dyschromatosis universalis hereditaria 1",1,"agreed"],["d","MONDO:0024525","Fanconi renotubular syndrome 1",1,"graded_apart"],["d","MONDO:0024526","Zimmermann-Laband syndrome 1",1,"single"],["d","MONDO:0024528","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",1,"agreed"],["d","MONDO:0024530","Bethlem myopathy 1A",3,"agreed"],["d","MONDO:0024531","myopathy, tubular aggregate, 1",1,"agreed"],["d","MONDO:0024533","pulmonary hypertension, primary, 1",1,"agreed"],["d","MONDO:0024534","Dowling-Degos disease 1",1,"graded_apart"],["d","MONDO:0024535","Singleton-Merten syndrome 1",1,"agreed"],["d","MONDO:0024536","glucocorticoid deficiency 1",1,"agreed"],["d","MONDO:0024537","Brown-Vialetto-van Laere syndrome 1",1,"agreed"],["d","MONDO:0024538","basal ganglia calcification, idiopathic, 1",1,"agreed"],["d","MONDO:0024540","Jervell and Lange-Nielsen syndrome 1",1,"agreed"],["d","MONDO:0024541","trichohepatoenteric syndrome 1",1,"agreed"],["d","MONDO:0024542","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",1,"agreed"],["d","MONDO:0024543","brittle cornea syndrome 1",1,"agreed"],["d","MONDO:0024544","Heimler syndrome 1",1,"graded_apart"],["d","MONDO:0024546","hypertrophic osteoarthropathy, primary, autosomal recessive, 1",1,"agreed"],["d","MONDO:0024547","pancreatic agenesis 1",1,"graded_apart"],["d","MONDO:0024548","peeling skin syndrome 1",1,"graded_apart"],["d","MONDO:0024550","frontometaphyseal dysplasia 1",1,"single"],["d","MONDO:0024551","X-linked lymphoproliferative disease due to SH2D1A deficiency",1,"agreed"],["d","MONDO:0024552","linear skin defects with multiple congenital anomalies 1",1,"graded_apart"],["d","MONDO:0024553","myopathy, lactic acidosis, and sideroblastic anemia 1",1,"graded_apart"],["d","MONDO:0024554","D-2-hydroxyglutaric aciduria 1",1,"agreed"],["d","MONDO:0024555","megalencephalic leukoencephalopathy with subcortical cysts 1",2,"agreed"],["d","MONDO:0024556","epilepsy, familial focal, with variable foci 1",1,"agreed"],["d","MONDO:0024557","ataxia-telangiectasia-like disorder 1",1,"agreed"],["d","MONDO:0024558","radioulnar synostosis with amegakaryocytic thrombocytopenia 1",1,"disputed"],["d","MONDO:0024561","vitelliform macular dystrophy 3",1,"single"],["d","MONDO:0024562","sick sinus syndrome 1",1,"single"],["d","MONDO:0024563","herpes simplex encephalitis, susceptibility to, 1",1,"graded_apart"],["d","MONDO:0024564","cerebroretinal microangiopathy with calcifications and cysts 1",1,"agreed"],["d","MONDO:0024565","ectodermal dysplasia-syndactyly syndrome 1",1,"graded_apart"],["d","MONDO:0024566","febrile seizures, familial, 11",1,"single"],["d","MONDO:0024567","hypotonia, infantile, with psychomotor retardation and characteristic facies 1",1,"agreed"],["d","MONDO:0024568","infantile liver failure syndrome 1",1,"agreed"],["d","MONDO:0024570","hyperparathyroidism 4",1,"disputed"],["d","MONDO:0024573","familial hypertrophic cardiomyopathy",23,"agreed"],["d","MONDO:0024607","congenital muscular dystrophy with cataracts and intellectual disability",1,"agreed"],["d","MONDO:0024676","childhood kidney Wilms tumor",2,"single"],["d","MONDO:0024770","autoinflammatory syndrome, familial, X-linked, Behcet-like 2",1,"agreed"],["d","MONDO:0024771","myopathy, distal, 7, adult-onset, X-linked",1,"agreed"],["d","MONDO:0024772","intellectual developmental disorder, X-linked, syndromic, Pilorge type",1,"agreed"],["d","MONDO:0024773","spermatogenic failure, X-linked, 4",1,"single"],["d","MONDO:0024777","immunodeficiency 98 with autoinflammation, X-linked",1,"disputed"],["d","MONDO:0024781","immunodeficiency 102",1,"agreed"],["d","MONDO:0025193","oculopharyngodistal myopathy",1,"ungraded"],["d","MONDO:0025351","multiple congenital anomalies-neurodevelopmental syndrome, X-linked",1,"graded_apart"],["d","MONDO:0025353","developmental and epileptic encephalopathy, 90",1,"disputed"],["d","MONDO:0025354","spermatogenic failure, X-linked, 3",1,"agreed"],["d","MONDO:0025356","azoospermia, obstructive, with nephrolithiasis",1,"single"],["d","MONDO:0025690","microcephaly, epilepsy, and diabetes syndrome 2",1,"agreed"],["d","MONDO:0025691","dystonia 30",1,"agreed"],["d","MONDO:0025699","Coffin-Siris syndrome 12",1,"graded_apart"],["d","MONDO:0025701","leukodystrophy, hypomyelinating, 22",1,"graded_apart"],["d","MONDO:0025708","megacystis-microcolon-intestinal hypoperistalsis syndrome 2",1,"graded_apart"],["d","MONDO:0025712","angioedema, hereditary, 4",1,"agreed"],["d","MONDO:0025713","angioedema, hereditary, 7",1,"agreed"],["d","MONDO:0025986","megacystis-microcolon-intestinal hypoperistalsis syndrome",1,"graded_apart"],["d","MONDO:0026404","X inactivation, familial skewed, 1",1,"single"],["d","MONDO:0026720","mitochondrial complex I deficiency, nuclear type 12",1,"graded_apart"],["d","MONDO:0026721","mitochondrial complex I deficiency, nuclear type 30",1,"agreed"],["d","MONDO:0026722","Mullegama-Klein-Martinez syndrome",1,"agreed"],["d","MONDO:0026723","intellectual developmental disorder, X-linked 108",1,"disputed"],["d","MONDO:0026724","Paganini-Miozzo syndrome",1,"agreed"],["d","MONDO:0026726","nephrotic syndrome, type 20",1,"disputed"],["d","MONDO:0026727","Shukla-Vernon syndrome",1,"disputed"],["d","MONDO:0026730","Basilicata-Akhtar syndrome",1,"agreed"],["d","MONDO:0026731","hypothyroidism, congenital, nongoitrous, 8",1,"disputed"],["d","MONDO:0026732","hypothyroidism, congenital, nongoitrous, 9",1,"disputed"],["d","MONDO:0026733","intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type",1,"graded_apart"],["d","MONDO:0026762","Wieacker-Wolff syndrome, female-restricted",1,"agreed"],["d","MONDO:0026765","congenital disorder of glycosylation, type IIr",1,"agreed"],["d","MONDO:0026767","immunodeficiency 74, COVID-19-related, X-linked",1,"graded_apart"],["d","MONDO:0026771","developmental and epileptic encephalopathy, 85, with or without midline brain defects",1,"agreed"],["d","MONDO:0026782","chondrodysplasia punctata 2, X-linked dominant",1,"single"],["d","MONDO:0027407","Kleefstra syndrome 1",1,"agreed"],["d","MONDO:0027451","autosomal recessive cutis laxa type 2D",1,"disputed"],["d","MONDO:0027462","autosomal recessive cutis laxa type 2C",1,"disputed"],["d","MONDO:0027676","congenital anomalies of kidney and urinary tract 2",1,"disputed"],["d","MONDO:0027694","amyotrophic lateral sclerosis type 23",1,"graded_apart"],["d","MONDO:0027766","generalized lipodystrophy",1,"single"],["d","MONDO:0029051","autosomal recessive nail dysplasia",1,"single"],["d","MONDO:0029130","polydactyly, postaxial, type A8",1,"disputed"],["d","MONDO:0029131","peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",1,"graded_apart"],["d","MONDO:0029132","Liddle syndrome 3",1,"agreed"],["d","MONDO:0029133","muscular dystrophy, limb-girdle, autosomal dominant 4",1,"graded_apart"],["d","MONDO:0029134","severe combined immunodeficiency due to CARMIL2 deficiency",1,"graded_apart"],["d","MONDO:0029136","muscular dystrophy, limb-girdle, autosomal recessive 23",1,"single"],["d","MONDO:0029137","hearing loss, autosomal dominant 74",1,"agreed"],["d","MONDO:0029138","developmental and epileptic encephalopathy, 67",1,"agreed"],["d","MONDO:0029140","glycosylphosphatidylinositol biosynthesis defect 18",1,"graded_apart"],["d","MONDO:0029141","Usher syndrome, type 4",1,"disputed"],["d","MONDO:0029142","hearing loss, autosomal recessive 111",1,"agreed"],["d","MONDO:0029143","intellectual developmental disorder with hypertelorism and distinctive facies",1,"agreed"],["d","MONDO:0029144","extraoral halitosis due to methanethiol oxidase deficiency",1,"disputed"],["d","MONDO:0029147","spermatogenic failure 33",1,"single"],["d","MONDO:0029148","spermatogenic failure 34",1,"single"],["d","MONDO:0029465","intellectual developmental disorder, autosomal dominant 69",1,"graded_apart"],["d","MONDO:0030004","autism, susceptibility to, 20",1,"graded_apart"],["d","MONDO:0030005","epilepsy, early-onset, with or without developmental delay",1,"agreed"],["d","MONDO:0030006","combined oxidative phosphorylation deficiency 40",1,"disputed"],["d","MONDO:0030008","combined oxidative phosphorylation deficiency 42",1,"single"],["d","MONDO:0030009","alopecia-intellectual disability syndrome 4",1,"agreed"],["d","MONDO:0030010","hypogonadotropic hypogonadism 25 with anosmia",1,"graded_apart"],["d","MONDO:0030012","Diets-Jongmans syndrome",1,"agreed"],["d","MONDO:0030013","immunodeficiency 66",1,"graded_apart"],["d","MONDO:0030014","muscular dystrophy, limb-girdle, autosomal recessive 26",1,"disputed"],["d","MONDO:0030015","bone marrow failure syndrome 6",1,"graded_apart"],["d","MONDO:0030017","combined oxidative phosphorylation deficiency 43",1,"agreed"],["d","MONDO:0030018","autoinflammation with episodic fever and lymphadenopathy",1,"graded_apart"],["d","MONDO:0030019","anauxetic dysplasia 3",1,"single"],["d","MONDO:0030020","combined oxidative phosphorylation deficiency 44",1,"graded_apart"],["d","MONDO:0030024","neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities",1,"graded_apart"],["d","MONDO:0030025","neurodevelopmental disorder with hypotonia, microcephaly, and seizures",1,"disputed"],["d","MONDO:0030026","retinal dystrophy with leukodystrophy",1,"graded_apart"],["d","MONDO:0030028","neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline",1,"graded_apart"],["d","MONDO:0030029","skeletal dysplasia, mild, with joint laxity and advanced bone age",1,"graded_apart"],["d","MONDO:0030030","Nizon-Isidor syndrome",1,"graded_apart"],["d","MONDO:0030031","lissencephaly 10",1,"agreed"],["d","MONDO:0030033","seizures, early-onset, with neurodegeneration and brain calcifications",1,"graded_apart"],["d","MONDO:0030034","epilepsy, progressive myoclonic, 11",1,"graded_apart"],["d","MONDO:0030035","leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome",1,"graded_apart"],["d","MONDO:0030036","leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome",1,"agreed"],["d","MONDO:0030037","neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures",1,"graded_apart"],["d","MONDO:0030038","hereditary glaucoma, primary closed-angle",1,"single"],["d","MONDO:0030042","proteinuria, chronic benign",1,"single"],["d","MONDO:0030043","congenital disorder of glycosylation, type iit",1,"agreed"],["d","MONDO:0030044","pseudo-TORCH syndrome 3",1,"disputed"],["d","MONDO:0030045","Liberfarb syndrome",1,"disputed"],["d","MONDO:0030046","neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity",1,"agreed"],["d","MONDO:0030047","microcephaly, developmental delay, and brittle hair syndrome",1,"graded_apart"],["d","MONDO:0030048","harderoporphyria",1,"disputed"],["d","MONDO:0030049","46,xx sex reversal 5",1,"single"],["d","MONDO:0030051","intellectual developmental disorder with autistic features and language delay, with or without seizures",1,"disputed"],["d","MONDO:0030054","developmental and epileptic encephalopathy, 86",1,"graded_apart"],["d","MONDO:0030055","neuronopathy, distal hereditary motor, autosomal recessive 8",1,"graded_apart"],["d","MONDO:0030056","Fanconi renotubular syndrome 5",1,"single"],["d","MONDO:0030057","neurodevelopmental, jaw, eye, and digital syndrome",1,"disputed"],["d","MONDO:0030058","hearing loss, autosomal dominant 77",1,"graded_apart"],["d","MONDO:0030059","developmental and epileptic encephalopathy, 87",1,"disputed"],["d","MONDO:0030060","neurodevelopmental disorder with language impairment and behavioral abnormalities",1,"agreed"],["d","MONDO:0030061","periventricular nodular heterotopia 9",1,"agreed"],["d","MONDO:0030062","arrhythmogenic right ventricular dysplasia, familial, 14",1,"graded_apart"],["d","MONDO:0030063","neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",2,"graded_apart"],["d","MONDO:0030064","episodic ataxia, type 9",1,"single"],["d","MONDO:0030065","agenesis of corpus callosum, cardiac, ocular, and genital syndrome",1,"graded_apart"],["d","MONDO:0030066","granulomatous disease, chronic, autosomal recessive, 5",1,"single"],["d","MONDO:0030067","Treacher Collins syndrome 4",1,"disputed"],["d","MONDO:0030069","hyper-IgE recurrent infection syndrome 5, autosomal recessive",1,"disputed"],["d","MONDO:0030070","heterotaxy, visceral, 9, autosomal, with male infertility",1,"agreed"],["d","MONDO:0030071","retinitis pigmentosa 89",1,"disputed"],["d","MONDO:0030072","developmental and epileptic encephalopathy, 88",1,"graded_apart"],["d","MONDO:0030073","Mitchell syndrome",1,"agreed"],["d","MONDO:0030074","spondylometaphyseal dysplasia with corneal dystrophy",1,"agreed"],["d","MONDO:0030077","vertebral, cardiac, renal, and limb defects syndrome 3",1,"disputed"],["d","MONDO:0030087","diabetes mellitus, permanent neonatal 2",1,"agreed"],["d","MONDO:0030088","diabetes mellitus, permanent neonatal 3",1,"agreed"],["d","MONDO:0030089","diabetes mellitus, permanent neonatal 4",1,"graded_apart"],["d","MONDO:0030105","galactosemia 4",1,"graded_apart"],["d","MONDO:0030118","silver-russell syndrome 4",1,"graded_apart"],["d","MONDO:0030134","oculopharyngodistal myopathy 2",1,"disputed"],["d","MONDO:0030258","pontocerebellar hypoplasia, type 14",1,"graded_apart"],["d","MONDO:0030259","pontocerebellar hypoplasia, type 15",1,"agreed"],["d","MONDO:0030260","pontocerebellar hypoplasia, type 1E",1,"agreed"],["d","MONDO:0030261","pontocerebellar hypoplasia, type 1F",1,"agreed"],["d","MONDO:0030263","leukodystrophy, hypomyelinating, 21",1,"disputed"],["d","MONDO:0030266","immunodeficiency 80 with or without congenital cardiomyopathy",1,"graded_apart"],["d","MONDO:0030270","lymphatic malformation 9",1,"single"],["d","MONDO:0030293","angioedema, hereditary, 5",1,"graded_apart"],["d","MONDO:0030294","megacystis-microcolon-intestinal hypoperistalsis syndrome 3",1,"graded_apart"],["d","MONDO:0030296","megacystis-microcolon-intestinal hypoperistalsis syndrome 4",1,"agreed"],["d","MONDO:0030298","angioedema, hereditary, 8",1,"single"],["d","MONDO:0030300","cardiomyopathy, dilated, 2D",1,"disputed"],["d","MONDO:0030302","immunodeficiency 81",1,"disputed"],["d","MONDO:0030307","spermatogenic failure 55",1,"agreed"],["d","MONDO:0030308","immunodeficiency 82 with systemic inflammation",1,"agreed"],["d","MONDO:0030309","Leber hereditary optic neuropathy, autosomal recessive",1,"disputed"],["d","MONDO:0030311","combined oxidative phosphorylation deficiency 52",1,"disputed"],["d","MONDO:0030312","spinocerebellar ataxia, autosomal recessive 29",1,"disputed"],["d","MONDO:0030313","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10",1,"disputed"],["d","MONDO:0030314","inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive",1,"agreed"],["d","MONDO:0030316","lymphatic malformation 11",1,"disputed"],["d","MONDO:0030317","cardiomyopathy, familial hypertrophic, 28",1,"agreed"],["d","MONDO:0030318","spinocerebellar ataxia, autosomal recessive 30",1,"disputed"],["d","MONDO:0030323","spinocerebellar ataxia, autosomal recessive 31",1,"disputed"],["d","MONDO:0030326","mitochondrial dna depletion syndrome 16B (neuroophthalmic type)",1,"single"],["d","MONDO:0030330","cardiomyopathy, familial restrictive, 6",1,"agreed"],["d","MONDO:0030331","Ritscher-Schinzel syndrome 4",1,"agreed"],["d","MONDO:0030332","ciliary dyskinesia, primary, 46",1,"graded_apart"],["d","MONDO:0030333","immunodeficiency 84",1,"disputed"],["d","MONDO:0030334","encephalitis, acute, infection (viral)-induced, susceptibility to, 11",1,"agreed"],["d","MONDO:0030335","diarrhea 12, with microvillus atrophy",1,"single"],["d","MONDO:0030337","cutis laxa, autosomal recessive, type 2E",1,"disputed"],["d","MONDO:0030338","anencephaly 2",1,"graded_apart"],["d","MONDO:0030339","microcephaly 28, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0030341","myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive",1,"agreed"],["d","MONDO:0030346","ciliary dyskinesia, primary, 47, and lissencephaly",1,"agreed"],["d","MONDO:0030354","facioscapulohumeral muscular dystrophy 3, digenic",1,"single"],["d","MONDO:0030356","short-rib thoracic dysplasia 21 without polydactyly",1,"single"],["d","MONDO:0030360","cholestasis, progressive familial intrahepatic, 6",1,"agreed"],["d","MONDO:0030361","Aicardi-Goutieres syndrome 8",1,"agreed"],["d","MONDO:0030362","Aicardi-Goutieres syndrome 9",1,"graded_apart"],["d","MONDO:0030366","cardiomyopathy, dilated, 2E",1,"disputed"],["d","MONDO:0030374","WHIM syndrome 2",1,"single"],["d","MONDO:0030375","neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2",1,"agreed"],["d","MONDO:0030378","combined oxidative phosphorylation deficiency 53",1,"single"],["d","MONDO:0030397","portal hypertension, noncirrhotic, 2",1,"agreed"],["d","MONDO:0030399","visceral neuropathy, familial, 2, autosomal recessive",1,"single"],["d","MONDO:0030423","congenital disorder of glycosylation, type 2v",1,"agreed"],["d","MONDO:0030428","immunodeficiency 85 and autoimmunity",1,"agreed"],["d","MONDO:0030430","spermatogenic failure 56",1,"disputed"],["d","MONDO:0030433","Charcot-Marie-Tooth disease, axonal, type 2FF",1,"disputed"],["d","MONDO:0030436","anemia, sideroblastic, 5",1,"graded_apart"],["d","MONDO:0030437","congenital disorder of glycosylation, type IIw",1,"graded_apart"],["d","MONDO:0030438","pontocerebellar hypoplasia, type 16",1,"agreed"],["d","MONDO:0030439","spermatogenic failure 57",1,"disputed"],["d","MONDO:0030440","cone-rod dystrophy 22",1,"single"],["d","MONDO:0030448","immunodeficiency 86",1,"graded_apart"],["d","MONDO:0030453","developmental and epileptic encephalopathy 97",1,"graded_apart"],["d","MONDO:0030454","Joubert syndrome 39",1,"agreed"],["d","MONDO:0030456","muscular dystrophy, limb-girdle, autosomal recessive 27",1,"agreed"],["d","MONDO:0030457","immunodeficiency 87 and autoimmunity",1,"graded_apart"],["d","MONDO:0030458","Charcot-Marie-Tooth disease, axonal, Type 2HH",1,"disputed"],["d","MONDO:0030463","spermatogenic failure 58",1,"single"],["d","MONDO:0030465","cataract 49",1,"graded_apart"],["d","MONDO:0030471","Galloway-Mowat syndrome 9",1,"single"],["d","MONDO:0030472","developmental and epileptic encephalopathy 98",1,"graded_apart"],["d","MONDO:0030473","developmental and epileptic encephalopathy 99",1,"agreed"],["d","MONDO:0030475","heterotaxy, visceral, 11, autosomal, with male infertility",1,"single"],["d","MONDO:0030476","Galloway-Mowat syndrome 10",1,"agreed"],["d","MONDO:0030480","hearing loss, autosomal recessive 119",1,"disputed"],["d","MONDO:0030483","immunodeficiency 88",1,"graded_apart"],["d","MONDO:0030484","immunodeficiency 89 and autoimmunity",1,"single"],["d","MONDO:0030487","spondylometaphyseal dysplasia, pagnamenta type",1,"single"],["d","MONDO:0030490","oocyte maturation defect 11",1,"single"],["d","MONDO:0030491","immunodeficiency 91 and hyperinflammation",1,"graded_apart"],["d","MONDO:0030492","spermatogenic failure 59",1,"single"],["d","MONDO:0030498","immunodeficiency 92",1,"graded_apart"],["d","MONDO:0030500","Loeys-Dietz syndrome 6",1,"agreed"],["d","MONDO:0030503","cholestasis, progressive familial intrahepatic, 7, with or without hearing loss",1,"agreed"],["d","MONDO:0030505","cholestasis, progressive familial intrahepatic, 8",1,"graded_apart"],["d","MONDO:0030506","ovarian dysgenesis 9",1,"graded_apart"],["d","MONDO:0030507","spermatogenic failure 61",1,"disputed"],["d","MONDO:0030508","spermatogenic failure 62",1,"agreed"],["d","MONDO:0030512","spastic paraplegia 85, autosomal recessive",1,"agreed"],["d","MONDO:0030513","dystonia 33",1,"single"],["d","MONDO:0030514","leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",1,"agreed"],["d","MONDO:0030515","spermatogenic failure 63",1,"single"],["d","MONDO:0030517","trichothiodystrophy 8, nonphotosensitive",1,"graded_apart"],["d","MONDO:0030518","trichothiodystrophy 9, nonphotosensitive",1,"agreed"],["d","MONDO:0030519","agammaglobulinemia 9, autosomal recessive",1,"agreed"],["d","MONDO:0030522","spermatogenic failure 64",1,"single"],["d","MONDO:0030523","oocyte maturation defect 12",1,"single"],["d","MONDO:0030524","mucopolysaccharidosis, type 10",1,"single"],["d","MONDO:0030525","epidermolysis bullosa simplex 2B, generalized intermediate",1,"single"],["d","MONDO:0030528","immunodeficiency 93 and hypertrophic cardiomyopathy",1,"agreed"],["d","MONDO:0030529","agammaglobulinemia 10, autosomal dominant",1,"agreed"],["d","MONDO:0030531","spermatogenic failure 65",1,"agreed"],["d","MONDO:0030533","intellectual developmental disorder, autosomal recessive 73",1,"disputed"],["d","MONDO:0030534","hypogonadotropic hypogonadism 26 with or without anosmia",1,"agreed"],["d","MONDO:0030535","epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive",1,"graded_apart"],["d","MONDO:0030537","central hypoventilation syndrome, congenital, 2, and autonomic dysfunction",1,"agreed"],["d","MONDO:0030539","central hypoventilation syndrome, congenital, 3",1,"single"],["d","MONDO:0030543","combined oxidative phosphorylation deficiency 54",1,"graded_apart"],["d","MONDO:0030553","acromesomelic dysplasia 4",1,"agreed"],["d","MONDO:0030606","Bryant-Li-Bhoj neurodevelopmental syndrome 1",1,"agreed"],["d","MONDO:0030607","Bryant-Li-Bhoj neurodevelopmental syndrome 2",1,"graded_apart"],["d","MONDO:0030608","interstitial lung disease 1",1,"graded_apart"],["d","MONDO:0030619","retinitis pigmentosa 92",1,"single"],["d","MONDO:0030634","leukoencephalopathy, hereditary diffuse, with spheroids 2",1,"single"],["d","MONDO:0030673","spastic paraplegia 86, autosomal recessive",1,"graded_apart"],["d","MONDO:0030674","Teebi hypertelorism syndrome 2",1,"graded_apart"],["d","MONDO:0030676","parkinsonism-dystonia 3, childhood-onset",1,"single"],["d","MONDO:0030677","Charcot-Marie-Tooth disease, demyelinating, IIA 1I",1,"agreed"],["d","MONDO:0030679","Noonan syndrome 14",1,"graded_apart"],["d","MONDO:0030680","cardiomyopathy, dilated, 2F",1,"graded_apart"],["d","MONDO:0030681","immunodeficiency 94 with autoinflammation and dysmorphic facies",1,"single"],["d","MONDO:0030684","hypogonadotropic hypogonadism 27 without anosmia",1,"agreed"],["d","MONDO:0030689","Charcot-Marie-Tooth disease, demyelinating, IIA 1H",1,"single"],["d","MONDO:0030690","pulmonary fibrosis and/or bone marrow failure, telomere-related, 6",1,"agreed"],["d","MONDO:0030692","immunodeficiency 95",1,"single"],["d","MONDO:0030693","immunodeficiency 96",1,"agreed"],["d","MONDO:0030695","developmental and epileptic encephalopathy 100",1,"graded_apart"],["d","MONDO:0030696","mitochondrial DNA depletion syndrome 20 (mngie type)",1,"agreed"],["d","MONDO:0030697","myopia 28, autosomal recessive",1,"disputed"],["d","MONDO:0030711","Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive",1,"single"],["d","MONDO:0030712","oculopharyngodistal myopathy 4",1,"single"],["d","MONDO:0030714","osteogenesis imperfecta, type XXII",1,"agreed"],["d","MONDO:0030716","spermatogenic failure 66",1,"single"],["d","MONDO:0030717","immunodeficiency 97 with autoinflammation",1,"disputed"],["d","MONDO:0030719","hearing loss, autosomal dominant 82",1,"agreed"],["d","MONDO:0030723","hearing loss, autosomal dominant 83",1,"single"],["d","MONDO:0030724","hearing loss, autosomal dominant 84",1,"graded_apart"],["d","MONDO:0030726","neutropenia, severe congenital, 9, autosomal dominant",1,"single"],["d","MONDO:0030727","developmental and epileptic encephalopathy 101",1,"single"],["d","MONDO:0030729","Tessadori-van Haaften neurodevelopmental syndrome 1",1,"graded_apart"],["d","MONDO:0030730","Tessadori-van Haaften neurodevelopmental syndrome 2",1,"graded_apart"],["d","MONDO:0030731","aortic aneurysm, familial thoracic 12",1,"single"],["d","MONDO:0030732","spermatogenic failure 69",1,"graded_apart"],["d","MONDO:0030733","spermatogenic failure 70",1,"agreed"],["d","MONDO:0030736","ovarian dysgenesis 10",1,"single"],["d","MONDO:0030746","epidermolysis bullosa, junctional 2A, intermediate",1,"single"],["d","MONDO:0030747","epidermolysis bullosa, junctional 2B, severe",1,"single"],["d","MONDO:0030748","epidermolysis bullosa, junctional 3A, intermediate",1,"single"],["d","MONDO:0030749","epidermolysis bullosa, junctional 3B, severe",1,"single"],["d","MONDO:0030750","epidermolysis bullosa, junctional 4, intermediate",1,"agreed"],["d","MONDO:0030756","Stuve-Wiedemann syndrome 2",1,"single"],["d","MONDO:0030768","epidermolysis bullosa, junctional 5A, intermediate",1,"single"],["d","MONDO:0030770","congenital disorder of deglycosylation 2",1,"disputed"],["d","MONDO:0030781","restrictive dermopathy 2",1,"single"],["d","MONDO:0030785","intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly",1,"agreed"],["d","MONDO:0030797","retinitis pigmentosa 93",1,"single"],["d","MONDO:0030798","immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",1,"single"],["d","MONDO:0030800","cholestasis, progressive familial intrahepatic, 9",1,"agreed"],["d","MONDO:0030801","monosomy 7 myelodysplasia and leukemia syndrome 2",1,"disputed"],["d","MONDO:0030805","spinocerebellar ataxia 49",1,"single"],["d","MONDO:0030810","cholestasis, progressive familial intrahepatic, 10",1,"single"],["d","MONDO:0030813","immunodeficiency 101 (varicella zoster virus-specific)",1,"agreed"],["d","MONDO:0030815","cholestasis, progressive familial intrahepatic, 11",1,"single"],["d","MONDO:0030818","spermatogenic failure 73",1,"single"],["d","MONDO:0030819","meckel syndrome 14",1,"agreed"],["d","MONDO:0030822","renal hypodysplasia/aplasia 4",1,"disputed"],["d","MONDO:0030827","macrothrombocytopenia, isolated, 2, autosomal dominant",1,"single"],["d","MONDO:0030835","developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy",1,"agreed"],["d","MONDO:0030837","neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",1,"graded_apart"],["d","MONDO:0030839","thyroid hormone metabolism, abnormal, 2",1,"single"],["d","MONDO:0030840","mismatch repair cancer syndrome 2",1,"agreed"],["d","MONDO:0030841","mismatch repair cancer syndrome 3",1,"agreed"],["d","MONDO:0030843","mismatch repair cancer syndrome 4",1,"agreed"],["d","MONDO:0030844","spermatogenic failure 47",1,"single"],["d","MONDO:0030846","spermatogenic failure 48",1,"disputed"],["d","MONDO:0030847","arthrogryposis, distal, type 1C",1,"graded_apart"],["d","MONDO:0030849","intellectual developmental disorder with speech delay and axonal peripheral neuropathy",1,"agreed"],["d","MONDO:0030852","neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities",1,"agreed"],["d","MONDO:0030854","combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1",1,"single"],["d","MONDO:0030855","combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2",1,"single"],["d","MONDO:0030856","developmental and epileptic encephalopathy 89",1,"disputed"],["d","MONDO:0030858","immunodeficiency 75",1,"agreed"],["d","MONDO:0030860","neuronopathy, distal hereditary motor, type 5C",1,"agreed"],["d","MONDO:0030861","osteogenesis imperfecta, type 21",1,"agreed"],["d","MONDO:0030864","Ritscher-Schinzel syndrome 3",1,"single"],["d","MONDO:0030866","neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",1,"disputed"],["d","MONDO:0030867","thrombocytopenia 7",1,"graded_apart"],["d","MONDO:0030869","spermatogenic failure 50",1,"single"],["d","MONDO:0030870","premature ovarian failure 17",1,"single"],["d","MONDO:0030871","vertebral hypersegmentation and orofacial anomalies",1,"disputed"],["d","MONDO:0030872","frontotemporal dementia and/or amyotrophic lateral sclerosis 8",1,"disputed"],["d","MONDO:0030873","cardiofacioneurodevelopmental syndrome",1,"graded_apart"],["d","MONDO:0030875","frontotemporal dementia and/or amyotrophic lateral sclerosis 5",1,"disputed"],["d","MONDO:0030876","cardioacrofacial dysplasia 1",1,"graded_apart"],["d","MONDO:0030877","cardioacrofacial dysplasia 2",1,"graded_apart"],["d","MONDO:0030878","Kaya-Barakat-Masson syndrome",1,"graded_apart"],["d","MONDO:0030880","mandibuloacral dysplasia progeroid syndrome",1,"agreed"],["d","MONDO:0030881","developmental and epileptic encephalopathy 102",1,"graded_apart"],["d","MONDO:0030885","amyotrophic lateral sclerosis 26 with or without frontotemporal dementia",1,"graded_apart"],["d","MONDO:0030886","holoprosencephaly 14",1,"disputed"],["d","MONDO:0030887","cardiomyopathy, dilated, 2G",1,"agreed"],["d","MONDO:0030890","pontocerebellar hypoplasia, IIA 17",1,"disputed"],["d","MONDO:0030891","intellectual developmental disorder, autosomal dominant 66",1,"graded_apart"],["d","MONDO:0030893","leukoencephalopathy, progressive, infantile-onset, with or without deafness",1,"agreed"],["d","MONDO:0030894","AMED syndrome, digenic",1,"disputed"],["d","MONDO:0030895","nephrotic syndrome, type 22",1,"disputed"],["d","MONDO:0030897","Lessel-Kreienkamp syndrome",1,"agreed"],["d","MONDO:0030898","immunodeficiency 76",1,"agreed"],["d","MONDO:0030899","oculocutaneous albinism type 8",1,"agreed"],["d","MONDO:0030900","intellectual developmental disorder with paroxysmal dyskinesia or seizures",1,"agreed"],["d","MONDO:0030902","mitochondrial complex I deficiency, nuclear type 36",1,"graded_apart"],["d","MONDO:0030903","Hermansky-Pudlak syndrome 11",1,"graded_apart"],["d","MONDO:0030905","hearing loss, autosomal recessive 117",1,"single"],["d","MONDO:0030907","intellectual disability, X-linked 106",1,"graded_apart"],["d","MONDO:0030908","intellectual disability, X-linked, syndromic, 35",1,"graded_apart"],["d","MONDO:0030909","intellectual disability, X-linked, syndromic, Houge type",1,"agreed"],["d","MONDO:0030910","intellectual developmental disorder, autosomal dominant 45",1,"agreed"],["d","MONDO:0030911","intellectual disability, autosomal dominant 46",1,"disputed"],["d","MONDO:0030912","intellectual disability, autosomal dominant 47",1,"graded_apart"],["d","MONDO:0030913","intellectual disability, autosomal dominant 48",1,"agreed"],["d","MONDO:0030914","Clark-Baraitser syndrome",1,"agreed"],["d","MONDO:0030915","intellectual disability, autosomal recessive 61",1,"disputed"],["d","MONDO:0030916","intellectual disability, autosomal dominant 50",1,"agreed"],["d","MONDO:0030917","intellectual disability, autosomal dominant 51",1,"agreed"],["d","MONDO:0030918","intellectual disability, autosomal dominant 52",1,"agreed"],["d","MONDO:0030919","intellectual developmental disorder, autosomal dominant 53",1,"graded_apart"],["d","MONDO:0030920","intellectual developmental disorder, autosomal dominant 54",1,"agreed"],["d","MONDO:0030921","intellectual developmental disorder, autosomal dominant 55, with seizures",1,"agreed"],["d","MONDO:0030922","intellectual disability, autosomal dominant 56",1,"agreed"],["d","MONDO:0030923","frontotemporal dementia and/or amyotrophic lateral sclerosis",1,"single"],["d","MONDO:0030924","proteasome-associated autoinflammatory syndrome 5",1,"disputed"],["d","MONDO:0030925","oocyte maturation defect 10",1,"single"],["d","MONDO:0030927","myofibrillar myopathy 11",1,"graded_apart"],["d","MONDO:0030928","microcephaly 26, primary, autosomal dominant",1,"agreed"],["d","MONDO:0030929","microcephaly 27, primary, autosomal dominant",1,"disputed"],["d","MONDO:0030930","neurodevelopmental disorder with or without early-onset generalized epilepsy",2,"agreed"],["d","MONDO:0030931","proteasome-associated autoinflammatory syndrome 4",1,"agreed"],["d","MONDO:0030933","Joubert syndrome 37",1,"agreed"],["d","MONDO:0030934","intellectual developmental disorder, autosomal dominant 64",1,"agreed"],["d","MONDO:0030935","mitochondrial complex 2 deficiency, nuclear type 2",1,"agreed"],["d","MONDO:0030936","epilepsy, progressive myoclonic, 12",1,"agreed"],["d","MONDO:0030937","mitochondrial complex 2 deficiency, nuclear type 3",1,"single"],["d","MONDO:0030938","spermatogenic failure 52",1,"single"],["d","MONDO:0030939","premature ovarian failure 18",1,"single"],["d","MONDO:0030941","erythrokeratodermia variabilis et progressiva 7",1,"graded_apart"],["d","MONDO:0030947","neuronal ceroid lipofuscinosis 15",1,"disputed"],["d","MONDO:0030953","short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",1,"graded_apart"],["d","MONDO:0030957","developmental and epileptic encephalopathy 103",1,"agreed"],["d","MONDO:0030961","Olmsted syndrome 2",1,"graded_apart"],["d","MONDO:0030962","nephrotic syndrome, type 23",1,"graded_apart"],["d","MONDO:0030963","Li-Campeau syndrome",1,"agreed"],["d","MONDO:0030964","intellectual developmental disorder, autosomal dominant 67",1,"graded_apart"],["d","MONDO:0030966","neurofacioskeletal syndrome with or without renal agenesis",1,"disputed"],["d","MONDO:0030968","intellectual developmental disorder, autosomal recessive 76",1,"agreed"],["d","MONDO:0030969","intellectual developmental disorder, autosomal dominant 68",1,"single"],["d","MONDO:0030970","immunodeficiency 106, susceptibility to viral infections",1,"agreed"],["d","MONDO:0030971","immunodeficiency 78 with autoimmunity and developmental delay",1,"graded_apart"],["d","MONDO:0030972","spermatogenic failure 74",1,"agreed"],["d","MONDO:0030973","immunodeficiency 77",1,"disputed"],["d","MONDO:0030974","mitochondrial complex 2 deficiency, nuclear type 4",1,"single"],["d","MONDO:0030975","premature ovarian failure 20",1,"disputed"],["d","MONDO:0030976","oculomotor-abducens synkinesis",1,"graded_apart"],["d","MONDO:0030977","neuronopathy, distal hereditary motor, autosomal recessive 7",1,"agreed"],["d","MONDO:0030978","ENDOVE syndrome, limb-only type",1,"single"],["d","MONDO:0030981","immunodeficiency 79",1,"graded_apart"],["d","MONDO:0030982","sulfide quinone oxidoreductase deficiency",1,"graded_apart"],["d","MONDO:0030983","Waardenburg syndrome 2F",1,"agreed"],["d","MONDO:0030985","premature ovarian failure 19",1,"disputed"],["d","MONDO:0030986","blistering, acantholytic, of oral and laryngeal mucosa",1,"graded_apart"],["d","MONDO:0030987","vertebral, cardiac, tracheoesophageal, renal, and limb defects",1,"agreed"],["d","MONDO:0030988","developmental delay with dysmorphic facies and dental anomalies",1,"single"],["d","MONDO:0030989","spermatogenic failure 53",1,"agreed"],["d","MONDO:0030991","bile acid conjugation defect 1",1,"disputed"],["d","MONDO:0030992","short stature, oligodontia, dysmorphic facies, and motor delay",1,"single"],["d","MONDO:0030993","Tessadori-Van Haaften neurodevelopmental syndrome 3",1,"agreed"],["d","MONDO:0030994","neurodevelopmental disorder with or without autism or seizures",1,"agreed"],["d","MONDO:0030995","global developmental delay with speech and behavioral abnormalities",1,"graded_apart"],["d","MONDO:0030996","bleeding disorder, platelet-type, 24",1,"graded_apart"],["d","MONDO:0030997","mitochondrial complex I deficiency, nuclear type 37",1,"disputed"],["d","MONDO:0030998","hearing loss, autosomal dominant 80",1,"disputed"],["d","MONDO:0030999","neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism",1,"disputed"],["d","MONDO:0031000","Tessadori-Van Haaften neurodevelopmental syndrome 4",1,"single"],["d","MONDO:0031001","vitreoretinopathy with phalangeal epiphyseal dysplasia",1,"single"],["d","MONDO:0031002","Baralle-Macken syndrome",1,"agreed"],["d","MONDO:0031003","hypercholanemia, familial, 2",1,"disputed"],["d","MONDO:0031006","neurodegeneration with ataxia and late-onset optic atrophy",1,"disputed"],["d","MONDO:0031007","spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis",1,"single"],["d","MONDO:0031008","nephrotic syndrome, type 24",1,"agreed"],["d","MONDO:0031009","Glanzmann thrombasthenia 2",1,"agreed"],["d","MONDO:0031010","odontochondrodysplasia 2 with hearing loss and diabetes",1,"graded_apart"],["d","MONDO:0031011","neurodevelopmental disorder with dysmorphic facies and variable seizures",1,"agreed"],["d","MONDO:0031019","spastic paraplegia 87, autosomal recessive",1,"disputed"],["d","MONDO:0031021","developmental and epileptic encephalopathy 104",1,"agreed"],["d","MONDO:0031028","developmental and epileptic encephalopathy 105 with hypopituitarism",1,"disputed"],["d","MONDO:0031030","immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection",1,"single"],["d","MONDO:0031037","famililal cerebral cavernous malformations",3,"ungraded"],["d","MONDO:0031043","lymphatic malformation 12",1,"graded_apart"],["d","MONDO:0031045","arthrogryposis, distal, IIa 11",1,"agreed"],["d","MONDO:0031047","Stickler syndrome, type 6",1,"agreed"],["d","MONDO:0031052","developmental and epileptic encephalopathy 106",1,"disputed"],["d","MONDO:0031054","ciliary dyskinesia, primary, 48, without situs inversus",1,"graded_apart"],["d","MONDO:0031055","developmental and epileptic encephalopathy 107",1,"agreed"],["d","MONDO:0031060","microcephaly 29, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0031061","nephrotic syndrome, IIa 26",1,"graded_apart"],["d","MONDO:0031062","polycystic kidney disease 7",1,"agreed"],["d","MONDO:0031068","Charcot-Marie-Tooth disease, axonal, IIa 2II",1,"agreed"],["d","MONDO:0031071","Diamond-Blackfan anemia 21",1,"disputed"],["d","MONDO:0031077","spermatogenic failure 76",1,"single"],["d","MONDO:0031083","spermatogenic failure 77",1,"graded_apart"],["d","MONDO:0031084","amelogenesis imperfecta, IIa 1K",1,"agreed"],["d","MONDO:0031115","dyskinesia with orofacial involvement",1,"single"],["d","MONDO:0031199","inherited interstitial lung disease",1,"single"],["d","MONDO:0031280","Stuve-Wiedemann syndrome",1,"single"],["d","MONDO:0031332","Glanzmann thrombasthenia 1",1,"agreed"],["d","MONDO:0031386","cardioacrofacial dysplasia",1,"single"],["d","MONDO:0031446","hypercholanemia, familial 1",2,"agreed"],["d","MONDO:0031447","macrothrombocytopenia, isolated",1,"graded_apart"],["d","MONDO:0031481","microcephaly, epilepsy, and diabetes syndrome 1",1,"agreed"],["d","MONDO:0031632","developmental delay with short stature, dysmorphic facial features, and sparse hair",1,"single"],["d","MONDO:0032485","intellectual developmental disorder 61",1,"agreed"],["d","MONDO:0032526","spinocerebellar ataxia 48",1,"agreed"],["d","MONDO:0032564","hennekam lymphangiectasia-lymphedema syndrome 3",1,"graded_apart"],["d","MONDO:0032565","ophthalmoplegia, external, with rib and vertebral anomalies",1,"disputed"],["d","MONDO:0032566","squalene synthase deficiency",1,"disputed"],["d","MONDO:0032567","isolated growth hormone deficiency, type 4",1,"agreed"],["d","MONDO:0032568","intellectual developmental disorder with macrocephaly, seizures, and speech delay",1,"graded_apart"],["d","MONDO:0032569","isolated growth hormone deficiency, type 5",1,"graded_apart"],["d","MONDO:0032570","Joubert syndrome 35",1,"agreed"],["d","MONDO:0032571","spondyloepimetaphyseal dysplasia, Krakow type",1,"graded_apart"],["d","MONDO:0032572","cardiac, facial, and digital anomalies with developmental delay",1,"agreed"],["d","MONDO:0032573","bone marrow failure syndrome 5",1,"single"],["d","MONDO:0032574","osteochondrodysplasia, brachydactyly, and overlapping malformed digits",1,"disputed"],["d","MONDO:0032575","diarrhea 9",1,"disputed"],["d","MONDO:0032577","retinitis pigmentosa 83",1,"disputed"],["d","MONDO:0032578","cortical dysplasia, complex, with other brain malformations 9",1,"graded_apart"],["d","MONDO:0032579","warburg-cinotti syndrome",1,"disputed"],["d","MONDO:0032580","nephrotic syndrome, type 17",1,"graded_apart"],["d","MONDO:0032581","nephrotic syndrome, type 18",1,"disputed"],["d","MONDO:0032582","nephrotic syndrome, type 19",1,"disputed"],["d","MONDO:0032583","microcephaly 24, primary, autosomal recessive",1,"agreed"],["d","MONDO:0032584","ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis",1,"graded_apart"],["d","MONDO:0032586","diarrhea 10, protein-losing enteropathy type",1,"graded_apart"],["d","MONDO:0032588","periventricular nodular heterotopia 8",1,"graded_apart"],["d","MONDO:0032590","ovarian dysgenesis 8",1,"graded_apart"],["d","MONDO:0032591","hyperparathyroidism, transient neonatal",1,"graded_apart"],["d","MONDO:0032592","cardiomyopathy, dilated, 2c",1,"graded_apart"],["d","MONDO:0032594","intellectual developmental disorder and retinitis pigmentosa; IDDRP",1,"graded_apart"],["d","MONDO:0032596","myasthenic syndrome, congenital, 23, presynaptic",1,"agreed"],["d","MONDO:0032597","myasthenic syndrome, congenital, 24, presynaptic",1,"disputed"],["d","MONDO:0032598","developmental and epileptic encephalopathy, 68",1,"single"],["d","MONDO:0032599","immunodeficiency 15a",1,"graded_apart"],["d","MONDO:0032600","Snijders Blok-Campeau syndrome",1,"agreed"],["d","MONDO:0032601","inflammatory bowel disease, immunodeficiency, and encephalopathy",1,"disputed"],["d","MONDO:0032603","polydactyly, postaxial, type A9",1,"graded_apart"],["d","MONDO:0032604","retinitis pigmentosa 84",1,"disputed"],["d","MONDO:0032605","intellectual disability, autosomal recessive 66",1,"agreed"],["d","MONDO:0032606","mitochondrial complex I deficiency, nuclear type 2",1,"agreed"],["d","MONDO:0032607","vertebral anomalies and variable endocrine and T-cell dysfunction",1,"disputed"],["d","MONDO:0032608","mitochondrial complex I deficiency, nuclear type 3",2,"agreed"],["d","MONDO:0032609","mitochondrial complex I deficiency, nuclear type 4",1,"agreed"],["d","MONDO:0032610","mitochondrial complex I deficiency, nuclear type 5",1,"agreed"],["d","MONDO:0032611","mitochondrial complex I deficiency, nuclear type 6",1,"agreed"],["d","MONDO:0032612","mitochondrial complex I deficiency, nuclear type 7",1,"graded_apart"],["d","MONDO:0032613","mitochondrial complex I deficiency, nuclear type 8",1,"agreed"],["d","MONDO:0032614","epidermodysplasia verruciformis, susceptibility to, 2",1,"agreed"],["d","MONDO:0032615","mitochondrial complex I deficiency, nuclear type 9",1,"agreed"],["d","MONDO:0032616","mitochondrial complex I deficiency, nuclear type 10",1,"graded_apart"],["d","MONDO:0032617","mitochondrial complex I deficiency, nuclear type 11",1,"disputed"],["d","MONDO:0032618","mitochondrial complex I deficiency, nuclear type 13",1,"agreed"],["d","MONDO:0032619","mitochondrial complex I deficiency, nuclear type 14",1,"graded_apart"],["d","MONDO:0032620","mitochondrial complex I deficiency, nuclear type 15",1,"agreed"],["d","MONDO:0032621","mitochondrial complex I deficiency, nuclear type 16",1,"agreed"],["d","MONDO:0032622","mitochondrial complex I deficiency, nuclear type 17",1,"graded_apart"],["d","MONDO:0032623","mitochondrial complex I deficiency, nuclear type 18",1,"graded_apart"],["d","MONDO:0032624","mitochondrial complex I deficiency, nuclear type 19",1,"agreed"],["d","MONDO:0032625","mitochondrial complex I deficiency, nuclear type 21",1,"agreed"],["d","MONDO:0032626","mitochondrial complex I deficiency, nuclear type 22",1,"agreed"],["d","MONDO:0032627","mitochondrial complex I deficiency, nuclear type 23",1,"graded_apart"],["d","MONDO:0032628","mitochondrial complex I deficiency, nuclear type 24",1,"graded_apart"],["d","MONDO:0032629","mitochondrial complex I deficiency, nuclear type 25",1,"graded_apart"],["d","MONDO:0032630","mitochondrial complex I deficiency, nuclear type 26",1,"disputed"],["d","MONDO:0032632","mitochondrial complex I deficiency, nuclear type 28",1,"disputed"],["d","MONDO:0032633","mitochondrial complex I deficiency, nuclear type 29",1,"graded_apart"],["d","MONDO:0032634","mitochondrial complex I deficiency, nuclear type 31",1,"graded_apart"],["d","MONDO:0032635","mitochondrial complex I deficiency, nuclear type 32",1,"disputed"],["d","MONDO:0032636","mitochondrial complex I deficiency, nuclear type 33",1,"graded_apart"],["d","MONDO:0032637","ciliary dyskinesia, primary, 39",1,"graded_apart"],["d","MONDO:0032639","hearing loss, autosomal recessive 112",1,"agreed"],["d","MONDO:0032641","mirror movements 4",1,"disputed"],["d","MONDO:0032642","arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development",1,"disputed"],["d","MONDO:0032643","pontocerebellar hypoplasia, type 12",1,"disputed"],["d","MONDO:0032644","epidermodysplasia verruciformis, susceptibility to, 3",1,"agreed"],["d","MONDO:0032645","trichohepatoneurodevelopmental syndrome",1,"agreed"],["d","MONDO:0032646","congenital anomalies of kidney and urinary tract 3",1,"single"],["d","MONDO:0032648","mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",1,"graded_apart"],["d","MONDO:0032649","hypotrichosis 14",1,"graded_apart"],["d","MONDO:0032650","neurodegeneration, childhood-onset, with cerebellar atrophy",1,"agreed"],["d","MONDO:0032651","fibrosis, neurodegeneration, and cerebral angiomatosis",1,"disputed"],["d","MONDO:0032653","cardiac-urogenital syndrome",1,"agreed"],["d","MONDO:0032654","hyper-IgE recurrent infection syndrome 3, autosomal recessive",1,"agreed"],["d","MONDO:0032655","visual impairment and progressive phthisis bulbi",1,"agreed"],["d","MONDO:0032656","microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum",1,"agreed"],["d","MONDO:0032657","developmental and epileptic encephalopathy, 69",1,"agreed"],["d","MONDO:0032658","macrocephaly, acquired, with impaired intellectual development",1,"graded_apart"],["d","MONDO:0032659","autoinflammatory disease, familial, Behcet-like-3",1,"disputed"],["d","MONDO:0032660","spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant",1,"single"],["d","MONDO:0032661","neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",1,"graded_apart"],["d","MONDO:0032662","intellectual developmental disorder, autosomal recessive 67",1,"disputed"],["d","MONDO:0032663","developmental and epileptic encephalopathy, 70",1,"agreed"],["d","MONDO:0032664","ciliary dyskinesia, primary, 40",1,"graded_apart"],["d","MONDO:0032665","intellectual developmental disorder, autosomal recessive 68",1,"disputed"],["d","MONDO:0032666","epidermodysplasia verruciformis, susceptibility to, 4",1,"disputed"],["d","MONDO:0032667","epidermodysplasia verruciformis, susceptibility to, 5",1,"single"],["d","MONDO:0032668","Diamond-Blackfan anemia 18",1,"graded_apart"],["d","MONDO:0032669","Diamond-Blackfan anemia 19",1,"agreed"],["d","MONDO:0032670","Diamond-Blackfan anemia 20",1,"agreed"],["d","MONDO:0032672","intellectual developmental disorder with cardiac defects and dysmorphic facies",1,"graded_apart"],["d","MONDO:0032673","basal ganglia calcification, idiopathic, 7, autosomal recessive",1,"agreed"],["d","MONDO:0032675","myasthenic syndrome, congenital, 25, presynaptic",1,"agreed"],["d","MONDO:0032677","lissencephaly 9 with complex brainstem malformation",1,"graded_apart"],["d","MONDO:0032678","developmental and epileptic encephalopathy, 71",1,"disputed"],["d","MONDO:0032680","global developmental delay with or without impaired intellectual development",2,"graded_apart"],["d","MONDO:0032681","encephalopathy, progressive, early-onset, with episodic rhabdomyolysis",1,"disputed"],["d","MONDO:0032684","intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency",1,"agreed"],["d","MONDO:0032685","infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",1,"disputed"],["d","MONDO:0032686","spermatogenic failure 35",1,"single"],["d","MONDO:0032687","intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",1,"graded_apart"],["d","MONDO:0032688","polymicrogyria with or without vascular-type Ehlers-Danlos syndrome",1,"single"],["d","MONDO:0032689","retinitis pigmentosa 85",1,"disputed"],["d","MONDO:0032690","microcephaly, growth deficiency, seizures, and brain malformations",1,"graded_apart"],["d","MONDO:0032691","Galloway-Mowat syndrome 6",1,"disputed"],["d","MONDO:0032692","Galloway-Mowat syndrome 7",1,"disputed"],["d","MONDO:0032693","Galloway-Mowat syndrome 8",1,"disputed"],["d","MONDO:0032696","oocyte maturation defect 6",1,"agreed"],["d","MONDO:0032697","Houge-Janssens syndrome 3",1,"graded_apart"],["d","MONDO:0032698","neurodevelopmental disorder with central and peripheral motor dysfunction",1,"graded_apart"],["d","MONDO:0032699","epilepsy, idiopathic generalized, susceptibility to, 15",1,"agreed"],["d","MONDO:0032702","Coffin-Siris syndrome 8",1,"agreed"],["d","MONDO:0032703","short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis",1,"graded_apart"],["d","MONDO:0032705","neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination",1,"agreed"],["d","MONDO:0032706","spinocerebellar ataxia, autosomal recessive 27",1,"disputed"],["d","MONDO:0032707","turnpenny-fry syndrome",1,"disputed"],["d","MONDO:0032710","developmental and epileptic encephalopathy, 72",1,"disputed"],["d","MONDO:0032712","combined oxidative phosphorylation deficiency 38",1,"graded_apart"],["d","MONDO:0032714","facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome",1,"graded_apart"],["d","MONDO:0032715","intellectual developmental disorder, autosomal recessive 69",1,"disputed"],["d","MONDO:0032716","leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate",1,"disputed"],["d","MONDO:0032717","amelogenesis imperfecta, type 3C",1,"graded_apart"],["d","MONDO:0032721","spondyloepiphyseal dysplasia, kondo-fu type",1,"graded_apart"],["d","MONDO:0032723","immunodeficiency 60",1,"disputed"],["d","MONDO:0032724","spondyloepimetaphyseal dysplasia with joint laxity, type 3",1,"agreed"],["d","MONDO:0032725","developmental and epileptic encephalopathy, 74",1,"agreed"],["d","MONDO:0032726","combined oxidative phosphorylation deficiency 39",1,"disputed"],["d","MONDO:0032728","Charcot-Marie-Tooth disease, axonal, type 2EE",1,"agreed"],["d","MONDO:0032729","intellectual developmental disorder, autosomal recessive 70",1,"graded_apart"],["d","MONDO:0032730","leukodystrophy, hypomyelinating, 18",1,"graded_apart"],["d","MONDO:0032732","hearing loss, autosomal recessive 113",1,"single"],["d","MONDO:0032733","global developmental delay, progressive ataxia, and elevated glutamine",1,"agreed"],["d","MONDO:0032735","cataract 48",1,"agreed"],["d","MONDO:0032736","metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression",1,"graded_apart"],["d","MONDO:0032737","spastic paraplegia 80, autosomal dominant",1,"agreed"],["d","MONDO:0032738","gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy",1,"disputed"],["d","MONDO:0032739","spermatogenic failure 36",1,"single"],["d","MONDO:0032740","hearing loss, autosomal recessive 100",1,"graded_apart"],["d","MONDO:0032741","neurodevelopmental disorder with impaired speech and hyperkinetic movements",1,"graded_apart"],["d","MONDO:0032742","encephalopathy, acute, infection-induced, susceptibility to, 9",1,"disputed"],["d","MONDO:0032744","spermatogenic failure 37",1,"single"],["d","MONDO:0032745","developmental delay with variable intellectual impairment and behavioral abnormalities",1,"agreed"],["d","MONDO:0032746","hydatidiform mole, recurrent, 3",1,"single"],["d","MONDO:0032747","hydatidiform mole, recurrent, 4",1,"single"],["d","MONDO:0032748","spermatogenic failure 38",1,"agreed"],["d","MONDO:0032749","hearing loss, autosomal recessive 94",1,"single"],["d","MONDO:0032750","arthrogryposis, distal, type 2B2",1,"graded_apart"],["d","MONDO:0032752","developmental and epileptic encephalopathy, 75",1,"graded_apart"],["d","MONDO:0032753","spastic ataxia 9, autosomal recessive",1,"single"],["d","MONDO:0032755","neurodevelopmental disorder with or without variable brain abnormalities; NEDBA",1,"agreed"],["d","MONDO:0032756","long QT syndrome 8",1,"single"],["d","MONDO:0032757","ciliary dyskinesia, primary, 41",1,"disputed"],["d","MONDO:0032758","neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia",1,"graded_apart"],["d","MONDO:0032759","intellectual developmental disorder with short stature and variable skeletal anomalies",1,"disputed"],["d","MONDO:0032760","developmental delay with or without dysmorphic facies and autism",1,"graded_apart"],["d","MONDO:0032761","hearing loss, autosomal recessive 114",1,"agreed"],["d","MONDO:0032762","hearing loss, autosomal recessive 115",1,"graded_apart"],["d","MONDO:0032763","immunodeficiency 62",1,"graded_apart"],["d","MONDO:0032764","Khan-Khan-Katsanis syndrome",1,"disputed"],["d","MONDO:0032765","bleeding disorder, platelet-type, 22",1,"graded_apart"],["d","MONDO:0032766","hypoalphalipoproteinemia, primary, 2",1,"agreed"],["d","MONDO:0032767","pheochromocytoma/paraganglioma syndrome 6",1,"agreed"],["d","MONDO:0032768","developmental and epileptic encephalopathy, 76",1,"agreed"],["d","MONDO:0032770","intellectual developmental disorder with severe speech and ambulation defects",1,"disputed"],["d","MONDO:0032771","pheochromocytoma/paraganglioma syndrome 7",1,"agreed"],["d","MONDO:0032772","brain abnormalities, neurodegeneration, and dysosteosclerosis",1,"agreed"],["d","MONDO:0032774","cerebellar, ocular, craniofacial, and genital syndrome",1,"disputed"],["d","MONDO:0032775","neurodevelopmental disorder with seizures and speech and walking impairment",1,"disputed"],["d","MONDO:0032776","hearing loss, autosomal recessive 99",1,"disputed"],["d","MONDO:0032777","generalized epilepsy with febrile seizures plus, type 10",1,"agreed"],["d","MONDO:0032778","arthrogryposis multiplex congenita 3, myogenic type",1,"graded_apart"],["d","MONDO:0032779","neurodevelopmental disorder with microcephaly and structural brain anomalies",1,"disputed"],["d","MONDO:0032780","hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities",1,"graded_apart"],["d","MONDO:0032781","congenital hypotonia, epilepsy, developmental delay, and digital anomalies",1,"graded_apart"],["d","MONDO:0032782","immunodeficiency 63 with lymphoproliferation and autoimmunity",1,"graded_apart"],["d","MONDO:0032783","aortic valve disease 3",1,"disputed"],["d","MONDO:0032784","neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements",1,"disputed"],["d","MONDO:0032785","polydactyly, postaxial, type a10",1,"disputed"],["d","MONDO:0032786","Noonan syndrome 11",1,"graded_apart"],["d","MONDO:0032787","holoprosencephaly 12 with or without pancreatic agenesis",1,"disputed"],["d","MONDO:0032788","cerebellar atrophy with seizures and variable developmental delay",1,"agreed"],["d","MONDO:0032789","intellectual developmental disorder, autosomal recessive 71",1,"disputed"],["d","MONDO:0032790","neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities",1,"agreed"],["d","MONDO:0032791","Coffin-Siris syndrome 10",1,"graded_apart"],["d","MONDO:0032792","neuropathy, hereditary motor and sensory, type VIc, with optic atrophy",1,"agreed"],["d","MONDO:0032793","O'Donnell-Luria-Rodan syndrome",1,"graded_apart"],["d","MONDO:0032794","Leber congenital amaurosis 19",1,"disputed"],["d","MONDO:0032795","intellectual developmental disorder 59",1,"disputed"],["d","MONDO:0032796","hyper-IgE recurrent infection syndrome 4, autosomal recessive",1,"agreed"],["d","MONDO:0032797","myopathy, congenital, with tremor",1,"graded_apart"],["d","MONDO:0032798","ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features",1,"disputed"],["d","MONDO:0032799","mitochondrial DNA depletion syndrome 16 (hepatic type)",1,"graded_apart"],["d","MONDO:0032800","robinow syndrome, autosomal recessive 2",1,"graded_apart"],["d","MONDO:0032801","erythrokeratodermia variabilis et progressiva 6",1,"disputed"],["d","MONDO:0032802","hearing loss, autosomal dominant 37",1,"graded_apart"],["d","MONDO:0032803","immunodeficiency 64",1,"agreed"],["d","MONDO:0032804","ectodermal dysplasia 15, hypohidrotic/hair type",1,"disputed"],["d","MONDO:0032805","hypopigmentation, organomegaly, and delayed myelination and development",1,"disputed"],["d","MONDO:0032806","trichothiodystrophy 7, nonphotosensitive",1,"agreed"],["d","MONDO:0032807","neurodevelopmental disorder with visual defects and brain anomalies",1,"graded_apart"],["d","MONDO:0032808","developmental and epileptic encephalopathy, 77",1,"graded_apart"],["d","MONDO:0032809","hepatitis, fulminant viral, susceptibility to",1,"agreed"],["d","MONDO:0032810","oocyte maturation defect 7",1,"agreed"],["d","MONDO:0032811","night blindness, congenital stationary, type1i",1,"single"],["d","MONDO:0032812","developmental and epileptic encephalopathy, 78",1,"graded_apart"],["d","MONDO:0032813","developmental and epileptic encephalopathy, 79",1,"graded_apart"],["d","MONDO:0032814","microangiopathy and leukoencephalopathy, pontine, autosomal dominant",1,"single"],["d","MONDO:0032815","mitochondrial DNA depletion syndrome 17",1,"disputed"],["d","MONDO:0032816","neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",1,"single"],["d","MONDO:0032817","neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",1,"graded_apart"],["d","MONDO:0032818","neurodevelopmental disorder with cerebellar hypoplasia and spasticity",1,"agreed"],["d","MONDO:0032819","hypothyroidism, congenital, nongoitrous, 7",1,"agreed"],["d","MONDO:0032820","neurodevelopmental disorder with structural brain anomalies and dysmorphic facies",1,"disputed"],["d","MONDO:0032821","myopathy, congenital, progressive, with scoliosis",1,"disputed"],["d","MONDO:0032822","developmental and epileptic encephalopathy, 80",1,"graded_apart"],["d","MONDO:0032823","intellectual developmental disorder 60 with seizures",1,"graded_apart"],["d","MONDO:0032824","glycosylphosphatidylinositol biosynthesis defect 21",1,"disputed"],["d","MONDO:0032826","nephrotic syndrome, type 21",1,"agreed"],["d","MONDO:0032828","spastic tetraplegia and axial hypotonia, progressive",1,"disputed"],["d","MONDO:0032829","neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities",1,"graded_apart"],["d","MONDO:0032830","snijders blok-fisher syndrome",1,"agreed"],["d","MONDO:0032831","pontocerebellar hypoplasia, type 13",2,"graded_apart"],["d","MONDO:0032832","intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies",1,"agreed"],["d","MONDO:0032833","lower urinary tract obstruction, congenital",1,"graded_apart"],["d","MONDO:0032834","retinitis pigmentosa 86",1,"graded_apart"],["d","MONDO:0032835","spondyloepiphyseal dysplasia, nishimura type",1,"disputed"],["d","MONDO:0032836","Weiss-Kruszka syndrome",1,"graded_apart"],["d","MONDO:0032837","abdominal obesity-metabolic syndrome 4",1,"agreed"],["d","MONDO:0032838","neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies",1,"graded_apart"],["d","MONDO:0032839","noonan syndrome 12",1,"graded_apart"],["d","MONDO:0032841","Usher syndrome, type 1M",1,"agreed"],["d","MONDO:0032842","Siddiqi syndrome",1,"agreed"],["d","MONDO:0032844","infantile liver failure syndrome 3",1,"disputed"],["d","MONDO:0032845","spermatogenic failure 39",1,"agreed"],["d","MONDO:0032846","osteogenesis imperfecta, type 20",1,"agreed"],["d","MONDO:0032848","immunodeficiency 65, susceptibility to viral infections",1,"graded_apart"],["d","MONDO:0032849","neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies",1,"graded_apart"],["d","MONDO:0032850","neurooculocardiogenitourinary syndrome",1,"disputed"],["d","MONDO:0032851","intellectual developmental disorder with impaired language and dysmorphic facies",1,"agreed"],["d","MONDO:0032852","myopathy, congenital, with structured cores and z-line abnormalities",1,"graded_apart"],["d","MONDO:0032853","myopathy, distal, 6, adult-onset, autosomal dominant",1,"agreed"],["d","MONDO:0032854","Zimmermann-Laband syndrome 3",1,"graded_apart"],["d","MONDO:0032855","neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies",1,"graded_apart"],["d","MONDO:0032858","developmental and epileptic encephalopathy, 81",1,"disputed"],["d","MONDO:0032859","spermatogenic failure 40",1,"single"],["d","MONDO:0032860","intellectual developmental disorder, autosomal recessive 72",1,"graded_apart"],["d","MONDO:0032862","hydrocephalus, congenital communicating, 1",1,"graded_apart"],["d","MONDO:0032864","intellectual developmental disorder with speech delay, autism, and dysmorphic facies",1,"graded_apart"],["d","MONDO:0032865","pulmonary fibrosis and/or bone marrow failure, telomere-related, 5",1,"graded_apart"],["d","MONDO:0032866","cortical dysplasia, complex, with other brain malformations 10",1,"graded_apart"],["d","MONDO:0032867","pancreatic cancer, susceptibility to, 5",1,"single"],["d","MONDO:0032868","lessel-kubisch syndrome",1,"graded_apart"],["d","MONDO:0032869","mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6",1,"single"],["d","MONDO:0032870","intellectual developmental disorder with short stature and behavioral abnormalities",1,"disputed"],["d","MONDO:0032871","leukodystrophy, hypomyelinating, 19, transient infantile",1,"disputed"],["d","MONDO:0032872","ciliary dyskinesia, primary, 42",1,"graded_apart"],["d","MONDO:0032873","retinitis pigmentosa 87 with choroidal involvement",1,"disputed"],["d","MONDO:0032874","ciliary dyskinesia, primary, 43",1,"graded_apart"],["d","MONDO:0032875","short stature and microcephaly with genital anomalies",1,"single"],["d","MONDO:0032876","neurodevelopmental disorder with absent language and variable seizures",1,"graded_apart"],["d","MONDO:0032877","neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures",1,"graded_apart"],["d","MONDO:0032878","neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia",1,"graded_apart"],["d","MONDO:0032879","megabladder, congenital",1,"disputed"],["d","MONDO:0032880","developmental and epileptic encephalopathy, 82",1,"disputed"],["d","MONDO:0032881","premature ovarian failure 16",1,"disputed"],["d","MONDO:0032882","Heyn-Sproul-Jackson syndrome",1,"disputed"],["d","MONDO:0032883","intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures",1,"graded_apart"],["d","MONDO:0032884","ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies",1,"single"],["d","MONDO:0032885","spondyloepimetaphyseal dysplasia, Isidor-Toutain type",1,"disputed"],["d","MONDO:0032886","Liang-Wang syndrome",1,"single"],["d","MONDO:0032887","neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity",1,"graded_apart"],["d","MONDO:0032888","neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies",1,"disputed"],["d","MONDO:0032889","Poirier-Bienvenu neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0032890","neuromuscular disease and ocular or auditory anomalies with or without seizures",1,"disputed"],["d","MONDO:0032891","aneurysm, intracranial berry, 12",1,"disputed"],["d","MONDO:0032892","structural brain anomalies with impaired intellectual development and craniosynostosis",1,"disputed"],["d","MONDO:0032893","pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",1,"disputed"],["d","MONDO:0032894","neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy",1,"disputed"],["d","MONDO:0032895","developmental and epileptic encephalopathy, 83",1,"graded_apart"],["d","MONDO:0032896","spermatogenic failure 42",1,"single"],["d","MONDO:0032897","intellectual developmental disorder with hypotonia and behavioral abnormalities",1,"graded_apart"],["d","MONDO:0032898","spermatogenic failure 43",1,"agreed"],["d","MONDO:0032899","neutropenia, severe congenital, 8, autosomal dominant",1,"agreed"],["d","MONDO:0032900","neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements",1,"graded_apart"],["d","MONDO:0032901","Catifa syndrome",1,"graded_apart"],["d","MONDO:0032902","Joubert syndrome 36",1,"graded_apart"],["d","MONDO:0032903","arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",1,"graded_apart"],["d","MONDO:0032904","corneal dystrophy, Meesmann, 2",1,"agreed"],["d","MONDO:0032905","spastic paraplegia 81, autosomal recessive",1,"single"],["d","MONDO:0032906","spastic paraplegia 82, autosomal recessive",1,"graded_apart"],["d","MONDO:0032907","lymphatic malformation 8",1,"single"],["d","MONDO:0032908","CEBALID syndrome",1,"agreed"],["d","MONDO:0032909","mitochondrial complex III deficiency, nuclear type 10",1,"disputed"],["d","MONDO:0032910","mitochondrial complex I deficiency, nuclear type 34",1,"graded_apart"],["d","MONDO:0032911","hearing loss, autosomal dominant 75",1,"agreed"],["d","MONDO:0032912","Coffin-Siris syndrome 11",1,"graded_apart"],["d","MONDO:0032913","congenital heart defects, multiple types, 7",1,"agreed"],["d","MONDO:0032914","ciliary dyskinesia, primary, 44",1,"disputed"],["d","MONDO:0032915","long QT syndrome 16",1,"agreed"],["d","MONDO:0032916","Imagawa-Matsumoto syndrome",1,"graded_apart"],["d","MONDO:0032917","hearing loss, autosomal dominant 76",1,"graded_apart"],["d","MONDO:0032918","developmental and epileptic encephalopathy, 84",1,"agreed"],["d","MONDO:0032919","intellectual developmental disorder 62",1,"agreed"],["d","MONDO:0032920","juvenile arthritis due to defect in LACC1",1,"disputed"],["d","MONDO:0032921","neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation",1,"graded_apart"],["d","MONDO:0032922","Beck-Fahrner syndrome",1,"graded_apart"],["d","MONDO:0032923","spinocerebellar ataxia, autosomal recessive 28",1,"disputed"],["d","MONDO:0032924","ciliary dyskinesia, primary, 45",1,"graded_apart"],["d","MONDO:0032926","sandestig-stefanova syndrome",1,"graded_apart"],["d","MONDO:0032927","triokinase and FMN cyclase deficiency syndrome",1,"agreed"],["d","MONDO:0032928","T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant",1,"graded_apart"],["d","MONDO:0032930","intellectual developmental disorder with poor growth and with or without seizures or ataxia",1,"graded_apart"],["d","MONDO:0032931","pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",2,"graded_apart"],["d","MONDO:0032932","mitochondrial DNA depletion syndrome 18",1,"graded_apart"],["d","MONDO:0032934","genitourinary and/or brain malformation syndrome",1,"agreed"],["d","MONDO:0032935","rhizomelic limb shortening with dysmorphic features",1,"graded_apart"],["d","MONDO:0032936","myopathy, congenital, with respiratory insufficiency and bone fractures",1,"single"],["d","MONDO:0032937","myopathy, congenital proximal, with minicore lesions",1,"disputed"],["d","MONDO:0032938","basal ganglia calcification, idiopathic, 8, autosomal recessive",1,"agreed"],["d","MONDO:0032939","intellectual developmental disorder, autosomal dominant 63, with macrocephaly",1,"graded_apart"],["d","MONDO:0032940","retinitis pigmentosa 88",1,"disputed"],["d","MONDO:0032941","myopia 27",1,"single"],["d","MONDO:0032942","neurodevelopmental disorder with microcephaly and dysmorphic facies",2,"graded_apart"],["d","MONDO:0032943","neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies",1,"agreed"],["d","MONDO:0033004","polycystic kidney disease 4",1,"agreed"],["d","MONDO:0033005","Galloway-Mowat syndrome 1",1,"agreed"],["d","MONDO:0033006","Galloway-Mowat syndrome 2, X-linked",1,"disputed"],["d","MONDO:0033007","Galloway-Mowat syndrome 3",1,"agreed"],["d","MONDO:0033008","Galloway-Mowat syndrome 4",1,"disputed"],["d","MONDO:0033009","Galloway-Mowat syndrome 5",1,"disputed"],["d","MONDO:0033010","erythrokeratodermia variabilis et progressiva 1",1,"graded_apart"],["d","MONDO:0033012","erythrokeratodermia variabilis et progressiva 2",1,"disputed"],["d","MONDO:0033013","erythrokeratodermia variabilis et progressiva 3",1,"disputed"],["d","MONDO:0033014","erythrokeratodermia variabilis et progressiva 4",1,"disputed"],["d","MONDO:0033015","erythrokeratodermia variabilis et progressiva 5",1,"single"],["d","MONDO:0033043","spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",1,"agreed"],["d","MONDO:0033044","Meckel syndrome 13",1,"single"],["d","MONDO:0033045","orofaciodigital syndrome 16",1,"single"],["d","MONDO:0033046","Meier-Gorlin syndrome 8",1,"agreed"],["d","MONDO:0033047","Perrault syndrome 6",1,"graded_apart"],["d","MONDO:0033091","ichthyosis, congenital, autosomal recessive 14",1,"disputed"],["d","MONDO:0033092","ichthyosis, congenital, autosomal recessive 13",1,"graded_apart"],["d","MONDO:0033115","spinocerebellar ataxia, autosomal recessive 25",1,"graded_apart"],["d","MONDO:0033116","spinocerebellar ataxia, autosomal recessive 26",1,"disputed"],["d","MONDO:0033123","exudative vitreoretinopathy 7",1,"graded_apart"],["d","MONDO:0033135","Charcot-Marie-Tooth disease, demyelinating, type 1G",1,"graded_apart"],["d","MONDO:0033187","combined oxidative phosphorylation defect type 29",1,"ungraded"],["d","MONDO:0033198","hearing loss, autosomal recessive 106",1,"agreed"],["d","MONDO:0033199","hearing loss, autosomal recessive 107",1,"graded_apart"],["d","MONDO:0033200","hearing loss, autosomal recessive 108",1,"graded_apart"],["d","MONDO:0033201","hearing loss, autosomal recessive 57",1,"single"],["d","MONDO:0033202","hearing loss, autosomal recessive 109",1,"graded_apart"],["d","MONDO:0033203","nephrotic syndrome 14",1,"graded_apart"],["d","MONDO:0033204","ciliary dyskinesia, primary, 37",1,"single"],["d","MONDO:0033258","hearing loss, autosomal dominant 71",1,"agreed"],["d","MONDO:0033259","hearing loss, autosomal dominant 72",1,"single"],["d","MONDO:0033260","hearing loss, autosomal dominant 73",1,"disputed"],["d","MONDO:0033262","nephrotic syndrome 15",1,"disputed"],["d","MONDO:0033280","nephrotic syndrome 16",1,"disputed"],["d","MONDO:0033281","polycystic kidney disease 5",1,"graded_apart"],["d","MONDO:0033282","multiple mitochondrial dysfunctions syndrome 5",1,"disputed"],["d","MONDO:0033308","Joubert syndrome 30",1,"agreed"],["d","MONDO:0033309","Joubert syndrome 32",1,"disputed"],["d","MONDO:0033310","Joubert syndrome 31",1,"single"],["d","MONDO:0033311","Joubert syndrome 33",1,"agreed"],["d","MONDO:0033361","developmental and epileptic encephalopathy, 52",1,"agreed"],["d","MONDO:0033362","developmental and epileptic encephalopathy, 53",1,"graded_apart"],["d","MONDO:0033363","developmental and epileptic encephalopathy, 54",1,"graded_apart"],["d","MONDO:0033364","developmental and epileptic encephalopathy, 55",1,"graded_apart"],["d","MONDO:0033365","developmental and epileptic encephalopathy, 56",1,"agreed"],["d","MONDO:0033366","developmental and epileptic encephalopathy, 57",1,"disputed"],["d","MONDO:0033367","developmental and epileptic encephalopathy, 58",1,"agreed"],["d","MONDO:0033368","developmental and epileptic encephalopathy, 59",1,"graded_apart"],["d","MONDO:0033369","developmental and epileptic encephalopathy, 60",1,"disputed"],["d","MONDO:0033370","developmental and epileptic encephalopathy, 61",1,"disputed"],["d","MONDO:0033371","developmental and epileptic encephalopathy, 62",1,"single"],["d","MONDO:0033372","developmental and epileptic encephalopathy, 63",1,"single"],["d","MONDO:0033373","developmental and epileptic encephalopathy, 64",1,"graded_apart"],["d","MONDO:0033374","developmental and epileptic encephalopathy, 65",1,"agreed"],["d","MONDO:0033375","orofaciodigital syndrome 17",1,"disputed"],["d","MONDO:0033479","spinocerebellar ataxia 44",1,"agreed"],["d","MONDO:0033480","spinocerebellar ataxia 45",1,"disputed"],["d","MONDO:0033481","spinocerebellar ataxia 46",1,"graded_apart"],["d","MONDO:0033482","spinocerebellar ataxia 47",1,"graded_apart"],["d","MONDO:0033483","erythrocytosis, familial, 5",1,"disputed"],["d","MONDO:0033485","short-rib thoracic dysplasia 19 with or without polydactyly",1,"graded_apart"],["d","MONDO:0033486","leukodystrophy, hypomyelinating, 14",1,"agreed"],["d","MONDO:0033492","Coffin-Siris syndrome 6",1,"agreed"],["d","MONDO:0033493","fibromatosis, gingival, 5",1,"graded_apart"],["d","MONDO:0033532","Suleiman-El-Hattab syndrome",1,"graded_apart"],["d","MONDO:0033533","combined oxidative phosphorylation deficiency 45",2,"agreed"],["d","MONDO:0033534","combined oxidative phosphorylation deficiency 46",1,"agreed"],["d","MONDO:0033537","combined oxidative phosphorylation deficiency 47",1,"agreed"],["d","MONDO:0033541","immunodeficiency 69",1,"graded_apart"],["d","MONDO:0033542","immunodeficiency 70",1,"disputed"],["d","MONDO:0033543","cone-rod synaptic disorder syndrome, congenital nonprogressive",1,"graded_apart"],["d","MONDO:0033544","Tolchin-Le Caignec syndrome",1,"graded_apart"],["d","MONDO:0033545","mitochondrial DNA depletion syndrome 19",1,"graded_apart"],["d","MONDO:0033546","neurodegeneration, infantile-onset, biotin-responsive",1,"graded_apart"],["d","MONDO:0033547","Li-Ghorbani-Weisz-Hubshman syndrome",1,"graded_apart"],["d","MONDO:0033548","myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",1,"disputed"],["d","MONDO:0033549","optic atrophy 12",1,"agreed"],["d","MONDO:0033551","immunodeficiency 72 with autoinflammation",1,"graded_apart"],["d","MONDO:0033554","immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia",1,"agreed"],["d","MONDO:0033555","immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",1,"disputed"],["d","MONDO:0033557","hemophagocytic lymphohistiocytosis, familial, 6",1,"graded_apart"],["d","MONDO:0033558","autoinflammation, immune dysregulation, and eosinophilia",1,"graded_apart"],["d","MONDO:0033559","intellectual developmental disorder with seizures and language delay",1,"graded_apart"],["d","MONDO:0033560","mitochondrial complex 1 deficiency, nuclear type 35",1,"single"],["d","MONDO:0033561","deeah syndrome",1,"single"],["d","MONDO:0033562","neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",1,"agreed"],["d","MONDO:0033563","retinitis pigmentosa 90",1,"agreed"],["d","MONDO:0033564","oocyte maturation defect 8",1,"disputed"],["d","MONDO:0033565","oocyte maturation defect 9",1,"disputed"],["d","MONDO:0033566","combined oxidative phosphorylation deficiency 48",1,"graded_apart"],["d","MONDO:0033569","combined oxidative phosphorylation deficiency 49",1,"agreed"],["d","MONDO:0033570","combined oxidative phosphorylation deficiency 50",1,"single"],["d","MONDO:0033571","skeletal muscle glycogen content and metabolism quantitative trait locus",1,"single"],["d","MONDO:0033613","neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities",2,"graded_apart"],["d","MONDO:0033614","spastic paraplegia 83, autosomal recessive",1,"single"],["d","MONDO:0033615","coenzyme q10 deficiency, primary, 9",1,"single"],["d","MONDO:0033618","Vissers-Bodmer syndrome",1,"agreed"],["d","MONDO:0033619","myopathy, epilepsy, and progressive cerebral atrophy",1,"single"],["d","MONDO:0033620","myofibrillar myopathy 10",1,"disputed"],["d","MONDO:0033621","spinal muscular atrophy, infantile, James type",1,"single"],["d","MONDO:0033622","spermatogenic failure 44",1,"single"],["d","MONDO:0033630","neurodevelopmental disorder with speech impairment and dysmorphic facies",1,"agreed"],["d","MONDO:0033631","combined oxidative phosphorylation deficiency 51",1,"graded_apart"],["d","MONDO:0033635","mitochondrial complex IV deficiency, nuclear type 3",1,"agreed"],["d","MONDO:0033636","mitochondrial complex IV deficiency, nuclear type 4",1,"graded_apart"],["d","MONDO:0033637","mitochondrial complex IV deficiency, nuclear type 7",1,"agreed"],["d","MONDO:0033638","mitochondrial complex IV deficiency, nuclear type 8",1,"graded_apart"],["d","MONDO:0033639","mitochondrial complex IV deficiency, nuclear type 10",1,"single"],["d","MONDO:0033640","vitamin D-dependent rickets, type 3",1,"agreed"],["d","MONDO:0033641","cleft palate, proliferative retinopathy, and developmental delay",1,"graded_apart"],["d","MONDO:0033642","neurodevelopmental disorder with alopecia and brain abnormalities",1,"agreed"],["d","MONDO:0033643","inflammatory bowel disease 30",1,"single"],["d","MONDO:0033644","microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",1,"disputed"],["d","MONDO:0033645","mitochondrial complex IV deficiency, nuclear type 11",1,"agreed"],["d","MONDO:0033646","mitochondrial complex IV deficiency, nuclear type 12",1,"agreed"],["d","MONDO:0033649","mitochondrial complex IV deficiency, nuclear type 14",1,"single"],["d","MONDO:0033650","mitochondrial complex IV deficiency, nuclear type 15",1,"single"],["d","MONDO:0033651","mitochondrial complex IV deficiency, nuclear type 16",1,"single"],["d","MONDO:0033652","mitochondrial complex IV deficiency, nuclear type 17",1,"agreed"],["d","MONDO:0033653","mitochondrial complex IV deficiency, nuclear type 18",1,"agreed"],["d","MONDO:0033654","mitochondrial complex IV deficiency, nuclear type 19",1,"agreed"],["d","MONDO:0033655","mitochondrial complex IV deficiency, nuclear type 20",1,"agreed"],["d","MONDO:0033656","mitochondrial complex IV deficiency, nuclear type 21",1,"single"],["d","MONDO:0033657","leukodystrophy, hypomyelinating, 20",1,"agreed"],["d","MONDO:0033658","neurodevelopmental disorder with seizures and brain atrophy",1,"graded_apart"],["d","MONDO:0033662","neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",1,"disputed"],["d","MONDO:0033664","Kilquist syndrome",1,"agreed"],["d","MONDO:0033665","hearing loss, autosomal dominant 78",1,"single"],["d","MONDO:0033667","Delpire-McNeill syndrome",1,"agreed"],["d","MONDO:0033668","hearing loss, autosomal dominant 79",1,"agreed"],["d","MONDO:0033669","Noonan syndrome 13",1,"graded_apart"],["d","MONDO:0033670","hearing loss, autosomal recessive 116",1,"graded_apart"],["d","MONDO:0033671","spermatogenic failure 45",1,"disputed"],["d","MONDO:0033673","spermatogenic failure 46",1,"agreed"],["d","MONDO:0033850","autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect",1,"ungraded"],["d","MONDO:0033856","LAMA5-related multisystemic syndrome",1,"agreed"],["d","MONDO:0033864","infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome",1,"graded_apart"],["d","MONDO:0033946","hereditary angioedema with C1Inh deficiency",1,"agreed"],["d","MONDO:0033968","immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome",1,"ungraded"],["d","MONDO:0034022","Bethlem myopathy 2",1,"single"],["d","MONDO:0034054","severe combined immunodeficiency due to CD70 deficiency",1,"graded_apart"],["d","MONDO:0034092","optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome",1,"single"],["d","MONDO:0034099","SYNGAP1-related developmental and epileptic encephalopathy",1,"ungraded"],["d","MONDO:0034106","developmental and epileptic encephalopathy, 73",1,"disputed"],["d","MONDO:0034109","congenital myopathy with reduced type 2 muscle fibers",1,"graded_apart"],["d","MONDO:0034121","NAD(P)HX dehydratase deficiency",1,"graded_apart"],["d","MONDO:0034143","early-onset calcifying leukoencephalopathy-skeletal dysplasia",1,"ungraded"],["d","MONDO:0034145","oculocerebrodental syndrome",1,"agreed"],["d","MONDO:0034186","autosomal recessive extra-oral halitosis",1,"ungraded"],["d","MONDO:0034204","syndromic congenital sodium diarrhea",1,"single"],["d","MONDO:0034217","resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta",1,"ungraded"],["d","MONDO:0035133","PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome",1,"agreed"],["d","MONDO:0035375","multisystem inflammatory syndrome in children and adults",2,"single"],["d","MONDO:0035459","idiopathic multidrug-resistant nephrotic syndrome",1,"single"],["d","MONDO:0035474","PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis",1,"agreed"],["d","MONDO:0035540","pheochromocytoma-paraganglioma",1,"single"],["d","MONDO:0035651","choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome",1,"graded_apart"],["d","MONDO:0035694","combined immunodeficiency due to RELA haploinsufficiency",1,"single"],["d","MONDO:0035706","SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome",1,"agreed"],["d","MONDO:0035819","cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome",1,"agreed"],["d","MONDO:0036042","KAT6B-related multiple congenital anomalies syndrome",1,"agreed"],["d","MONDO:0036189","oculogastrointestinal-neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0036193","parkinsonism with polyneuropathy",1,"agreed"],["d","MONDO:0036212","spastic paraparesis-cataracts-speech delay syndrome",1,"single"],["d","MONDO:0036482","retinitis pigmentosa 81",1,"disputed"],["d","MONDO:0036483","short-rib thoracic dysplasia 18 with polydactyly",1,"agreed"],["d","MONDO:0037858","inherited fatty acid metabolism disorder",1,"single"],["d","MONDO:0040500","glycosylphosphatidylinositol biosynthesis defect 16",1,"disputed"],["d","MONDO:0040501","Ehlers-Danlos syndrome, arthrochalasia type, 2",1,"agreed"],["d","MONDO:0040502","glucocorticoid deficiency 5",1,"disputed"],["d","MONDO:0040503","blepharocheilodontic syndrome 2",1,"agreed"],["d","MONDO:0042486","polyposis syndrome, hereditary mixed, 1",1,"single"],["d","MONDO:0042977","trichoepithelioma, multiple familial, 1",1,"single"],["d","MONDO:0042979","hypokalemic periodic paralysis, type 1",1,"agreed"],["d","MONDO:0042982","GATA2 deficiency with susceptibility to MDS/AML",1,"agreed"],["d","MONDO:0042983","neurocutaneous syndrome",1,"single"],["d","MONDO:0043209","albinism",1,"single"],["d","MONDO:0043364","eosinophil peroxidase deficiency",1,"agreed"],["d","MONDO:0044202","episodic kinesigenic dyskinesia",1,"single"],["d","MONDO:0044203","foveal hypoplasia",1,"single"],["d","MONDO:0044204","Shwachman-Diamond syndrome 1",1,"agreed"],["d","MONDO:0044205","Shwachman-Diamond syndrome 2",1,"graded_apart"],["d","MONDO:0044206","otospondylomegaepiphyseal dysplasia, autosomal recessive",2,"graded_apart"],["d","MONDO:0044207","specific granule deficiency 1",1,"single"],["d","MONDO:0044208","specific granule deficiency 2",1,"agreed"],["d","MONDO:0044248","thiourea tasting",1,"single"],["d","MONDO:0044271","bone mineral density quantitative trait locus 1",1,"single"],["d","MONDO:0044272","body mass index quantitative trait locus 9",1,"agreed"],["d","MONDO:0044274","hemoglobin, high altitude adaptation",1,"single"],["d","MONDO:0044277","uric acid concentration, serum, quantitative trait locus 4",1,"single"],["d","MONDO:0044299","myasthenic syndrome, congenital, 22",1,"graded_apart"],["d","MONDO:0044300","familial adenomatous polyposis 4",1,"graded_apart"],["d","MONDO:0044301","aortic aneurysm, familial thoracic 11, susceptibility to",1,"graded_apart"],["d","MONDO:0044302","congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",1,"agreed"],["d","MONDO:0044303","congenital heart defects and ectodermal dysplasia",1,"graded_apart"],["d","MONDO:0044304","hyperphenylalaninemia due to DNAJC12 deficiency",1,"agreed"],["d","MONDO:0044305","ectodermal dysplasia 13, hair/tooth type",1,"graded_apart"],["d","MONDO:0044306","neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination",1,"agreed"],["d","MONDO:0044308","bardet-biedl syndrome 21",1,"disputed"],["d","MONDO:0044309","Diamond-Blackfan anemia 16",1,"graded_apart"],["d","MONDO:0044310","Diamond-Blackfan anemia 17",1,"agreed"],["d","MONDO:0044311","brachycephaly, trichomegaly, and developmental delay",1,"disputed"],["d","MONDO:0044312","immunoskeletal dysplasia with neurodevelopmental abnormalities",1,"graded_apart"],["d","MONDO:0044313","intellectual disability, autosomal recessive 60",1,"disputed"],["d","MONDO:0044314","retinitis pigmentosa 78",1,"disputed"],["d","MONDO:0044315","craniosynostosis 7",1,"disputed"],["d","MONDO:0044316","thrombocytopenia, anemia, and myelofibrosis",1,"agreed"],["d","MONDO:0044317","premature ovarian failure 13",1,"graded_apart"],["d","MONDO:0044318","intellectual developmental disorder with gastrointestinal difficulties and high pain threshold",1,"graded_apart"],["d","MONDO:0044319","intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies",1,"agreed"],["d","MONDO:0044320","retinitis pigmentosa 79",1,"disputed"],["d","MONDO:0044321","structural heart defects and renal anomalies syndrome",1,"agreed"],["d","MONDO:0044322","intellectual developmental disorder with neuropsychiatric features",1,"disputed"],["d","MONDO:0044323","Rahman syndrome",1,"agreed"],["d","MONDO:0044324","Al Kaissi syndrome",1,"disputed"],["d","MONDO:0044325","Fanconi anemia, complementation group W",1,"graded_apart"],["d","MONDO:0044326","developmental delay and seizures with or without movement abnormalities",1,"agreed"],["d","MONDO:0044327","polycystic liver disease 4 with or without kidney cysts",1,"disputed"],["d","MONDO:0044328","short-rib thoracic dysplasia 20 with polydactyly",1,"single"],["d","MONDO:0044329","osteogenesis imperfecta, type 18",1,"agreed"],["d","MONDO:0044330","hyperekplexia 4",1,"graded_apart"],["d","MONDO:0044332","childhood-onset benign chorea with striatal involvement",1,"ungraded"],["d","MONDO:0044626","female infertility due to oocyte meiotic arrest",2,"single"],["d","MONDO:0044634","retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",1,"disputed"],["d","MONDO:0044635","DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome",1,"agreed"],["d","MONDO:0044637","infantile-onset generalized dyskinesia with orofacial involvement",1,"agreed"],["d","MONDO:0044640","Charcot-Marie-Tooth disease type 2T",1,"single"],["d","MONDO:0044642","c11orf73-related autosomal recessive hypomyelinating leukodystrophy",1,"single"],["d","MONDO:0044646","early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",2,"agreed"],["d","MONDO:0044647","kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome",1,"ungraded"],["d","MONDO:0044648","kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome",1,"ungraded"],["d","MONDO:0044657","MME-related autosomal dominant Charcot Marie Tooth disease type 2",1,"ungraded"],["d","MONDO:0044660","menstrual cycle-dependent periodic fever",1,"agreed"],["d","MONDO:0044696","early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome",1,"disputed"],["d","MONDO:0044699","SIN3A-related intellectual disability syndrome",1,"agreed"],["d","MONDO:0044700","SIN3A-related intellectual disability syndrome due to a point mutation",2,"ungraded"],["d","MONDO:0044701","childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",1,"agreed"],["d","MONDO:0044702","X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",1,"single"],["d","MONDO:0044714","mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome",1,"graded_apart"],["d","MONDO:0044718","alkaline ceramidase 3 deficiency",1,"disputed"],["d","MONDO:0044720","cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",1,"agreed"],["d","MONDO:0044721","severe combined immunodeficiency due to LAT deficiency",1,"agreed"],["d","MONDO:0044723","3-methylglutaconic aciduria type 8",1,"agreed"],["d","MONDO:0044724","3-methylglutaconic aciduria type 9",1,"graded_apart"],["d","MONDO:0044725","combined immunodeficiency due to GINS1 deficiency",1,"disputed"],["d","MONDO:0044726","psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome",1,"graded_apart"],["d","MONDO:0044738","Gabriele de Vries syndrome",1,"agreed"],["d","MONDO:0044742","autosomal recessive epidermolytic ichthyosis",1,"ungraded"],["d","MONDO:0044765","steroid-resistant nephrotic syndrome",1,"single"],["d","MONDO:0044776","premature ovarian failure 10",2,"agreed"],["d","MONDO:0044777","premature ovarian failure 14",1,"disputed"],["d","MONDO:0044781","nephrotic syndrome of childhood - steroid sensitive",1,"single"],["d","MONDO:0044792","large congenital melanocytic nevus",1,"single"],["d","MONDO:0044807","inherited dystonia",3,"single"],["d","MONDO:0044970","mitochondrial disease",244,"disputed"],["d","MONDO:0045008","cholesterol metabolism disease",1,"single"],["d","MONDO:0049221","myopia 26, X-linked, female-limited",1,"graded_apart"],["d","MONDO:0049222","intellectual disability, X-linked 107",1,"graded_apart"],["d","MONDO:0049223","osteogenesis imperfecta, type 19",1,"disputed"],["d","MONDO:0054549","peroxisome biogenesis disorder 10B",1,"single"],["d","MONDO:0054550","avascular necrosis of femoral head, primary, 1",1,"single"],["d","MONDO:0054559","congenital disorder of glycosylation, type IIq",1,"disputed"],["d","MONDO:0054561","anauxetic dysplasia 2",1,"agreed"],["d","MONDO:0054565","short-rib thoracic dysplasia 17 with or without polydactyly",1,"disputed"],["d","MONDO:0054573","Lopes-Maciel-Rodan syndrome",1,"disputed"],["d","MONDO:0054577","bleeding disorder, platelet-type, 21",1,"graded_apart"],["d","MONDO:0054581","Townes-Brocks syndrome 1",1,"agreed"],["d","MONDO:0054582","Townes-Brocks syndrome 2",1,"graded_apart"],["d","MONDO:0054588","Noonan syndrome-like disorder with loose anagen hair 2",1,"agreed"],["d","MONDO:0054591","Stankiewicz-Isidor syndrome",1,"agreed"],["d","MONDO:0054593","microcephaly 18, primary, autosomal dominant",1,"agreed"],["d","MONDO:0054601","pituitary adenoma 5, multiple types",1,"single"],["d","MONDO:0054602","gaze palsy, familial horizontal, with progressive scoliosis, 2",1,"disputed"],["d","MONDO:0054615","spermatogenic failure 18",1,"agreed"],["d","MONDO:0054636","Skraban-Deardorff syndrome",1,"agreed"],["d","MONDO:0054637","Noonan syndrome-like disorder with loose anagen hair 1",1,"agreed"],["d","MONDO:0054654","combined oxidative phosphorylation deficiency 32",1,"agreed"],["d","MONDO:0054666","ovarian dysgenesis 5",1,"disputed"],["d","MONDO:0054669","pontocerebellar hypoplasia, type 11",1,"agreed"],["d","MONDO:0054677","combined oxidative phosphorylation deficiency 33",1,"agreed"],["d","MONDO:0054691","immunodeficiency, common variable, 14",1,"disputed"],["d","MONDO:0054695","myopathy, centronuclear, 6, with fiber-type disproportion",1,"graded_apart"],["d","MONDO:0054696","immunodeficiency 53",1,"disputed"],["d","MONDO:0054697","immunodeficiency 11b with atopic dermatitis",1,"agreed"],["d","MONDO:0054698","proteasome-associated autoinflammatory syndrome 1",1,"graded_apart"],["d","MONDO:0054699","proteasome-associated autoinflammatory syndrome 3",2,"agreed"],["d","MONDO:0054700","proteasome-associated autoinflammatory syndrome 2",1,"graded_apart"],["d","MONDO:0054701","Kleefstra syndrome 2",1,"graded_apart"],["d","MONDO:0054708","retinitis pigmentosa 80",1,"single"],["d","MONDO:0054716","microcephaly 19, primary, autosomal recessive",1,"agreed"],["d","MONDO:0054722","geleophysic dysplasia 3",1,"disputed"],["d","MONDO:0054723","spermatogenic failure 19",1,"disputed"],["d","MONDO:0054724","spermatogenic failure 20",1,"single"],["d","MONDO:0054725","spermatogenic failure 21",1,"single"],["d","MONDO:0054726","spermatogenic failure 22",1,"agreed"],["d","MONDO:0054728","spermatogenic failure 24",1,"single"],["d","MONDO:0054729","spermatogenic failure 25",1,"single"],["d","MONDO:0054730","spermatogenic failure 26",1,"single"],["d","MONDO:0054731","spermatogenic failure 27",1,"single"],["d","MONDO:0054732","spermatogenic failure 28",1,"agreed"],["d","MONDO:0054733","spermatogenic failure 29",1,"single"],["d","MONDO:0054736","mosaic variegated aneuploidy syndrome 3",1,"disputed"],["d","MONDO:0054737","Fraser syndrome 1",2,"agreed"],["d","MONDO:0054738","Fraser syndrome 2",1,"graded_apart"],["d","MONDO:0054739","Fraser syndrome 3",1,"agreed"],["d","MONDO:0054740","blepharocheilodontic syndrome 1",1,"agreed"],["d","MONDO:0054741","combined oxidative phosphorylation deficiency 34",1,"graded_apart"],["d","MONDO:0054742","combined oxidative phosphorylation deficiency 35",1,"agreed"],["d","MONDO:0054743","polycystic liver disease 3 with or without kidney cysts",1,"disputed"],["d","MONDO:0054748","Fanconi anemia, complementation group S",1,"disputed"],["d","MONDO:0054749","body mass index quantitative trait locus 19",1,"graded_apart"],["d","MONDO:0054750","amyotrophic lateral sclerosis, susceptibility to, 24",1,"graded_apart"],["d","MONDO:0054752","multiple synostoses syndrome 4",1,"single"],["d","MONDO:0054754","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8",1,"single"],["d","MONDO:0054761","microcephaly 20, primary, autosomal recessive",1,"agreed"],["d","MONDO:0054763","neurodegeneration with brain iron accumulation 7",1,"agreed"],["d","MONDO:0054764","neurodegeneration with brain iron accumulation 8",1,"agreed"],["d","MONDO:0054765","amyloidosis, primary localized cutaneous, 3",1,"graded_apart"],["d","MONDO:0054770","orofaciodigital syndrome 18",1,"agreed"],["d","MONDO:0054771","keratoconus 9",1,"single"],["d","MONDO:0054776","epilepsy, familial focal, with variable foci 4",1,"agreed"],["d","MONDO:0054780","elliptocytosis 3",1,"agreed"],["d","MONDO:0054781","combined oxidative phosphorylation deficiency 36",1,"disputed"],["d","MONDO:0054782","leukodystrophy, hypomyelinating, 15",1,"agreed"],["d","MONDO:0054785","multiple mitochondrial dysfunctions syndrome 6",1,"graded_apart"],["d","MONDO:0054791","leukodystrophy, hypomyelinating, 16",1,"disputed"],["d","MONDO:0054794","hydrocephalus, congenital, 3, with brain anomalies",1,"single"],["d","MONDO:0054801","erythrocytosis, familial, 6",1,"agreed"],["d","MONDO:0054802","erythrocytosis, familial, 7",2,"disputed"],["d","MONDO:0054804","microcephaly 21, primary, autosomal recessive",1,"disputed"],["d","MONDO:0054805","microcephaly 22, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0054806","microcephaly 23, primary, autosomal recessive",1,"agreed"],["d","MONDO:0054813","Ehlers-Danlos syndrome, classic-like, 2",1,"graded_apart"],["d","MONDO:0054817","leukodystrophy, hypomyelinating, 17",1,"disputed"],["d","MONDO:0054831","Coffin-Siris syndrome 7",1,"graded_apart"],["d","MONDO:0054832","corneal dystrophy, posterior polymorphous, 4",1,"single"],["d","MONDO:0054833","Charcot-Marie-tooth disease, axonal, type 2DD",1,"agreed"],["d","MONDO:0054835","classic dopamine transporter deficiency syndrome",1,"graded_apart"],["d","MONDO:0054836","parkinsonism-dystonia, infantile, 2",1,"graded_apart"],["d","MONDO:0054837","intellectual disability, autosomal dominant 57",1,"agreed"],["d","MONDO:0054838","cardiomyopathy, familial hypertrophic 27",1,"graded_apart"],["d","MONDO:0054842","polycystic kidney disease 6 with or without polycystic liver disease",1,"graded_apart"],["d","MONDO:0054843","ciliary dyskinesia, primary, 38",1,"agreed"],["d","MONDO:0054844","pontocerebellar hypoplasia, type 1D",1,"graded_apart"],["d","MONDO:0054845","developmental and epileptic encephalopathy, 66",1,"graded_apart"],["d","MONDO:0054846","epilepsy, familial adult myoclonic, 6",1,"agreed"],["d","MONDO:0054847","epilepsy, familial adult myoclonic, 7",1,"single"],["d","MONDO:0054850","ovarian dysgenesis 6",1,"disputed"],["d","MONDO:0054852","peeling skin syndrome 6",1,"disputed"],["d","MONDO:0054860","hearing loss, autosomal recessive 110",1,"single"],["d","MONDO:0054861","intellectual developmental disorder, autosomal recessive 63",1,"agreed"],["d","MONDO:0054862","premature ovarian failure 15",1,"single"],["d","MONDO:0054865","encephalopathy due to mitochondrial and peroxisomal fission defect",2,"single"],["d","MONDO:0054866","sudden arrhythmia death syndrome",1,"single"],["d","MONDO:0056797","neurodevelopmental disorder with midbrain and hindbrain malformations",1,"single"],["d","MONDO:0060455","X-linked congenital hemolytic anemia",1,"agreed"],["d","MONDO:0060457","autoinflammation with arthritis and dyskeratosis",1,"disputed"],["d","MONDO:0060486","arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",1,"agreed"],["d","MONDO:0060489","46,XX sex reversal 4",1,"single"],["d","MONDO:0060490","neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies",2,"agreed"],["d","MONDO:0060491","neurodevelopmental disorder with involuntary movements",1,"agreed"],["d","MONDO:0060496","neurodevelopmental disorder with hypotonia, neuropathy, and deafness",1,"agreed"],["d","MONDO:0060502","neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies",1,"agreed"],["d","MONDO:0060510","Cohen-Gibson syndrome",1,"graded_apart"],["d","MONDO:0060527","maleylacetoacetate isomerase deficiency",1,"single"],["d","MONDO:0060532","congenital heart defects and skeletal malformations syndrome",1,"agreed"],["d","MONDO:0060533","microcephaly, short stature, and limb abnormalities",1,"agreed"],["d","MONDO:0060549","congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",1,"agreed"],["d","MONDO:0060550","polydactyly, postaxial, type a7",1,"disputed"],["d","MONDO:0060551","cerebellar atrophy, developmental delay, and seizures",1,"graded_apart"],["d","MONDO:0060554","vertebral, cardiac, renal, and limb defects syndrome 1",1,"disputed"],["d","MONDO:0060555","vertebral, cardiac, renal, and limb defects syndrome 2",1,"disputed"],["d","MONDO:0060556","joint laxity, short stature, and myopia",1,"agreed"],["d","MONDO:0060562","encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities",1,"disputed"],["d","MONDO:0060564","HELIX syndrome",1,"graded_apart"],["d","MONDO:0060568","Pilarowski-Bjornsson syndrome",1,"disputed"],["d","MONDO:0060577","neurodevelopmental disorder with microcephaly, ataxia, and seizures",1,"graded_apart"],["d","MONDO:0060578","neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",1,"agreed"],["d","MONDO:0060582","auditory neuropathy-optic atrophy syndrome",1,"agreed"],["d","MONDO:0060583","platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",1,"agreed"],["d","MONDO:0060585","neuronopathy, distal hereditary motor, type 9",1,"graded_apart"],["d","MONDO:0060589","facial palsy, congenital, with ptosis and velopharyngeal dysfunction",1,"single"],["d","MONDO:0060591","immunodeficiency, developmental delay, and hypohomocysteinemia",1,"disputed"],["d","MONDO:0060592","Sweeney-Cox syndrome",1,"disputed"],["d","MONDO:0060596","neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",1,"agreed"],["d","MONDO:0060611","combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",1,"agreed"],["d","MONDO:0060621","neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",1,"agreed"],["d","MONDO:0060622","neurodevelopmental disorder with severe motor impairment and absent language",1,"agreed"],["d","MONDO:0060624","neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",1,"graded_apart"],["d","MONDO:0060627","glycosylphosphatidylinositol biosynthesis defect 15",1,"agreed"],["d","MONDO:0060629","neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",1,"graded_apart"],["d","MONDO:0060631","Alkuraya-Kucinskas syndrome",1,"agreed"],["d","MONDO:0060640","neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",1,"graded_apart"],["d","MONDO:0060641","neurodevelopmental disorder with or without seizures and gait abnormalities",1,"disputed"],["d","MONDO:0060642","neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features",1,"agreed"],["d","MONDO:0060650","Leber congenital amaurosis with early-onset deafness",1,"single"],["d","MONDO:0060659","neurodevelopmental disorder with poor language and loss of hand skills",1,"agreed"],["d","MONDO:0060662","Diamond-Blackfan anemia-like",1,"agreed"],["d","MONDO:0060663","congenital heart defects, multiple types, 5",1,"graded_apart"],["d","MONDO:0060664","neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",1,"disputed"],["d","MONDO:0060666","hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome",1,"agreed"],["d","MONDO:0060670","amyotrophic lateral sclerosis, susceptibility to, 25",1,"agreed"],["d","MONDO:0060702","spondyloepimetaphyseal dysplasia, di rocco type",1,"single"],["d","MONDO:0060704","neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures",1,"agreed"],["d","MONDO:0060707","Ververi-Brady syndrome 1",1,"graded_apart"],["d","MONDO:0060711","Jaberi-Elahi syndrome",1,"agreed"],["d","MONDO:0060712","developmental delay, intellectual disability, obesity, and dysmorphic features",1,"single"],["d","MONDO:0060714","tumoral calcinosis, hyperphosphatemic, familial, 2",1,"graded_apart"],["d","MONDO:0060715","tumoral calcinosis, hyperphosphatemic, familial, 3",1,"agreed"],["d","MONDO:0060724","glycosylphosphatidylinositol biosynthesis defect 17",1,"disputed"],["d","MONDO:0060729","protoporphyria, erythropoietic, 2",1,"single"],["d","MONDO:0060732","tetraamelia syndrome 2",1,"agreed"],["d","MONDO:0060745","intellectual developmental disorder with or without epilepsy or cerebellar ataxia",1,"graded_apart"],["d","MONDO:0060752","neurodevelopmental disorder with spasticity and poor growth",1,"disputed"],["d","MONDO:0060758","spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits",1,"agreed"],["d","MONDO:0060759","neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures",1,"agreed"],["d","MONDO:0060760","intellectual developmental disorder with dysmorphic facies and behavioral abnormalities",2,"agreed"],["d","MONDO:0060761","neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum",1,"graded_apart"],["d","MONDO:0060763","intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities",1,"agreed"],["d","MONDO:0060764","tetraamelia syndrome 1",1,"disputed"],["d","MONDO:0100000","MED12-related intellectual disability syndrome",1,"agreed"],["d","MONDO:0100009","GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes",1,"agreed"],["d","MONDO:0100022","neonatal/infantile epilepsy syndrome",1,"single"],["d","MONDO:0100023","self-limited familial neonatal epilepsy",1,"single"],["d","MONDO:0100025","epilepsy of infancy with migrating focal seizures",1,"single"],["d","MONDO:0100034","cerebral folate deficiency",1,"single"],["d","MONDO:0100038","complex neurodevelopmental disorder",352,"disputed"],["d","MONDO:0100039","CDKL5 disorder",1,"single"],["d","MONDO:0100040","FOXG1 disorder",1,"agreed"],["d","MONDO:0100042","cardiac conduction defect",1,"single"],["d","MONDO:0100045","epidermodysplasia verruciformis, susceptibility to, 1",1,"agreed"],["d","MONDO:0100058","hypervalinemia and hyperleucine-isoleucinemia",1,"graded_apart"],["d","MONDO:0100061","PRPS1 deficiency disorder",1,"agreed"],["d","MONDO:0100062","genetic developmental and epileptic encephalopathy",62,"disputed"],["d","MONDO:0100064","tyrosine hydroxylase deficiency",1,"agreed"],["d","MONDO:0100069","hearing impairment and infertile male syndrome",1,"single"],["d","MONDO:0100079","developmental and epileptic encephalopathy, 6A",1,"agreed"],["d","MONDO:0100082","LEOPARD syndrome 1",1,"agreed"],["d","MONDO:0100083","hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1",1,"agreed"],["d","MONDO:0100084","alpha-actinopathy",1,"agreed"],["d","MONDO:0100089","GATA1-related cytopenia",1,"single"],["d","MONDO:0100090","congenital alveolar dysplasia due to FGF10",1,"single"],["d","MONDO:0100091","inherited pseudoxanthoma elasticum",1,"single"],["d","MONDO:0100092","myoclonus, familial, 2",1,"single"],["d","MONDO:0100093","myoclonus, familial, 1",1,"agreed"],["d","MONDO:0100095","neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",1,"agreed"],["d","MONDO:0100100","congenital myopathy 3 with rigid spine",1,"single"],["d","MONDO:0100101","fetal akinesia deformation sequence 1",6,"single"],["d","MONDO:0100102","fetal akinesia deformation sequence 2",1,"agreed"],["d","MONDO:0100103","fetal akinesia deformation sequence 3",1,"disputed"],["d","MONDO:0100104","fetal akinesia deformation sequence 4",1,"agreed"],["d","MONDO:0100105","brain small vessel disease 3",1,"graded_apart"],["d","MONDO:0100108","TPM3-related myopathy",1,"single"],["d","MONDO:0100111","focal segmental glomerulosclerosis and neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0100112","acyl-CoA binding domain containing protein 5 deficiency",1,"single"],["d","MONDO:0100118","hereditary skin disorder",1,"single"],["d","MONDO:0100119","Knobloch syndrome 2",1,"disputed"],["d","MONDO:0100121","SCN4A-related myopathy, autosomal recessive",1,"agreed"],["d","MONDO:0100122","GNPTAB-mucolipidosis",1,"agreed"],["d","MONDO:0100124","NAA10-related syndrome",1,"agreed"],["d","MONDO:0100126","P5CS deficiency",1,"agreed"],["d","MONDO:0100133","mitochondrial complex I deficiency",29,"single"],["d","MONDO:0100135","Dravet syndrome",1,"agreed"],["d","MONDO:0100137","telomere syndrome",2,"disputed"],["d","MONDO:0100146","ATP6AP2-related disorder",1,"single"],["d","MONDO:0100147","SATB2 associated disorder",1,"agreed"],["d","MONDO:0100148","X-linked complex neurodevelopmental disorder",33,"graded_apart"],["d","MONDO:0100149","PNPLA6-related spastic paraplegia with or without ataxia",1,"single"],["d","MONDO:0100150","RYR1-related myopathy",1,"agreed"],["d","MONDO:0100151","nephropathic cystinosis",1,"agreed"],["d","MONDO:0100152","DKC1-related disorder",1,"agreed"],["d","MONDO:0100153","tubulinopathy",2,"single"],["d","MONDO:0100154","TUBB3-related tubulinopathy",2,"single"],["d","MONDO:0100155","retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome",1,"agreed"],["d","MONDO:0100156","Imerslund-Grasbeck syndrome type 1",2,"agreed"],["d","MONDO:0100157","Imerslund-Grasbeck syndrome type 2",1,"agreed"],["d","MONDO:0100158","CHRNG-associated hypo-akinesia disorder of prenatal onset",1,"single"],["d","MONDO:0100162","IKBKG-related immunodeficiency with or without ectodermal dysplasia",1,"agreed"],["d","MONDO:0100164","permanent neonatal diabetes mellitus",12,"agreed"],["d","MONDO:0100165","permanent neonatal diabetes mellitus 1",1,"graded_apart"],["d","MONDO:0100173","leukemia, acute myeloid, susceptibility to",1,"single"],["d","MONDO:0100175","TTN-related myopathy",1,"single"],["d","MONDO:0100176","AP-4 deficiency syndrome",4,"single"],["d","MONDO:0100183","radioulnar synostosis, nonsyndromic, susceptibility to",1,"agreed"],["d","MONDO:0100184","GTP cyclohydrolase I deficiency",1,"agreed"],["d","MONDO:0100186","GTP cyclohydrolase I deficiency with hyperphenylalaninemia",1,"agreed"],["d","MONDO:0100189","apolipoprotein A-I deficiency",2,"ungraded"],["d","MONDO:0100196","TPM2-related myopathy",1,"single"],["d","MONDO:0100200","microcephaly with intellectual disability",1,"agreed"],["d","MONDO:0100210","growth hormone insensitivity syndrome with immune dysregulation",1,"single"],["d","MONDO:0100211","growth hormone insensitivity with immune dysregulation 1, autosomal recessive",1,"graded_apart"],["d","MONDO:0100213","IFAP syndrome 1, with or without BRESHECK syndrome",1,"agreed"],["d","MONDO:0100215","Rajab interstitial lung disease with brain calcifications 1",1,"graded_apart"],["d","MONDO:0100216","DICER1-related tumor predisposition",1,"single"],["d","MONDO:0100217","developmental delay with short stature, dysmorphic facial features, and sparse hair 2",1,"single"],["d","MONDO:0100218","arthrogryposis multiplex congenita 5",1,"graded_apart"],["d","MONDO:0100219","growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",1,"graded_apart"],["d","MONDO:0100220","Rajab interstitial lung disease with brain calcifications 2",1,"disputed"],["d","MONDO:0100221","IFAP syndrome 2",1,"graded_apart"],["d","MONDO:0100224","mitochondrial complex I deficiency, nuclear type 1",2,"agreed"],["d","MONDO:0100225","collagen 6-related myopathy",3,"single"],["d","MONDO:0100227","ALS2-related motor neuron disease",1,"agreed"],["d","MONDO:0100228","LAMA2-related muscular dystrophy",1,"agreed"],["d","MONDO:0100230","fatty acyl-CoA reductase 1 upregulation",1,"graded_apart"],["d","MONDO:0100234","paroxysmal familial ventricular fibrillation",2,"ungraded"],["d","MONDO:0100235","FOXC1-related anterior segment dysgenesis",1,"single"],["d","MONDO:0100241","inherited thrombocytopenia",1,"single"],["d","MONDO:0100244","paroxysmal nocturnal hemoglobinuria",1,"ungraded"],["d","MONDO:0100247","multiple congenital anomalies-hypotonia-seizures syndrome",1,"single"],["d","MONDO:0100250","46,XX sex reversal 1",1,"single"],["d","MONDO:0100251","familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",1,"single"],["d","MONDO:0100252","tumoral calcinosis, hyperphosphatemic, familial, 1",1,"agreed"],["d","MONDO:0100253","Roberts-SC phocomelia syndrome",1,"agreed"],["d","MONDO:0100255","adenosine kinase deficiency",1,"agreed"],["d","MONDO:0100256","CTNNA1-related diffuse gastric and lobular breast cancer syndrome",1,"single"],["d","MONDO:0100258","phytanoyl-CoA hydroxylase deficiency",1,"single"],["d","MONDO:0100259","peroxisome biogenesis disorder due to PEX1 defect",1,"agreed"],["d","MONDO:0100260","peroxisome biogenesis disorder due to PEX2 defect",1,"single"],["d","MONDO:0100263","peroxisome biogenesis disorder due to PEX6 defect",1,"single"],["d","MONDO:0100264","peroxisome biogenesis disorder due to PEX10 defect",1,"single"],["d","MONDO:0100272","peroxisome biogenesis disorder due to PEX7 defect",1,"single"],["d","MONDO:0100273","glyceronephosphate O-acyltransferase deficiency",1,"single"],["d","MONDO:0100274","alkylglycerone-phosphate synthase deficiency",1,"single"],["d","MONDO:0100278","alanine glyoxylate aminotransferase deficiency",1,"single"],["d","MONDO:0100283","overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",4,"agreed"],["d","MONDO:0100284","X-linked intellectual disability",6,"agreed"],["d","MONDO:0100287","POLE-related polyposis and colorectal cancer syndrome",1,"agreed"],["d","MONDO:0100288","enhanced S-cone syndrome",2,"agreed"],["d","MONDO:0100289","Goldmann-Favre syndrome",1,"single"],["d","MONDO:0100294","mitochondrial complex II deficiency, nuclear type 1",3,"agreed"],["d","MONDO:0100296","Olmsted syndrome 1",1,"agreed"],["d","MONDO:0100297","short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",1,"agreed"],["d","MONDO:0100299","PAX5-related B lymphopenia and autism spectrum disorder",1,"single"],["d","MONDO:0100302","LADD syndrome 1",2,"graded_apart"],["d","MONDO:0100303","ichthyosis, annular epidermolytic 1",2,"single"],["d","MONDO:0100305","bile acid CoA:amino acid N-acyltransferase deficiency",1,"single"],["d","MONDO:0100309","hereditary ataxia",2,"single"],["d","MONDO:0100313","focal segmental glomerulosclerosis",3,"single"],["d","MONDO:0100316","long QT syndrome 1",1,"agreed"],["d","MONDO:0100317","deficiency of adenosine deaminase 2",1,"single"],["d","MONDO:0100326","Glanzmann thrombasthenia",2,"single"],["d","MONDO:0100337","SEC61A1 deficiency",1,"single"],["d","MONDO:0100339","Friedreich ataxia",1,"agreed"],["d","MONDO:0100340","Friedreich ataxia 1",1,"agreed"],["d","MONDO:0100343","antenatal Bartter syndrome",1,"single"],["d","MONDO:0100344","Bartter disease type 1",1,"agreed"],["d","MONDO:0100346","microcephaly with or without short stature",1,"single"],["d","MONDO:0100348","neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",1,"graded_apart"],["d","MONDO:0100351","POLD1-related polyposis and colorectal cancer syndrome",1,"agreed"],["d","MONDO:0100352","episodic kinesigenic dyskinesia 1",1,"single"],["d","MONDO:0100354","megacystis-microcolon-intestinal hypoperistalsis syndrome 1",1,"single"],["d","MONDO:0100358","ectodermal dysplasia WNT10A related",1,"agreed"],["d","MONDO:0100365","mucopolysaccharidosis or mucopolysaccharidosis-like disorder",1,"single"],["d","MONDO:0100368","RPE65-related recessive retinopathy",1,"agreed"],["d","MONDO:0100432","FNIP1-associated syndrome",1,"single"],["d","MONDO:0100433","ACTB-associated syndromic thrombocytopenia",1,"graded_apart"],["d","MONDO:0100435","Schwartz-Jampel syndrome type 1",1,"agreed"],["d","MONDO:0100436","cataract 2, multiple types",1,"agreed"],["d","MONDO:0100437","RPGR-related retinopathy",1,"single"],["d","MONDO:0100438","AIPL1-related retinopathy",1,"agreed"],["d","MONDO:0100441","GUCY2D-related dominant retinopathy",1,"agreed"],["d","MONDO:0100442","RP2-related retinopathy",1,"single"],["d","MONDO:0100443","RDH5-related retinopathy",1,"single"],["d","MONDO:0100444","RLBP1-related retinopathy",1,"agreed"],["d","MONDO:0100445","LCA5-related retinopathy",1,"single"],["d","MONDO:0100446","CNGB3-related retinopathy",1,"single"],["d","MONDO:0100447","ATF6-related retinopathy",1,"single"],["d","MONDO:0100448","RAB28-related retinopathy",1,"single"],["d","MONDO:0100449","FLVCR1-related retinopathy with or without ataxia",1,"agreed"],["d","MONDO:0100450","CAPN5-related vitreoretinopathy",1,"agreed"],["d","MONDO:0100451","CEP290-related ciliopathy",1,"agreed"],["d","MONDO:0100452","RPE65-related dominant retinopathy",1,"agreed"],["d","MONDO:0100453","GUCY2D-related recessive retinopathy",1,"agreed"],["d","MONDO:0100455","neonatal-onset developmental and epileptic encephalopathy",1,"agreed"],["d","MONDO:0100456","neonatal encephalopathy with non-epileptic myoclonus",1,"single"],["d","MONDO:0100458","MECOM-associated syndrome",1,"single"],["d","MONDO:0100459","azoospermia",3,"single"],["d","MONDO:0100462","short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans",1,"agreed"],["d","MONDO:0100464","acid sphingomyelinase deficiency",1,"agreed"],["d","MONDO:0100465","complex neurodevelopmental disorder with or without congenital anomalies",6,"agreed"],["d","MONDO:0100472","lissencephaly spectrum disorder with complex brainstem malformation",1,"single"],["d","MONDO:0100476","lipodystrophy, partial, acquired, susceptibility to",1,"agreed"],["d","MONDO:0100478","brain malformations with or without urinary tract defects",1,"agreed"],["d","MONDO:0100485","KCNH1 associated disorder",1,"agreed"],["d","MONDO:0100487","TPM4-related platelet disorder",1,"single"],["d","MONDO:0100488","CDH1-related diffuse gastric and lobular breast cancer syndrome",1,"agreed"],["d","MONDO:0100498","UROD-related inherited porphyria",1,"agreed"],["d","MONDO:0100500","Mendelian neurodevelopmental disorder",3,"single"],["d","MONDO:0100502","NTHL1-deficiency tumor predisposition syndrome",1,"single"],["d","MONDO:0100506","Cockayne spectrum with or without cerebrooculofacioskeletal syndrome",1,"agreed"],["d","MONDO:0100509","IFT140-related recessive ciliopathy",1,"agreed"],["d","MONDO:0100510","spondyloepimetaphyseal dysplasia",2,"single"],["d","MONDO:0100513","TRAF3 haploinsufficiency",1,"single"],["d","MONDO:0100514","familial ovarian carcinoma",1,"single"],["d","MONDO:0100515","mirror movements 1 and/or agenesis of the corpus callosum",1,"single"],["d","MONDO:0100516","complex neurodevelopmental disorder with motor features",7,"graded_apart"],["d","MONDO:0100517","PSAP-related sphingolipidosis",1,"single"],["d","MONDO:0100520","NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction",1,"agreed"],["d","MONDO:0100521","NOG-related symphalangism spectrum disorder",1,"agreed"],["d","MONDO:0100522","hypotrichosis 4",2,"single"],["d","MONDO:0100523","SPAST-related motor disorder",1,"single"],["d","MONDO:0100524","ASAH1-related sphingolipidosis",1,"single"],["d","MONDO:0100530","myopathy caused by variation in CRPPA",1,"agreed"],["d","MONDO:0100531","Emery-Dreifuss muscular dystrophy 1, X-linked",1,"single"],["d","MONDO:0100539","hemiplegic migraine-developmental and epileptic encephalopathy spectrum",1,"single"],["d","MONDO:0100540","GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes",1,"agreed"],["d","MONDO:0100545","hereditary neurological disease",3,"single"],["d","MONDO:0100547","cardiogenetic disease",1,"single"],["d","MONDO:0100556","PRRT2-associated paroxysmal movement disorder",1,"agreed"],["d","MONDO:0100557","RBFOX2-related congenital heart disorder",1,"single"],["d","MONDO:0100558","RNU4ATAC spectrum disorder",1,"graded_apart"],["d","MONDO:0100561","HBA1-related alpha thalassemia spectrum",1,"single"],["d","MONDO:0100562","HBA2-related alpha thalassemia spectrum",1,"single"],["d","MONDO:0100569","ACD-related short telomere syndrome",1,"agreed"],["d","MONDO:0100571","CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy",1,"single"],["d","MONDO:0100574","generalized epilepsy",1,"single"],["d","MONDO:0100575","genetic generalized epilepsy",1,"single"],["d","MONDO:0100578","FANCM Fanconi-like genomic instability disorder",1,"single"],["d","MONDO:0100579","GRHL3-related orofacial clefting",1,"single"],["d","MONDO:0100582","TOR1AIP1-related myopathy",1,"single"],["d","MONDO:0100584","SNUPN-related muscular dystrophy with or without multi-system involvement",1,"single"],["d","MONDO:0100586","B3GALT6-related congenital disorder of glycosylation",1,"agreed"],["d","MONDO:0100587","A4GALT-related congenital disorder of glycosylation",1,"single"],["d","MONDO:0100591","TOR1AIP1-related multisystem disorder",1,"single"],["d","MONDO:0100592","SLC26A2-related skeletal dysplasia",1,"agreed"],["d","MONDO:0100593","COMP-related skeletal dysplasia",1,"agreed"],["d","MONDO:0100596","COL1A2-related osteogenesis imperfecta",1,"single"],["d","MONDO:0100597","intellectual disability, autosomal recessive",1,"disputed"],["d","MONDO:0100599","COL1A1-related Ehlers-Danlos syndrome",1,"single"],["d","MONDO:0100602","COL2A1-related spondyloepiphyseal dysplasia",1,"single"],["d","MONDO:0100603","FAT4-related neurodevelopmental disorder",1,"agreed"],["d","MONDO:0100606","COL1A2-related Ehlers-Danlos syndrome",1,"single"],["d","MONDO:0100607","ciliary dyskinesia, primary, 54",1,"single"],["d","MONDO:0100608","ALPL-related autosomal dominant hypophosphatasia",1,"single"],["d","MONDO:0100609","ALPL-related autosomal recessive hypophosphatasia",1,"single"],["d","MONDO:0100613","BMP4-related ocular growth disorder",1,"single"],["d","MONDO:0100614","syndromic congenital heart disease",1,"single"],["d","MONDO:0100617","VPS11-related neurological disorder",1,"single"],["d","MONDO:0100620","developmental and epileptic encephalopathy",5,"single"],["d","MONDO:0100626","SOX11-related complex neurodevelopmental disorder with or without congenital anomalies",1,"single"],["d","MONDO:0100628","SAMD9-related spectrum and myeloid neoplasm risk",1,"single"],["d","MONDO:0550003","SEC61B-related polycystic liver disease",1,"single"],["d","MONDO:0600001","glutaminase deficiency",1,"graded_apart"],["d","MONDO:0600018","acinar dysplasia caused by mutation in FGFR2",1,"single"],["d","MONDO:0700000","ALG9-associated autosomal dominant polycystic kidney disease",1,"agreed"],["d","MONDO:0700002","ATP1A3-associated neurological disorder",1,"agreed"],["d","MONDO:0700041","neuroblastoma, susceptibility to, 2",1,"agreed"],["d","MONDO:0700054","microcephaly 6 with or without short stature",1,"single"],["d","MONDO:0700066","myopathy caused by variation in FKRP",1,"agreed"],["d","MONDO:0700067","myopathy caused by variation in FKTN",1,"agreed"],["d","MONDO:0700068","myopathy caused by variation in POMGNT1",1,"agreed"],["d","MONDO:0700069","myopathy caused by variation in POMGNT2",1,"agreed"],["d","MONDO:0700070","myopathy caused by variation in POMT1",1,"agreed"],["d","MONDO:0700071","myopathy caused by variation in POMT2",1,"agreed"],["d","MONDO:0700080","EPHB4-associated vascular malformation spectrum",1,"agreed"],["d","MONDO:0700084","myopathy caused by variation in GMPPB",1,"agreed"],["d","MONDO:0700087","Usher syndrome type 1B",1,"agreed"],["d","MONDO:0700089","paroxysmal nonkinesigenic dyskinesia 1",1,"single"],["d","MONDO:0700090","epilepsy, familial temporal lobe, 1",1,"single"],["d","MONDO:0700092","neurodevelopmental disorder",312,"disputed"],["d","MONDO:0700112","heterotaxy, visceral, 5, autosomal",1,"graded_apart"],["d","MONDO:0700116","microcephaly with lissencephaly and/or hydranencephaly",1,"agreed"],["d","MONDO:0700117","SLC6A3-related dopamine transporter deficiency syndrome",1,"single"],["d","MONDO:0700121","ACTL6A-related BAFopathy",1,"agreed"],["d","MONDO:0700123","SMARCC1-associated developmental dysgenesis syndrome",1,"agreed"],["d","MONDO:0700223","hereditary skeletal muscle disorder",2,"single"],["d","MONDO:0700224","PDE6A-related retinopathy",1,"single"],["d","MONDO:0700227","ELOVL4-related maculopathy",1,"agreed"],["d","MONDO:0700228","LRP5-related exudative vitreoretinopathy",1,"agreed"],["d","MONDO:0700229","MAK-related retinopathy",1,"single"],["d","MONDO:0700230","GPR143-related foveal hypoplasia",1,"agreed"],["d","MONDO:0700231","TSPAN12-related exudative vitreoretinopathy",1,"single"],["d","MONDO:0700232","KIZ-related retinopathy",1,"single"],["d","MONDO:0700233","TOPORS-related retinopathy",1,"single"],["d","MONDO:0700234","PRPF8-related retinopathy",1,"single"],["d","MONDO:0700235","RD3-related retinopathy",1,"single"],["d","MONDO:0700236","BBS9-related ciliopathy",1,"single"],["d","MONDO:0700237","BBS10-related ciliopathy",1,"single"],["d","MONDO:0700238","BEST1-related dominant retinopathy",1,"single"],["d","MONDO:0700241","IMPG2-related recessive retinopathy",1,"single"],["d","MONDO:0700243","CACNA1F-related retinopathy",1,"single"],["d","MONDO:0700244","CACNA2D4-related retinopathy",1,"single"],["d","MONDO:0700245","epidermolytic hyperkeratosis 2B, autosomal recessive",1,"graded_apart"],["d","MONDO:0700246","ocular dysgenesis caused by defects in PAX6 regulation",1,"single"],["d","MONDO:0700247","RAB18 deficiency",1,"single"],["d","MONDO:0700248","epidermolytic hyperkeratosis 2A, autosomal dominant",1,"agreed"],["d","MONDO:0700250","mitochondrial complex IV deficiency, nuclear type 1",2,"agreed"],["d","MONDO:0700256","TREX1-related type 1 interferonopathy",1,"single"],["d","MONDO:0700257","RNASEH2B-related type 1 interferonopathy",1,"single"],["d","MONDO:0700258","RNASEH2C-related type 1 interferonopathy",1,"single"],["d","MONDO:0700259","RNASEH2A-related type 1 interferonopathy",1,"single"],["d","MONDO:0700260","SAMHD1-related type 1 interferonopathy",1,"single"],["d","MONDO:0700261","ADAR-related type 1 interferonopathy",1,"single"],["d","MONDO:0700262","IFIH1-related type 1 interferonopathy",1,"single"],["d","MONDO:0700263","RNU7-1-related type 1 interferonopathy",1,"single"],["d","MONDO:0700267","BARD1-related cancer predisposition",1,"single"],["d","MONDO:0700268","BRCA1-related cancer predisposition",1,"single"],["d","MONDO:0700269","BRCA2-related cancer predisposition",1,"single"],["d","MONDO:0700270","ATM-related cancer predisposition",1,"single"],["d","MONDO:0700271","CHEK2-related cancer predisposition",1,"agreed"],["d","MONDO:0700272","PALB2-related cancer predisposition",1,"single"],["d","MONDO:0700273","RAD51C-related cancer predisposition",1,"single"],["d","MONDO:0700274","RAD51D-related cancer predisposition",1,"single"],["d","MONDO:0700276","POLR3A-related disorder",1,"agreed"],["d","MONDO:0700277","POLR3B-related disorder",1,"single"],["d","MONDO:0700278","POLR1C-related disorder",1,"single"],["d","MONDO:0700281","MYH10-related neurodevelopmental disorder with congenital anomalies",1,"single"],["d","MONDO:0700286","leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical",1,"single"],["d","MONDO:0700288","early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy",1,"single"],["d","MONDO:0700295","leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical",1,"single"],["d","MONDO:0700300","achalasia-progeroid syndrome",1,"single"],["d","MONDO:0700307","spastic paraplegia 30A, autosomal dominant",1,"single"],["d","MONDO:0700309","spastic paraplegia 18b, autosomal recessive",1,"agreed"],["d","MONDO:0700324","SMAD6-related disease",1,"single"],["d","MONDO:0700337","renal tubular dysgenesis - ACE",1,"single"],["d","MONDO:0700338","autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant",1,"single"],["d","MONDO:0700342","monilethrix-3",1,"single"],["d","MONDO:0700343","monilethrix-1",2,"graded_apart"],["d","MONDO:0700344","CEP164-related ciliopathy",1,"single"],["d","MONDO:0700349","ACTN2-related cardiac and skeletal myopathy",1,"agreed"],["d","MONDO:0700350","GRIN2B-related complex neurodevelopmental disorder",1,"single"],["d","MONDO:0700354","HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome",1,"single"],["d","MONDO:0700360","KCNK3-related developmental delay with sleep apnea",1,"single"],["d","MONDO:0700372","AFG3L2-related optic atrophy and/or spastic ataxia spectrum",1,"single"],["d","MONDO:0700380","RHO-related retinopathy",1,"single"],["d","MONDO:0700385","Camurati-Engelmann disease type 1",1,"single"],["d","MONDO:0700388","cardiac conduction disease with or without dilated cardiomyopathy 1",1,"single"],["d","MONDO:0800001","delayed sleep phase syndrome, susceptibility to",1,"single"],["d","MONDO:0800025","Teebi hypertelorism syndrome 1",1,"agreed"],["d","MONDO:0800026","central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease",2,"agreed"],["d","MONDO:0800027","leukoencephalopathy, diffuse hereditary, with spheroids 1",1,"agreed"],["d","MONDO:0800028","dyskinesia with orofacial involvement, autosomal dominant",1,"single"],["d","MONDO:0800029","interstitial lung disease 2",1,"graded_apart"],["d","MONDO:0800030","gastrointestinal defects and immunodeficiency syndrome 1",1,"agreed"],["d","MONDO:0800042","restrictive dermopathy 1",1,"agreed"],["d","MONDO:0800043","Stüve-Wiedemann syndrome 1",1,"agreed"],["d","MONDO:0800044","congenital disorder of deglycosylation 1",1,"agreed"],["d","MONDO:0800045","autoinflammatory syndrome, familial, Behcet-like 1",1,"agreed"],["d","MONDO:0800046","thyroid hormone metabolism, abnormal 1",1,"agreed"],["d","MONDO:0800047","macrothrombocytopenia, isolated, 1, autosomal dominant",1,"graded_apart"],["d","MONDO:0800085","dysostosis with predominant craniofacial involvement",1,"single"],["d","MONDO:0800096","abnormal mineralization disorder",1,"single"],["d","MONDO:0800098","SNRNP200-related dominant retinopathy",1,"single"],["d","MONDO:0800099","RDH12-related recessive retinopathy",1,"agreed"],["d","MONDO:0800100","RDH12-related dominant retinopathy",1,"graded_apart"],["d","MONDO:0800101","NMNAT1-related retinopathy",1,"agreed"],["d","MONDO:0800102","CNGA3-related retinopathy",1,"single"],["d","MONDO:0800103","COACH syndrome 1",1,"single"],["d","MONDO:0800104","immunodeficiency 105",1,"single"],["d","MONDO:0800128","combined immunodeficiency due to POLE2 deficiency",1,"single"],["d","MONDO:0800129","autoinflammatory disease, X-linked",1,"single"],["d","MONDO:0800130","autoinflammatory syndrome with immunodeficiency",1,"agreed"],["d","MONDO:0800131","hyper-IgE recurrent infection syndrome 4A, autosomal dominant",1,"agreed"],["d","MONDO:0800132","autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency",1,"agreed"],["d","MONDO:0800136","non-severe combined immunodeficiency due to COPG1 deficiency",1,"single"],["d","MONDO:0800139","HELIOS deficiency",1,"graded_apart"],["d","MONDO:0800140","ITPKB deficiency",1,"single"],["d","MONDO:0800141","MAN2B2 deficiency",1,"agreed"],["d","MONDO:0800145","non-severe combined immunodeficiency due to polymerase delta deficiency",2,"graded_apart"],["d","MONDO:0800147","hemophagocytic lymphohistiocytosis due to RhoG deficiency",1,"single"],["d","MONDO:0800167","Knobloch syndrome 1",1,"agreed"],["d","MONDO:0800174","encephalitis, acute, infection-induced, susceptibility to",1,"single"],["d","MONDO:0800180","CPOX-related hereditary coproporphyria",1,"single"],["d","MONDO:0800181","OPA1-related optic atrophy with or without extraocular features",1,"agreed"],["d","MONDO:0800182","TEK-related primary glaucoma",1,"single"],["d","MONDO:0800183","PAX6-related ocular dysgenesis",1,"agreed"],["d","MONDO:0800187","immunodeficiency 83, susceptibility to viral infections",1,"disputed"],["d","MONDO:0800188","malignant hyperthermia, susceptibility to",1,"single"],["d","MONDO:0800209","fibrosis of extraocular muscles, congenital, 3b",1,"single"],["d","MONDO:0800312","wooly hair, autosomal recessive 1, with or without hypotrichosis",1,"single"],["d","MONDO:0800326","cone-rod dystrophy 14",1,"single"],["d","MONDO:0800341","congenital myopathy 4A, autosomal dominant",2,"agreed"],["d","MONDO:0800352","retinitis pigmentosa 65",1,"single"],["d","MONDO:0800391","EYS-related retinopathy",1,"single"],["d","MONDO:0800392","GNAT2-related retinopathy",1,"single"],["d","MONDO:0800393","IDH3B-related retinopathy",1,"single"],["d","MONDO:0800394","MERTK-related retinopathy",1,"single"],["d","MONDO:0800395","PRPF31-related retinopathy",1,"single"],["d","MONDO:0800396","GPR179-related retinopathy",1,"single"],["d","MONDO:0800397","GRM6-related retinopathy",1,"single"],["d","MONDO:0800398","ADAM9-related retinopathy",1,"single"],["d","MONDO:0800399","RP1-related recessive retinopathy",1,"agreed"],["d","MONDO:0800400","RP1-related dominant retinopathy",1,"agreed"],["d","MONDO:0800401","CERKL-related retinopathy",1,"single"],["d","MONDO:0800402","TRPM1-related retinopathy",1,"single"],["d","MONDO:0800403","CNGB1-related retinopathy",1,"single"],["d","MONDO:0800404","PCARE-related retinopathy",1,"single"],["d","MONDO:0800405","CNGA1-related retinopathy",1,"single"],["d","MONDO:0800406","ABCA4-related retinopathy",1,"agreed"],["d","MONDO:0800407","NYX-related retinopathy",1,"single"],["d","MONDO:0800436","craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",1,"agreed"],["d","MONDO:0800437","Carey-Fineman-Ziter syndrome 1",1,"agreed"],["d","MONDO:0800438","developmental delay with short stature, dysmorphic facial features, and sparse hair 1",1,"agreed"],["d","MONDO:0800439","syndromic complex neurodevelopmental disorder",22,"single"],["d","MONDO:0800441","NKX2.5-related congenital, conduction and myopathic heart disease",1,"agreed"],["d","MONDO:0800442","MYH-6 related congenital heart defects",1,"single"],["d","MONDO:0800444","Birt-Hogg-Dube syndrome",1,"single"],["d","MONDO:0800445","Birt-Hogg-Dube syndrome 1",1,"agreed"],["d","MONDO:0800447","bleeding disorder, platelet-type, 13, susceptibility to",1,"single"],["d","MONDO:0800448","leukoencephalopathy with vanishing white matter",1,"single"],["d","MONDO:0800449","lysosomal acid lipase deficiency",1,"agreed"],["d","MONDO:0800452","congenital amegakaryocytic thrombocytopenia 1",1,"agreed"],["d","MONDO:0800455","Birt-Hogg-Dube syndrome 2",1,"agreed"],["d","MONDO:0800456","SYNCRIP-related neurodevelopmental disorder",1,"disputed"],["d","MONDO:0800458","NR2F2 related multiple congenital anomalies/dysmorphic syndrome",1,"single"],["d","MONDO:0800460","ASAH1-related disorders",1,"single"],["d","MONDO:0800461","COL4A1-related disorder",1,"single"],["d","MONDO:0800462","FHL1-related myopathy",1,"single"],["d","MONDO:0800466","disorder of GNAS inactivation",1,"single"],["d","MONDO:0800467","dyskeratosis congenita and related telomere biology disorder",3,"single"],["d","MONDO:0800470","TUBB4A-related neurologic disorder",1,"graded_apart"],["d","MONDO:0800472","CYP1B1-related glaucoma with or without anterior segment dysgenesis",1,"agreed"],["d","MONDO:0800474","SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder",1,"single"],["d","MONDO:0800475","NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability",1,"single"],["d","MONDO:0800476","HAND2 related congenital heart defect",1,"single"],["d","MONDO:0800477","SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth",1,"agreed"],["d","MONDO:0800483","SF3B4-related acrofacial dysostosis",1,"single"],["d","MONDO:0800484","PRKAG2-related cardiomyopathy",1,"single"],["d","MONDO:0800497","interstitial lung disease 2",2,"agreed"],["d","MONDO:0800503","TMEM63B-related developmental and epileptic encephalopathy with anemia",1,"single"],["d","MONDO:0800504","idiopathic pulmonary fibrosis",1,"single"],["d","MONDO:0850098","oligoasthenoteratozoospermia",1,"single"],["d","MONDO:0850514","inclusion body myopathy and brain white matter abnormalities",1,"graded_apart"],["d","MONDO:0851095","KINSSHIP syndrome",1,"agreed"],["d","MONDO:0859003","PAICS deficiency",1,"agreed"],["d","MONDO:0859080","intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies",1,"agreed"],["d","MONDO:0859083","systemic lupus erythematosus 17",1,"agreed"],["d","MONDO:0859085","neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked",1,"graded_apart"],["d","MONDO:0859086","intellectual developmental disorder, X-linked 110",1,"single"],["d","MONDO:0859136","Alzahrani-Kuwahara syndrome",1,"graded_apart"],["d","MONDO:0859137","neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia",1,"agreed"],["d","MONDO:0859139","blepharophimosis-impaired intellectual development syndrome",1,"single"],["d","MONDO:0859141","neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia",1,"graded_apart"],["d","MONDO:0859142","Hiatt-Neu-Cooper neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0859143","Radio-Tartaglia syndrome",1,"agreed"],["d","MONDO:0859144","Buratti-Harel syndrome",1,"agreed"],["d","MONDO:0859146","growth restriction, hypoplastic kidneys, alopecia, and distinctive facies",1,"single"],["d","MONDO:0859147","Marbach-Rustad progeroid syndrome",1,"disputed"],["d","MONDO:0859148","neurodevelopmental disorder with seizures and gingival overgrowth",1,"agreed"],["d","MONDO:0859149","hypertriglyceridemia 2",1,"disputed"],["d","MONDO:0859150","BDV syndrome",1,"single"],["d","MONDO:0859152","neurodevelopmental disorder with cerebellar atrophy and motor dysfunction",1,"agreed"],["d","MONDO:0859154","Bartsocas-Papas syndrome 2",1,"agreed"],["d","MONDO:0859156","dysostosis multiplex, Ain-Naz type",1,"disputed"],["d","MONDO:0859157","visceral myopathy 2",1,"agreed"],["d","MONDO:0859158","ataxia, intention tremor, and hypotonia syndrome, childhood-onset",1,"agreed"],["d","MONDO:0859159","deafness, cataract, impaired intellectual development, and polyneuropathy",1,"graded_apart"],["d","MONDO:0859160","mitochondrial complex IV deficiency, nuclear type 22",1,"disputed"],["d","MONDO:0859161","onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome",1,"agreed"],["d","MONDO:0859162","neurodevelopmental disorder with infantile epileptic spasms",1,"agreed"],["d","MONDO:0859163","Faundes-Banka syndrome",1,"graded_apart"],["d","MONDO:0859164","osteootohepatoenteric syndrome",1,"agreed"],["d","MONDO:0859165","neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities",1,"agreed"],["d","MONDO:0859167","hypokalemic tubulopathy and deafness",1,"graded_apart"],["d","MONDO:0859168","myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy",1,"single"],["d","MONDO:0859169","White-Kernohan syndrome",1,"agreed"],["d","MONDO:0859170","retinal dystrophy and microvillus inclusion disease",1,"agreed"],["d","MONDO:0859171","Luo-Schoch-Yamamoto syndrome",1,"graded_apart"],["d","MONDO:0859173","sick sinus syndrome 4",1,"single"],["d","MONDO:0859174","Usmani-Riazuddin syndrome, autosomal dominant",1,"agreed"],["d","MONDO:0859175","nephronophthisis-like nephropathy 2",1,"agreed"],["d","MONDO:0859176","neurodevelopmental disorder with motor and speech delay and behavioral abnormalities",1,"agreed"],["d","MONDO:0859177","VISS syndrome",1,"agreed"],["d","MONDO:0859178","developmental delay, impaired speech, and behavioral abnormalities",1,"agreed"],["d","MONDO:0859179","neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",1,"disputed"],["d","MONDO:0859180","bile acid malabsorption, primary, 2",1,"agreed"],["d","MONDO:0859181","DEGCAGS syndrome",1,"graded_apart"],["d","MONDO:0859182","Short stature, Dauber-Argente type",1,"graded_apart"],["d","MONDO:0859183","Parkinson disease 24, autosomal dominant, susceptibility to",1,"disputed"],["d","MONDO:0859184","ventriculomegaly and arthrogryposis",1,"agreed"],["d","MONDO:0859185","neurodevelopmental disorder with hypotonia and dysmorphic facies",1,"agreed"],["d","MONDO:0859186","Chopra-Amiel-Gordon syndrome",1,"agreed"],["d","MONDO:0859187","neurodevelopmental disorder with hypotonia and brain abnormalities",1,"graded_apart"],["d","MONDO:0859188","neurodevelopmental disorder with seizures and brain abnormalities",1,"agreed"],["d","MONDO:0859189","muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome",1,"agreed"],["d","MONDO:0859190","neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities",1,"agreed"],["d","MONDO:0859191","biliary, renal, neurologic, and skeletal syndrome",1,"agreed"],["d","MONDO:0859193","neuroocular syndrome",1,"agreed"],["d","MONDO:0859194","Boudin-Mortier syndrome",1,"agreed"],["d","MONDO:0859196","Usmani-Riazuddin syndrome, autosomal recessive",1,"disputed"],["d","MONDO:0859197","intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",1,"disputed"],["d","MONDO:0859198","short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies",1,"disputed"],["d","MONDO:0859199","developmental delay with or without intellectual impairment or behavioral abnormalities",1,"agreed"],["d","MONDO:0859200","cerebellar ataxia, brain abnormalities, and cardiac conduction defects",1,"agreed"],["d","MONDO:0859201","neurodevelopmental disorder with impaired language and ataxia and with or without seizures",1,"agreed"],["d","MONDO:0859202","developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities",1,"agreed"],["d","MONDO:0859203","rhizomelic dysplasia, Ain-Naz type",1,"single"],["d","MONDO:0859204","fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies",1,"graded_apart"],["d","MONDO:0859205","delayed puberty, self-limited",2,"single"],["d","MONDO:0859206","neurodevelopmental disorder with hearing loss and spasticity",1,"graded_apart"],["d","MONDO:0859207","neurodevelopmental disorder with hypotonia and gross motor and speech delay",1,"agreed"],["d","MONDO:0859208","Hengel-Maroofian-Schols syndrome",1,"agreed"],["d","MONDO:0859209","Zaki syndrome",1,"disputed"],["d","MONDO:0859211","neurodevelopmental disorder with hyperkinetic movements and dyskinesia",1,"single"],["d","MONDO:0859212","neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus",1,"agreed"],["d","MONDO:0859213","congenital heart defects, multiple types, 8, with or without heterotaxy",1,"disputed"],["d","MONDO:0859214","Marbach-Schaaf neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0859215","dystonia, early-onset, and/or spastic paraplegia",1,"graded_apart"],["d","MONDO:0859216","neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis",1,"disputed"],["d","MONDO:0859217","Brunet-Wagner neurodevelopmental syndrome",1,"agreed"],["d","MONDO:0859218","developmental delay with variable neurologic and brain abnormalities",1,"disputed"],["d","MONDO:0859219","Rauch-Steindl syndrome",1,"agreed"],["d","MONDO:0859220","Ferguson-Bonni neurodevelopmental syndrome",1,"graded_apart"],["d","MONDO:0859221","Yoon-Bellen neurodevelopmental syndrome",1,"graded_apart"],["d","MONDO:0859223","congenital disorder of glycosylation, type Iw, autosomal dominant",1,"graded_apart"],["d","MONDO:0859224","intellectual disability and myopathy syndrome",1,"disputed"],["d","MONDO:0859225","neurodevelopmental disorder with or without variable movement or behavioral abnormalities",1,"graded_apart"],["d","MONDO:0859226","craniotubular dysplasia, Ikegawa type",1,"single"],["d","MONDO:0859228","combined oxidative phosphorylation deficiency 55",1,"disputed"],["d","MONDO:0859229","cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism",1,"disputed"],["d","MONDO:0859230","Kury-Isidor syndrome",1,"graded_apart"],["d","MONDO:0859231","macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin",1,"graded_apart"],["d","MONDO:0859232","neurodevelopmental disorder with central hypotonia and dysmorphic facies",1,"disputed"],["d","MONDO:0859233","epidermolysis bullosa, junctional 6, with pyloric atresia",1,"single"],["d","MONDO:0859234","agammaglobulinemia 8b, autosomal recessive",1,"single"],["d","MONDO:0859235","auditory neuropathy, autosomal dominant 3",1,"agreed"],["d","MONDO:0859236","neurodevelopmental disorder with neuromuscular and skeletal abnormalities",1,"graded_apart"],["d","MONDO:0859239","Chilton-Okur-Chung neurodevelopmental syndrome",1,"disputed"],["d","MONDO:0859240","intellectual developmental disorder with or without peripheral neuropathy",1,"disputed"],["d","MONDO:0859241","neurodegeneration, childhood-onset, with progressive microcephaly",1,"agreed"],["d","MONDO:0859242","leukodystrophy, hypomyelinating, 24",1,"disputed"],["d","MONDO:0859243","neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities",1,"graded_apart"],["d","MONDO:0859245","spinocerebellar ataxia, autosomal recessive 32",1,"graded_apart"],["d","MONDO:0859246","leukodystrophy, childhood-onset, remitting",1,"single"],["d","MONDO:0859247","neurocardiofaciodigital syndrome",1,"disputed"],["d","MONDO:0859248","corneal dystrophy, punctiform and polychromatic pre-descemet",1,"single"],["d","MONDO:0859249","parenti-mignot neurodevelopmental syndrome",1,"disputed"],["d","MONDO:0859250","neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures",1,"graded_apart"],["d","MONDO:0859251","Dentici-Novelli neurodevelopmental syndrome",1,"disputed"],["d","MONDO:0859252","neurodevelopmental disorder with poor growth and skeletal anomalies",1,"agreed"],["d","MONDO:0859253","osteoporosis, childhood- or juvenile-onset, with developmental delay",1,"graded_apart"],["d","MONDO:0859254","hepatorenocardiac degenerative fibrosis",1,"graded_apart"],["d","MONDO:0859255","peripheral motor neuropathy, childhood-onset, biotin-responsive",1,"single"],["d","MONDO:0859256","neurodevelopmental disorder with language delay and seizures",1,"disputed"],["d","MONDO:0859257","intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism",1,"agreed"],["d","MONDO:0859258","neurodevelopmental disorder with dystonia and seizures",1,"agreed"],["d","MONDO:0859260","Dworschak-Punetha neurodevelopmental syndrome",1,"disputed"],["d","MONDO:0859262","ACCES syndrome",1,"agreed"],["d","MONDO:0859263","developmental delay, impaired speech, and behavioral abnormalities, with or without seizures",1,"agreed"],["d","MONDO:0859264","congenital myopathy 11",1,"single"],["d","MONDO:0859265","neurodevelopmental disorder with epilepsy and brain atrophy",1,"graded_apart"],["d","MONDO:0859266","neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy",1,"disputed"],["d","MONDO:0859267","tumor predisposition syndrome 2",1,"graded_apart"],["d","MONDO:0859271","glycosylphosphatidylinositol biosynthesis defect 25",1,"agreed"],["d","MONDO:0859272","neurodevelopmental disorder with speech delay and variable ocular anomalies",1,"graded_apart"],["d","MONDO:0859273","liver disease, severe congenital",1,"graded_apart"],["d","MONDO:0859275","neurodevelopmental disorder with spasticity, seizures, and brain abnormalities",1,"graded_apart"],["d","MONDO:0859276","primordial dwarfism-immunodeficiency-lipodystrophy syndrome",1,"disputed"],["d","MONDO:0859277","intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects",1,"agreed"],["d","MONDO:0859278","keratoderma-ichthyosis-deafness syndrome, autosomal recessive",1,"single"],["d","MONDO:0859279","spinal muscular atrophy, distal, autosomal recessive, 6",1,"disputed"],["d","MONDO:0859280","developmental delay, hypotonia, and impaired language",1,"graded_apart"],["d","MONDO:0859281","intellectual developmental disorder with autism and dysmorphic facies",1,"disputed"],["d","MONDO:0859282","neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures",1,"disputed"],["d","MONDO:0859283","neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities",1,"disputed"],["d","MONDO:0859285","neurodevelopmental disorder with microcephaly, short stature, and speech delay",1,"disputed"],["d","MONDO:0859286","neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",1,"single"],["d","MONDO:0859287","neurodevelopmental disorder with microcephaly, hypotonia, and absent language",1,"agreed"],["d","MONDO:0859288","bone marrow failure and diabetes mellitus syndrome",1,"agreed"],["d","MONDO:0859289","intestinal dysmotility syndrome",1,"graded_apart"],["d","MONDO:0859292","developmental delay, behavioral abnormalities, and neuropsychiatric disorders",1,"graded_apart"],["d","MONDO:0859293","neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment",1,"disputed"],["d","MONDO:0859295","neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",1,"disputed"],["d","MONDO:0859296","neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",1,"agreed"],["d","MONDO:0859297","neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities",1,"agreed"],["d","MONDO:0859298","neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly",1,"agreed"],["d","MONDO:0859300","neuronopathy, distal hereditary motor, autosomal dominant 10",1,"graded_apart"],["d","MONDO:0859301","neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects",1,"agreed"],["d","MONDO:0859302","hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2",2,"single"],["d","MONDO:0859303","intellectual developmental disorder with ocular anomalies and distinctive facial features",1,"graded_apart"],["d","MONDO:0859304","neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction",1,"graded_apart"],["d","MONDO:0859305","neurodevelopmental disorder with eye movement abnormalities and ataxia",1,"graded_apart"],["d","MONDO:0859306","developmental delay with variable intellectual disability and dysmorphic facies",1,"agreed"],["d","MONDO:0859307","cleidocranial dysplasia 2",1,"disputed"],["d","MONDO:0859308","retinitis pigmentosa 95",1,"disputed"],["d","MONDO:0859309","spastic paraplegia 88, autosomal dominant",1,"graded_apart"],["d","MONDO:0859310","orofaciodigital syndrome 19",1,"disputed"],["d","MONDO:0859311","Charcot-Marie-Tooth disease, demyelinating, type 1J",1,"disputed"],["d","MONDO:0859312","neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities",1,"graded_apart"],["d","MONDO:0859313","neurodevelopmental disorder with speech impairment and with or without seizures",1,"single"],["d","MONDO:0859314","developmental and epileptic encephalopathy 108",1,"graded_apart"],["d","MONDO:0859316","iron overload, susceptibility to",1,"graded_apart"],["d","MONDO:0859317","pseudohypoaldosteronism, type IB2, autosomal recessive",1,"single"],["d","MONDO:0859319","dyskeratosis congenita, autosomal recessive 8",1,"disputed"],["d","MONDO:0859320","mitochondrial complex I deficiency, nuclear type 39",1,"graded_apart"],["d","MONDO:0859321","mitochondrial complex III deficiency, nuclear type 11",1,"graded_apart"],["d","MONDO:0859322","myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1",1,"agreed"],["d","MONDO:0859323","combined oxidative phosphorylation deficiency 56",1,"disputed"],["d","MONDO:0859324","developmental delay, language impairment, and ocular abnormalities",1,"graded_apart"],["d","MONDO:0859325","developmental and epileptic encephalopathy 109",1,"graded_apart"],["d","MONDO:0859327","developmental and epileptic encephalopathy 110",1,"agreed"],["d","MONDO:0859328","hypomagnesemia 7, renal, with or without dilated cardiomyopathy",1,"graded_apart"],["d","MONDO:0859329","mosaic variegated aneuploidy syndrome 4",1,"single"],["d","MONDO:0859330","oocyte maturation defect 13",2,"single"],["d","MONDO:0859331","Rabin-Pappas syndrome",1,"graded_apart"],["d","MONDO:0859332","cortical dysplasia, complex, with other brain malformations 11",1,"graded_apart"],["d","MONDO:0859333","intellectual developmental disorder, autosomal dominant 70",1,"single"],["d","MONDO:0859334","spinocerebellar ataxia 50",1,"graded_apart"],["d","MONDO:0859335","congenital myopathy 15",1,"disputed"],["d","MONDO:0859336","muscular dystrophy, congenital, with or without seizures",1,"disputed"],["d","MONDO:0859337","combined oxidative phosphorylation deficiency 57",1,"disputed"],["d","MONDO:0859339","tooth agenesis, selective, 10",1,"single"],["d","MONDO:0859341","hypotrichosis 15",1,"disputed"],["d","MONDO:0859342","microcephaly 30, primary, autosomal recessive",1,"graded_apart"],["d","MONDO:0859345","branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome",1,"single"],["d","MONDO:0859346","mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",1,"single"],["d","MONDO:0859347","neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities",1,"agreed"],["d","MONDO:0859350","neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies",1,"graded_apart"],["d","MONDO:0859352","spermatogenic failure 79",1,"single"],["d","MONDO:0859353","ciliary dyskinesia, primary, 49, without situs inversus",1,"graded_apart"],["d","MONDO:0859354","thyroid hormone metabolism, abnormal, 3",1,"single"],["d","MONDO:0859355","inflammatory poikiloderma with hair abnormalities and acral keratoses",1,"graded_apart"],["d","MONDO:0859356","congenital disorder of glycosylation, type IIy",1,"agreed"],["d","MONDO:0859357","congenital disorder of glycosylation, type IIz",1,"agreed"],["d","MONDO:0859358","cardiomyopathy, dilated, 2H",1,"single"],["d","MONDO:0859361","neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia",1,"disputed"],["d","MONDO:0859362","hyperinsulinemic hypoglycemia, familial, 8",1,"disputed"],["d","MONDO:0859363","spastic paraplegia 79A, autosomal dominant, with ataxia",1,"graded_apart"],["d","MONDO:0859364","spermatogenic failure 80",1,"single"],["d","MONDO:0859365","neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures",1,"agreed"],["d","MONDO:0859366","hearing loss, autosomal dominant 85",1,"disputed"],["d","MONDO:0859367","retinitis pigmentosa 96",1,"single"],["d","MONDO:0859368","short QT syndrome 7",1,"graded_apart"],["d","MONDO:0859369","joint contractures, osteochondromas, and B-cell lymphoma",1,"agreed"],["d","MONDO:0859370","respiratory infections, recurrent, and failure to thrive with or without diarrhea",1,"graded_apart"],["d","MONDO:0859371","rhabdomyolysis, susceptibility to, 1",1,"single"],["d","MONDO:0859372","cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies",1,"graded_apart"],["d","MONDO:0859373","intellectual developmental disorder, autosomal recessive 78",1,"disputed"],["d","MONDO:0859374","hearing loss, autosomal recessive 120",1,"disputed"],["d","MONDO:0859375","developmental delay with hypotonia, myopathy, and brain abnormalities",1,"agreed"],["d","MONDO:0859376","hydrocephalus, congenital, 5, susceptibility to",1,"graded_apart"],["d","MONDO:0859377","neurodevelopmental disorder with poor growth and behavioral abnormalities",1,"graded_apart"],["d","MONDO:0859378","leukodystrophy, hypomyelinating, 25",1,"graded_apart"],["d","MONDO:0859379","lymphatic malformation 13",1,"agreed"],["d","MONDO:0859380","episodic kinesigenic dyskinesia 3",1,"graded_apart"],["d","MONDO:0859381","cardiomyopathy, dilated, 100",1,"agreed"],["d","MONDO:0859382","cataract 50 with or without glaucoma",1,"graded_apart"],["d","MONDO:0859477","spermatogenic failure, X-linked, 5",1,"single"],["d","MONDO:0859478","spermatogenic failure, X-linked, 6",1,"single"],["d","MONDO:0859514","congenital myopathy 18",1,"single"],["d","MONDO:0859516","neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum",1,"disputed"],["d","MONDO:0859518","leukodystrophy, hypomyelinating, 26, with chondrodysplasia",1,"graded_apart"],["d","MONDO:0859519","neurodevelopmental disorder with absent speech and movement and behavioral abnormalities",1,"disputed"],["d","MONDO:0859520","mitochondrial complex IV deficiency, nuclear type 23",1,"agreed"],["d","MONDO:0859521","oocyte maturation defect 14",1,"single"],["d","MONDO:0859522","spermatogenic failure 81",1,"single"],["d","MONDO:0859523","congenital myopathy 2c, severe infantile, autosomal dominant",1,"single"],["d","MONDO:0859525","hearing loss, autosomal dominant 87",1,"single"],["d","MONDO:0859526","immunodeficiency 109 with lymphoproliferation",1,"graded_apart"],["d","MONDO:0859527","hearing loss, autosomal dominant 88",1,"agreed"],["d","MONDO:0859528","hearing loss, autosomal dominant 89",1,"agreed"],["d","MONDO:0859529","amyotrophic lateral sclerosis 27, juvenile",1,"agreed"],["d","MONDO:0859530","myopathy, sarcoplasmic body",1,"agreed"],["d","MONDO:0859531","neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures",1,"agreed"],["d","MONDO:0859532","congenital heart defects, multiple types, 9",1,"disputed"],["d","MONDO:0859564","epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features",1,"agreed"],["d","MONDO:0859567","craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",1,"single"],["d","MONDO:0859568","macular dystrophy, retinal, 4",1,"single"],["d","MONDO:0859570","braddock-carey syndrome 2",1,"agreed"],["d","MONDO:0859571","diaphragmatic hernia 4, with cardiovascular defects",1,"agreed"],["d","MONDO:0859572","cardiac valvular dysplasia 2",1,"agreed"],["d","MONDO:0859573","bent bone dysplasia syndrome 2",1,"single"],["d","MONDO:0859574","ichthyosis, annular epidermolytic, 2",1,"single"],["d","MONDO:0859575","Atelis syndrome 1",1,"graded_apart"],["d","MONDO:0859576","Atelis syndrome 2",1,"graded_apart"],["d","MONDO:0859577","lacrimoauriculodentodigital syndrome 2",1,"single"],["d","MONDO:0859578","lacrimoauriculodentodigital syndrome 3",1,"agreed"],["d","MONDO:0957018","autoinflammatory syndrome of childhood",1,"single"],["d","MONDO:0957202","spermatogenic failure, X-linked, 7",1,"single"],["d","MONDO:0957203","intellectual developmental disorder, X-linked 111",1,"disputed"],["d","MONDO:0957204","autoinflammation with pulmonary and cutaneous vasculitis",1,"graded_apart"],["d","MONDO:0957208","pituitary hormone deficiency, combined or isolated, 8",1,"disputed"],["d","MONDO:0957210","neurooculorenal syndrome",1,"graded_apart"],["d","MONDO:0957211","neurodegeneration and seizures due to copper transport defect",1,"graded_apart"],["d","MONDO:0957216","premature ovarian failure 21",1,"graded_apart"],["d","MONDO:0957217","cortical dysplasia, complex, with other brain malformations 12",1,"graded_apart"],["d","MONDO:0957218","neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities",1,"disputed"],["d","MONDO:0957220","oocyte/zygote/embryo maturation arrest 17",1,"single"],["d","MONDO:0957221","spastic paraplegia 70, autosomal recessive",1,"single"],["d","MONDO:0957224","congenital myopathy 21 with early respiratory failure",1,"disputed"],["d","MONDO:0957225","neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities",1,"disputed"],["d","MONDO:0957228","intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities",1,"graded_apart"],["d","MONDO:0957229","hatipoglu immunodeficiency syndrome",1,"graded_apart"],["d","MONDO:0957230","oocyte/zygote/embryo maturation arrest 18",1,"disputed"],["d","MONDO:0957231","oocyte/zygote/embryo maturation arrest 19",1,"agreed"],["d","MONDO:0957240","cone-rod dystrophy 24",1,"graded_apart"],["d","MONDO:0957247","congenital myopathy 22A, classic",1,"single"],["d","MONDO:0957248","developmental and epileptic encephalopathy, 31B",1,"agreed"],["d","MONDO:0957249","spermatogenic failure 82",1,"single"],["d","MONDO:0957250","spermatogenic failure 83",1,"single"],["d","MONDO:0957252","ciliary dyskinesia, primary, 50",1,"single"],["d","MONDO:0957253","diarrhea 13",1,"graded_apart"],["d","MONDO:0957254","mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A",1,"graded_apart"],["d","MONDO:0957255","mitochondrial complex V (ATP synthase) deficiency, nuclear type 7",1,"single"],["d","MONDO:0957261","pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7",1,"disputed"],["d","MONDO:0957262","osteopetrosis, autosomal recessive 9",1,"graded_apart"],["d","MONDO:0957263","pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8",1,"disputed"],["d","MONDO:0957264","cerebroretinal microangiopathy with calcifications and cysts 3",1,"agreed"],["d","MONDO:0957266","RECON progeroid syndrome",2,"graded_apart"],["d","MONDO:0957267","neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity",1,"graded_apart"],["d","MONDO:0957270","muscular dystrophy, limb-girdle, autosomal recessive 28",1,"graded_apart"],["d","MONDO:0957271","autoinflammatory disease, systemic, with vasculitis",1,"graded_apart"],["d","MONDO:0957274","spastic paraplegia 89, autosomal recessive",1,"graded_apart"],["d","MONDO:0957278","oocyte/zygote/embryo maturation arrest 20",1,"disputed"],["d","MONDO:0957279","auditory neuropathy, autosomal dominant 2",1,"single"],["d","MONDO:0957281","nemaline myopathy 5B, autosomal recessive, childhood-onset",1,"single"],["d","MONDO:0957284","nemaline myopathy 5C, autosomal dominant",1,"agreed"],["d","MONDO:0957288","intellectual developmental disorder, autosomal recessive 79",1,"agreed"],["d","MONDO:0957294","pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9",1,"graded_apart"],["d","MONDO:0957307","woolly hair-skin fragility syndrome",1,"graded_apart"],["d","MONDO:0957308","spastic paraplegia 90A, autosomal dominant",1,"graded_apart"],["d","MONDO:0957309","spastic paraplegia 90B, autosomal recessive",1,"agreed"],["d","MONDO:0957314","retinitis pigmentosa 97",1,"disputed"],["d","MONDO:0957382","multiple mitochondrial dysfunctions syndrome 7",1,"graded_apart"],["d","MONDO:0957385","dystonia 37, early-onset, with striatal lesions",1,"graded_apart"],["d","MONDO:0957386","neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",1,"graded_apart"],["d","MONDO:0957388","autoimmune disease, multisystem, infantile-onset, 3",1,"disputed"],["d","MONDO:0957396","ciliary dyskinesia, primary, 51",1,"agreed"],["d","MONDO:0957397","intellectual developmental disorder, autosomal dominant 72",1,"agreed"],["d","MONDO:0957408","type 1 interferonopathy of childhood",1,"single"],["d","MONDO:0957494","autoinflammatory disease, multisystem, with immune dysregulation, X-linked",1,"disputed"],["d","MONDO:0957495","hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature",1,"agreed"],["d","MONDO:0957496","intellectual developmental disorder, X-linked 112",1,"graded_apart"],["d","MONDO:0957497","disabling pansclerotic morphea of childhood",1,"disputed"],["d","MONDO:0957531","neurodevelopmental disorder with microcephaly and movement abnormalities",1,"agreed"],["d","MONDO:0957533","megalencephalic leukoencephalopathy with subcortical cysts 3",1,"disputed"],["d","MONDO:0957534","megalencephalic leukoencephalopathy with subcortical cysts 4, remitting",1,"graded_apart"],["d","MONDO:0957536","intellectual developmental disorder, autosomal dominant 73",1,"disputed"],["d","MONDO:0957537","combined oxidative phosphorylation deficiency 58",1,"graded_apart"],["d","MONDO:0957539","dystonia 22, juvenile-onset",1,"single"],["d","MONDO:0957540","congenital disorder of glycosylation, type IIaa",1,"single"],["d","MONDO:0957541","neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",1,"graded_apart"],["d","MONDO:0957543","auriculocondylar syndrome 4",1,"single"],["d","MONDO:0957544","auriculocondylar syndrome 2B",1,"single"],["d","MONDO:0957545","cardiomyopathy, dilated, 2I",1,"single"],["d","MONDO:0957561","encephalitis, acute, infection-induced, susceptibility to, 12",1,"graded_apart"],["d","MONDO:0957563","cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay",1,"single"],["d","MONDO:0957572","thrombocytopenia 9",1,"single"],["d","MONDO:0957575","amegakaryocytic thrombocytopenia, congenital, 2",1,"single"],["d","MONDO:0957576","Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development",1,"single"],["d","MONDO:0957577","variegate porphyria, childhood-onset",1,"single"],["d","MONDO:0957578","thrombocytopenia 10",1,"graded_apart"],["d","MONDO:0957580","bleeding disorder, platelet-type, 25",1,"single"],["d","MONDO:0957583","neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",1,"disputed"],["d","MONDO:0957588","neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies",1,"graded_apart"],["d","MONDO:0957779","neurodevelopmental disorder with language delay and variable cognitive abnormalities",1,"graded_apart"],["d","MONDO:0957780","developmental and epileptic encephalopathy 111",1,"single"],["d","MONDO:0957783","ichthyosis with erythrokeratoderma",1,"single"],["d","MONDO:0957786","xerosis and growth failure with immune and pulmonary dysfunction syndrome",1,"agreed"],["d","MONDO:0957787","Fliedner-Zweier syndrome",1,"agreed"],["d","MONDO:0957788","spastic paraplegia 18a, autosomal dominant",1,"single"],["d","MONDO:0957790","immune dysregulation, autoimmunity, and autoinflammation",2,"graded_apart"],["d","MONDO:0957791","neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction",1,"graded_apart"],["d","MONDO:0957795","arrhythmogenic cardiomyopathy with variable ectodermal abnormalities",1,"agreed"],["d","MONDO:0957807","hyper-IgE syndrome 6, autosomal dominant, with recurrent infections",1,"agreed"],["d","MONDO:0957809","neutropenia, severe congenital, 10, autosomal recessive",1,"graded_apart"],["d","MONDO:0957810","developmental delay, dysmorphic facies, and brain anomalies",1,"agreed"],["d","MONDO:0957811","Alport syndrome 3b, autosomal recessive",1,"single"],["d","MONDO:0957812","developmental and epileptic encephalopathy 112",1,"agreed"],["d","MONDO:0957813","spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia",1,"single"],["d","MONDO:0957819","arthrogryposis, distal, type 12",1,"graded_apart"],["d","MONDO:0957820","congenital disorder of glycosylation, type IIbb",1,"single"],["d","MONDO:0957824","optic atrophy 14",1,"agreed"],["d","MONDO:0957825","hearing loss, autosomal recessive 121",1,"graded_apart"],["d","MONDO:0957832","craniometadiaphyseal osteosclerosis with hip dysplasia",1,"single"],["d","MONDO:0957870","leukoencephalopathy with vanishing white matter 2",1,"agreed"],["d","MONDO:0957871","leukoencephalopathy with vanishing white matter 3",1,"single"],["d","MONDO:0957872","leukoencephalopathy with vanishing white matter 4",1,"agreed"],["d","MONDO:0957873","leukoencephalopathy with vanishing white matter 5",1,"agreed"],["d","MONDO:0957875","neuronopathy, distal hereditary motor, autosomal dominant 11",1,"single"],["d","MONDO:0957876","neuronopathy, distal hereditary motor, autosomal recessive 10",1,"single"],["d","MONDO:0957919","Lui-Jee-Baron syndrome",1,"single"],["d","MONDO:0957920","immunodeficiency 113 with autoimmunity and autoinflammation",1,"graded_apart"],["d","MONDO:0957921","Cornelia de Lange syndrome 6",1,"agreed"],["d","MONDO:0957922","ciliary dyskinesia, primary, 52",1,"graded_apart"],["d","MONDO:0957928","otosclerosis 11",1,"agreed"],["d","MONDO:0957935","optic atrophy 15",1,"graded_apart"],["d","MONDO:0957953","Garg-Mishra progeroid syndrome",1,"agreed"],["d","MONDO:0957954","lymphatic malformation 14",1,"single"],["d","MONDO:0957955","immunodeficiency 114, folate-responsive",1,"single"],["d","MONDO:0957958","spastic paraplegia 72b, autosomal recessive",1,"single"],["d","MONDO:0957960","Long-Olsen-Distelmaier syndrome",1,"graded_apart"],["d","MONDO:0957981","immunodeficiency 115 with autoinflammation",1,"graded_apart"],["d","MONDO:0957984","cardiomyopathy, dilated, 2j",1,"disputed"],["d","MONDO:0957985","neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline",1,"graded_apart"],["d","MONDO:0957988","osteogenesis imperfecta, type 23",1,"single"],["d","MONDO:0957990","Tan-Almurshedi syndrome",1,"graded_apart"],["d","MONDO:0957991","ciliary dyskinesia, primary, 53",1,"agreed"],["d","MONDO:0957992","combined oxidative phosphorylation deficiency 59",1,"single"],["d","MONDO:0957993","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6",1,"graded_apart"],["d","MONDO:0957997","diabetes, deafness, developmental delay, and short stature syndrome",1,"single"],["d","MONDO:0957999","intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly",1,"graded_apart"],["d","MONDO:0958000","thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies",1,"disputed"],["d","MONDO:0958001","Alfadhel syndrome",1,"single"],["d","MONDO:0958005","Hoxha-Aliu syndrome",1,"graded_apart"],["d","MONDO:0958006","spondyloepimetaphyseal dysplasia, Guo-Campeau type",1,"graded_apart"],["d","MONDO:0958011","immunodeficiency 117",1,"disputed"],["d","MONDO:0958012","neurodegeneration with brain iron accumulation 9",1,"graded_apart"],["d","MONDO:0958013","immunodeficiency, common variable, 15",1,"single"],["d","MONDO:0958018","leukodystrophy, hypomyelinating, 27",1,"graded_apart"],["d","MONDO:0958022","lipodystrophy, familial partial, type 8",1,"single"],["d","MONDO:0958030","immunodeficiency 118",1,"graded_apart"],["d","MONDO:0958034","lipodystrophy, familial partial, type 9",1,"disputed"],["d","MONDO:0958035","premature ovarian failure 23",1,"single"],["d","MONDO:0958037","developmental dysplasia of the hip 3",1,"graded_apart"],["d","MONDO:0958071","Hao-Fountain syndrome due to USP7 mutation",1,"agreed"],["d","MONDO:0958120","autosomal dominant combined immunodeficiency due to ERBIN deficiency",1,"single"],["d","MONDO:0958174","basal cell nevus syndrome 1",2,"agreed"],["d","MONDO:0958175","craniofacial microsomia 1",1,"single"],["d","MONDO:0958176","oculopharyngeal muscular dystrophy 1",1,"single"],["d","MONDO:0958177","chronic recurrent multifocal osteomyelitis 3",1,"single"],["d","MONDO:0958178","cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1",1,"single"],["d","MONDO:0958179","glycine encephalopathy 1",2,"agreed"],["d","MONDO:0958180","prolonged electroretinal response suppression 1",1,"agreed"],["d","MONDO:0958181","mitochondrial trifunctional protein deficiency 1",2,"single"],["d","MONDO:0958183","Leber-like hereditary optic neuropathy, autosomal recessive 1",1,"agreed"],["d","MONDO:0958189","basal cell nevus syndrome 2",1,"single"],["d","MONDO:0958190","prolonged electroretinal response suppression 2",1,"agreed"],["d","MONDO:0958191","nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis",1,"single"],["d","MONDO:0958192","glycine encephalopathy 2",1,"single"],["d","MONDO:0958194","craniofacial microsomia 2",1,"disputed"],["d","MONDO:0958195","oculopharyngeal muscular dystrophy 2",1,"single"],["d","MONDO:0958196","epilepsy, early-onset, 3, with or without developmental delay",1,"agreed"],["d","MONDO:0958199","myoclonic epilepsy of Lafora 1",1,"single"],["d","MONDO:0958200","intellectual developmental disorder, X-linked 113",1,"single"],["d","MONDO:0958202","moyamoya disease 7",1,"graded_apart"],["d","MONDO:0958203","intellectual developmental disorder, autosomal dominant 74",1,"single"],["d","MONDO:0958204","intellectual developmental disorder, autosomal recessive 81",1,"disputed"],["d","MONDO:0958205","Yuksel-Vogel-Bauer syndrome",1,"disputed"],["d","MONDO:0958227","polydactyly-macrocephaly syndrome",1,"single"],["d","MONDO:0958228","hearing loss, autosomal recessive 122",1,"single"],["d","MONDO:0958229","bleeding disorder, vascular-type",1,"single"],["d","MONDO:0958230","orofaciodigital syndrome 20",1,"graded_apart"],["d","MONDO:0958231","neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",1,"graded_apart"],["d","MONDO:0958232","hearing loss, autosomal dominant 90",1,"agreed"],["d","MONDO:0958235","Ullrich congenital muscular dystrophy 1B",1,"single"],["d","MONDO:0958236","Ullrich congenital muscular dystrophy 1C",1,"single"],["d","MONDO:0958237","isolated hyperferritinemia",1,"graded_apart"],["d","MONDO:0958239","microphthalmia/coloboma 11",1,"agreed"],["d","MONDO:0958240","neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities",1,"single"],["d","MONDO:0958277","hearing loss, autosomal recessive 123",1,"single"],["d","MONDO:0958278","neurodevelopmental disorder with hypotonia and characteristic brain abnormalities",1,"graded_apart"],["d","MONDO:0958279","megalencephaly-polydactyly syndrome",1,"single"],["d","MONDO:0958322","intellectual developmental disorder, X-linked, syndromic 37",1,"disputed"],["d","MONDO:0958323","neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities",1,"single"],["d","MONDO:0958324","generalized epilepsy with febrile seizures plus, type 12",1,"single"],["d","MONDO:0958325","thrombocytopenia 12 with or without myopathy",1,"agreed"],["d","MONDO:0958326","macular dystrophy with or without cone dysfunction",1,"graded_apart"],["d","MONDO:0958329","Jeffries-Lakhani neurodevelopmental syndrome",1,"single"],["d","MONDO:0958330","developmental and epileptic encephalopathy 113",1,"graded_apart"],["d","MONDO:0958331","developmental and epileptic encephalopathy 114",1,"graded_apart"],["d","MONDO:0958332","neuromuscular disorder, congenital, with dysmorphic facies",1,"graded_apart"],["d","MONDO:0958333","thrombocytopenia 13, syndromic",1,"single"],["d","MONDO:0958335","cutis laxa, autosomal recessive, type 1d",1,"single"],["d","MONDO:0968944","intellectual developmental disorder, autosomal recessive 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