{ "ORPHA:10": "48,XXYY syndrome", "ORPHA:101005": "Autosomal recessive spastic paraplegia type 25/Spastic paraplegia 25, autosomal recessive", "OMIM:608220": "Autosomal recessive spastic paraplegia type 25/Spastic paraplegia 25, autosomal recessive", "ORPHA:163966": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type/Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia", "OMIM:300863": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type/Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia", "OMIM:214300": "Klippel-Feil syndrome, autosomal recessive", "OMIM:118100": "Klippel-Feil syndrome 1, autosomal dominant", "OMIM:613702": "Klippel-Feil syndrome 3, autosomal dominant", "OMIM:182990": "Spinal intradural arachnoid cysts", "OMIM:618141": "Epileptic encephalopathy, early infantile, 67", "OMIM:616346": "Epileptic encephalopathy, early infantile, 31", "OMIM:617113": "Epileptic encephalopathy, early infantile, 43", "OMIM:608636": "Chromosome 15q11-q13 duplication syndrome", "OMIM:224900": "Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive", "OMIM:612132": "Ectodermal dysplasia and immunodeficiency 2", "ORPHA:163971": "X-linked intellectual disability, Cilliers type", "OMIM:614941": "Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive", "OMIM:613148": "Inflammatory bowel disease 28, early onset, autosomal recessive", "OMIM:612567": "Inflammatory bowel disease 25, early onset, autosomal recessive", "OMIM:151600": "Nail disorder, nonsyndromic congenital, 3", "OMIM:614508": "Mirror movements 2", "OMIM:616059": "Mirror movements 3", "OMIM:618264": "Mirror movements 4", "OMIM:157600": "Mirror movements 1", "OMIM:251750": "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", "ORPHA:163976": "X-linked intellectual disability, Van Esch type", "OMIM:609454": "Supranuclear palsy, progressive, 2", "OMIM:615402": "Dyschromatosis universalis hereditaria 3", "OMIM:613080": "46XY sex reversal 5", "OMIM:154230": "46,xy sex reversal 4", "OMIM:300018": "Dosage-Sensitive sex reversal", "OMIM:612965": "46XY sex reversal 3", "OMIM:233420": "46,xy sex reversal 7", "OMIM:616425": "46,XY sex reversal 10", "ORPHA:163979": "X-linked intellectual disability-craniofacioskeletal syndrome/Craniofacioskeletal syndrome", "OMIM:300712": "X-linked intellectual disability-craniofacioskeletal syndrome/Craniofacioskeletal syndrome", "OMIM:613762": "46,xy sex reversal 6", "OMIM:618117": "Ovarian dysgenesis 7", "OMIM:618078": "Ovarian dysgenesis 6", "OMIM:614324": "Ovarian dysgenesis 3", "OMIM:300510": "Ovarian dysgenesis 2", "OMIM:606763": "Ciliary dyskinesia, primary, 2", "OMIM:300991": "Ciliary dyskinesia, primary, 36, X-linked", "OMIM:616726": "Ciliary dyskinesia, primary, 33", "OMIM:612649": "Ciliary dyskinesia, primary, 11", "ORPHA:163985": "Hyperekplexia-epilepsy syndrome/Developmental and epileptic encephalopathy 8", "OMIM:300607": "Hyperekplexia-epilepsy syndrome/Developmental and epileptic encephalopathy 8", "OMIM:617577": "Ciliary dyskinesia, primary, 37", "OMIM:611884": "Ciliary dyskinesia, primary, 7", "OMIM:615451": "Ciliary dyskinesia, primary, 23", "OMIM:615872": "Ciliary dyskinesia, primary, 29", "OMIM:242670": "Ciliary dyskinesia with defective radial spokes", "OMIM:608647": "Ciliary dyskinesia, primary, 5", "OMIM:612650": "Ciliary dyskinesia, primary, 12", "OMIM:615067": "Ciliary dyskinesia, primary, 20", "OMIM:614017": "Ciliary dyskinesia, primary, 16", "OMIM:618063": "Ciliary dyskinesia, primary, 38", "OMIM:612444": "Ciliary dyskinesia, primary, 9, with or without situs inversus", "OMIM:613193": "Ciliary dyskinesia, primary, 13", "OMIM:614874": "Ciliary dyskinesia, primary, 18", "OMIM:617091": "Ciliary dyskinesia, primary, 34", "OMIM:608644": "Ciliary dyskinesia, primary, 3, with or without situs inversus", "OMIM:618449": "Ciliary dyskinesia, primary, 41", "OMIM:215520": "Ciliary dyskinesia due to transposition of ciliary microtubules", "OMIM:614935": "Ciliary dyskinesia, primary, 19", "OMIM:215518": "Ciliary discoordination due to random ciliary orientation", "OMIM:617092": "Ciliary dyskinesia, primary, 35", "OMIM:616037": "Ciliary dyskinesia, primary, 30", "OMIM:615504": "Ciliary dyskinesia, primary, 27", "OMIM:615481": "Ciliary dyskinesia, primary, 24", "OMIM:613807": "Ciliary dyskinesia, primary, 14", "OMIM:615500": "Ciliary dyskinesia, primary, 26", "OMIM:613808": "Ciliary dyskinesia, primary, 15", "OMIM:615294": "Ciliary dyskinesia, primary, 21", "OMIM:614679": "Ciliary dyskinesia, primary, 17", "ORPHA:1642": "Distal monosomy 9p", "OMIM:615482": "Ciliary dyskinesia, primary, 25", "OMIM:615505": "Ciliary dyskinesia, primary, 28", "OMIM:615444": "Ciliary dyskinesia, primary, 22", "OMIM:616481": "Ciliary dyskinesia, primary, 32", "OMIM:612518": "Ciliary dyskinesia, primary, 10", "OMIM:610852": "Ciliary dyskinesia, primary, 6", "OMIM:225300": "Split-Hand/foot malformation 6", "OMIM:313350": "Split-Hand/foot malformation 2", "OMIM:605289": "Split-Hand/foot malformation 4", "ORPHA:1643": "Xp22.3 microdeletion syndrome", "OMIM:612286": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1", "OMIM:612287": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2", "OMIM:615524": "Microphthalmia, syndromic 12", "OMIM:615851": "Pontocerebellar hypoplasia, type 2E", "OMIM:616809": "Hyperphosphatasia with mental retardation syndrome 6", "OMIM:616025": "Glycosylphosphatidylinositol biosynthesis defect 11", "OMIM:239300": "Hyperphosphatasia with mental retardation", "OMIM:614207": "Hyperphosphatasia with mental retardation syndrome 3", "OMIM:614749": "Hyperphosphatasia with mental retardation syndrome 2", "OMIM:615716": "Hyperphosphatasia with impaired intellectual development syndrome 4", "ORPHA:1646": "Partial chromosome Y deletion", "OMIM:614204": "Psoriasis 14, pustular", "OMIM:616106": "Psoriasis 15, pustular, susceptibility to", "OMIM:611783": "Erythrocytosis, familial, 4", "OMIM:609820": "Erythrocytosis, familial, 3", "OMIM:155350": "MEGALENCEPHALY", "OMIM:248000": "Macrocephaly/megalencephaly syndrome, autosomal recessive", "OMIM:613925": "Megalencephalic leukoencephalopathy with subcortical cysts 2A", "OMIM:616734": "Skin creases, congenital symmetric circumferential, 2", "OMIM:617141": "Aniridia 2", "ORPHA:101006": "Autosomal recessive spastic paraplegia type 26/Spastic paraplegia 26, autosomal recessive", "OMIM:609195": "Autosomal recessive spastic paraplegia type 26/Spastic paraplegia 26, autosomal recessive", "ORPHA:1647": "Oculocerebrocutaneous syndrome/Oculocerebrocutaneous syndrome", "OMIM:164180": "Oculocerebrocutaneous syndrome/Oculocerebrocutaneous syndrome", "OMIM:617142": "Aniridia 3", "OMIM:614134": "Stickler syndrome, type IV", "OMIM:614284": "Stickler syndrome, type V", "OMIM:615663": "Warburg micro syndrome 4", "OMIM:614225": "Warburg micro syndrome 2", "OMIM:614222": "Warburg micro syndrome 3", "OMIM:617984": "Microcephaly 22, primary, autosomal recessive", "OMIM:612703": "Microcephaly 7, primary, autosomal recessive", "OMIM:608716": "Microcephaly 5, primary, autosomal recessive", "OMIM:604804": "Microcephaly 3, primary, autosomal recessive", "OMIM:604321": "Microcephaly 4, primary, autosomal recessive", "OMIM:604317": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "OMIM:617090": "Microcephaly 17, primary, autosomal recessive", "OMIM:616486": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities", "OMIM:616681": "Microcephaly 16, primary, autosomal recessive", "OMIM:615414": "Microcephaly 11, primary, autosomal recessive", "OMIM:617914": "Microcephaly 20, primary, autosomal recessive", "OMIM:614852": "Microcephaly 9, primary, autosomal recessive", "OMIM:616080": "Microcephaly 12, primary, autosomal recessive", "OMIM:608393": "Microcephaly, primary autosomal recessive, 6", "OMIM:604348": "Advanced sleep phase syndrome, familial, 1", "OMIM:614673": "Microcephaly 8, primary, autosomal recessive", "OMIM:616402": "Microcephaly 14, primary, autosomal recessive", "OMIM:616311": "Intellectual developmental disorder, autosomal dominant 33", "OMIM:616067": "46,xy sex reversal 9", "OMIM:615542": "Testicular anomalies with or without congenital heart disease", "OMIM:187370": "Arthrogryposis, distal, type 10", "OMIM:194470": "Zinc, elevated plasma", "OMIM:616568": "Glioma susceptibility 9", "OMIM:616335": "Microcephaly and chorioretinopathy, autosomal recessive, 3", "OMIM:613811": "Pontocerebellar hypoplasia, type 2D", "OMIM:617026": "Pontocerebellar hypoplasia, type 2F", "OMIM:612389": "Pontocerebellar hypoplasia, type 2B", "OMIM:612390": "Pontocerebellar hypoplasia, type 2C", "OMIM:277470": "Pontocerebellar hypoplasia, type 2A", "OMIM:610093": "Microphthalmia, isolated 2", "OMIM:613517": "Microphthalmia, isolated 6", "OMIM:156850": "Microphthalmia, isolated, with cataract 1", "OMIM:613704": "Microphthalmia, isolated 7", "OMIM:615113": "Microphthalmia, isolated 8", "OMIM:613094": "Microphthalmia, isolated 4", "OMIM:611038": "Microphthalmia, isolated 3", "OMIM:614293": "Hydatidiform mole, recurrent, 2", "OMIM:618431": "Hydatidiform mole, recurrent, 3", "OMIM:231090": "Hydatidiform mole, recurrent, 1", "ORPHA:1652": "Dent disease", "OMIM:617069": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "OMIM:258450": "Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive", "OMIM:609286": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3", "OMIM:609283": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "OMIM:613077": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5", "OMIM:610131": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4", "OMIM:604273": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1", "OMIM:615228": "Mitochondrial complex V (atp synthase) deficiency, nuclear type 4", "OMIM:614053": "Mitochondrial complex V (atp synthase) deficiency, nuclear type 3", "OMIM:618120": "Mitochondrial complex V (ATP synthase) deficiency nuclear type 5", "ORPHA:1653": "Dentin dysplasia", "OMIM:618257": "Deafness, autosomal recessive 112", "OMIM:618228": "Mitochondrial complex I deficiency, nuclear type 6", "OMIM:618233": "Mitochondrial complex I deficiency, nuclear type 10", "OMIM:618240": "Mitochondrial complex I deficiency, nuclear type 18", "OMIM:618241": "Mitochondrial complex I deficiency, nuclear type 19", "OMIM:616277": "Mitochondrial short-chain enoyl-coa hydratase 1 deficiency", "OMIM:618243": "Mitochondrial complex I deficiency, nuclear type 22", "OMIM:618239": "Mitochondrial complex I deficiency, nuclear type 17", "OMIM:618249": "Mitochondrial complex I deficiency, nuclear type 28", "OMIM:618244": "Mitochondrial complex I deficiency, nuclear type 23", "ORPHA:1655": "Müllerian derivatives-lymphangiectasia-polydactyly syndrome/Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", "OMIM:235255": "Müllerian derivatives-lymphangiectasia-polydactyly syndrome/Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", "OMIM:618222": "Mitochondrial complex I deficiency, nuclear type 2", "OMIM:618224": "Mitochondrial complex I deficiency, nuclear type 3", "OMIM:618235": "Mitochondrial complex I deficiency, nuclear type 13", "OMIM:618230": "Mitochondrial complex I deficiency, nuclear type 8", "OMIM:618226": "Mitochondrial complex I deficiency, nuclear type 5", "OMIM:618229": "Mitochondrial complex I deficiency, nuclear type 7", "OMIM:618225": "Mitochondrial complex I deficiency, nuclear type 4", "OMIM:618248": "Mitochondrial complex I deficiency, nuclear type 27", "OMIM:607426": "Coenzyme Q10 deficiency, primary, 1", "OMIM:614652": "Coenzyme Q10 deficiency, primary, 3", "ORPHA:1656": "Dermatitis herpetiformis", "OMIM:613803": "Meier-Gorlin syndrome 3", "OMIM:613805": "Meier-Gorlin syndrome 5", "OMIM:224690": "Meier-Gorlin syndrome 1", "OMIM:613804": "Meier-Gorlin syndrome 4", "OMIM:613800": "Meier-Gorlin syndrome 2", "OMIM:616835": "Meier-Gorlin syndrome 6", "OMIM:617063": "Meier-Gorlin syndrome 7", "OMIM:300952": "Linear skin defects with multiple congenital anomalies 3", "OMIM:300887": "Linear skin defects with multiple congenital anomalies 2", "OMIM:128100": "Dystonia 1, torsion, autosomal dominant", "OMIM:602554": "Torsion dystonia with onset in infancy", "OMIM:614042": "Moyamoya disease 5", "OMIM:618138": "Muscular dystrophy, limb-girdle, autosomal recessive 23", "OMIM:615293": "Myofibromatosis, infantile 2", "OMIM:615883": "Myopathy, tubular aggregate, 2", "OMIM:251950": "Mitochondrial myopathy with lactic acidosis", "OMIM:613561": "Myopathy, lactic acidosis, and sideroblastic anemia 2", "ORPHA:101007": "Autosomal recessive spastic paraplegia type 27/Spastic paraplegia 27, autosomal recessive", "OMIM:609041": "Autosomal recessive spastic paraplegia type 27/Spastic paraplegia 27, autosomal recessive", "OMIM:205950": "Anemia, sideroblastic, 2, pyridoxine-refractory", "OMIM:182170": "Anemia, sideroblastic, autosomal dominant", "OMIM:155310": "Visceral myopathy 1", "OMIM:618251": "Mitochondrial complex I deficiency, nuclear type 31", "OMIM:618242": "Mitochondrial complex I deficiency, nuclear type 21", "OMIM:618238": "Mitochondrial complex I deficiency, nuclear type 16", "OMIM:618234": "Mitochondrial complex I deficiency, nuclear type 11", "OMIM:301020": "Mitochondrial complex I deficiency, nuclear type 12", "OMIM:618253": "Mitochondrial complex I deficiency, nuclear type 33", "OMIM:301021": "Mitochondrial complex I deficiency, nuclear type 30", "OMIM:618237": "Mitochondrial complex I deficiency, nuclear type 15", "OMIM:618232": "Mitochondrial complex I deficiency, nuclear type 9", "OMIM:618245": "Mitochondrial complex I deficiency, nuclear type 24", "OMIM:618246": "Mitochondrial complex I deficiency, nuclear type 25", "OMIM:618250": "Mitochondrial complex I deficiency, nuclear type 29", "OMIM:618236": "Mitochondrial complex I deficiency, nuclear type 14", "OMIM:612998": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "OMIM:612999": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "OMIM:616516": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "OMIM:181350": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "OMIM:614302": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant", "OMIM:612921": "3-M syndrome 2", "OMIM:614205": "3-M syndrome 3", "OMIM:617768": "Kleefstra syndrome 2", "OMIM:614185": "Geleophysic dysplasia 2", "OMIM:231050": "Geleophysic dysplasia 1", "OMIM:617809": "Geleophysic dysplasia 3", "OMIM:614212": "Encephalopathy, acute, infection-induced, susceptibility to, 4", "OMIM:616265": "Peeling skin syndrome 3", "OMIM:618084": "Peeling skin syndrome 6", "ORPHA:1657": "Dermatoosteolysis, Kirghizian type", "OMIM:210730": "Microcephalic osteodysplastic primordial dwarfism, type III", "OMIM:210710": "Microcephalic osteodysplastic primordial dwarfism, type I", "OMIM:607174": "Meningioma, familial, susceptibility to", "OMIM:613027": "Glycogen storage disease IXc", "OMIM:306000": "Glycogen storage disease, type IXa1", "OMIM:300770": "Surfactant metabolism dysfunction, pulmonary, 4", "OMIM:614370": "Surfactant metabolism dysfunction, pulmonary, 5", "OMIM:156830": "Micromelic bone dysplasia with cloverleaf skull", "OMIM:616038": "Neu-Laxova syndrome 2", "OMIM:617468": "Arthrogryposis multiplex congenita, neurogenic, with myelin defect", "OMIM:618186": "Neuropathy, congenital hypomyelinating, 3", "OMIM:616286": "Lethal congenital contracture syndrome 7", "OMIM:616287": "Lethal congenital contracture syndrome 8", "OMIM:601634": "Neural tube defects, folate-sensitive", "OMIM:182940": "Neural tube defects, susceptibility to", "OMIM:615752": "Polymicrogyria, bilateral perisylvian", "OMIM:300388": "Polymicrogyria, bilateral perisylvian", "OMIM:616531": "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "OMIM:158901": "Facioscapulohumeral muscular dystrophy 2", "OMIM:158900": "Facioscapulohumeral muscular dystrophy 1", "OMIM:208085": "Arthrogryposis, renal dysfunction, and cholestasis 1", "OMIM:613404": "Arthrogryposis, renal dysfunction, and cholestasis 2", "OMIM:617506": "Noonan syndrome-like disorder with loose anagen hair 2", "OMIM:607721": "Noonan syndrome-like with loose anagen hair 1", "OMIM:615112": "Urofacial syndrome 2", "OMIM:257850": "Oculodentodigital dysplasia, autosomal recessive", "OMIM:300166": "Microphthalmia, syndromic 2", "OMIM:253800": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "OMIM:153670": "Bernard-Soulier syndrome, type A2, autosomal dominant", "OMIM:617542": "Gaze palsy, familial horizontal, with progressive scoliosis, 2", "OMIM:602450": "Severe combined immunodeficiency with sensitivity to ionizing radiation", "OMIM:300804": "Joubert syndrome 10", "OMIM:615665": "Joubert syndrome 22", "OMIM:617127": "Orofaciodigital syndrome XV", "ORPHA:1658": "Absence of fingerprints-congenital milia syndrome/Basan syndrome", "OMIM:129200": "Absence of fingerprints-congenital milia syndrome/Basan syndrome", "OMIM:614815": "Joubert syndrome 18", "OMIM:609404": "Preeclampsia/eclampsia 4", "OMIM:614595": "Preeclampsia/eclampsia 5", "OMIM:615342": "Pulmonary hypertension, primary, 2", "OMIM:616437": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3", "OMIM:600795": "Frontotemporal dementia and/or amytrophic lateral sclerosis 7", "OMIM:608030": "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia", "OMIM:615911": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2", "OMIM:616439": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4", "OMIM:612069": "Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia", "OMIM:105550": "Amyotrophic lateral sclerosis and/or frontotemporal dementia 1", "OMIM:613954": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6", "OMIM:617593": "Spermatogenic failure 20", "OMIM:606766": "Spermatogenic failure 3", "OMIM:617592": "Spermatogenic failure 19", "OMIM:618153": "Spermatogenic failure 34", "OMIM:617576": "Spermatogenic failure 18", "OMIM:617965": "Spermatogenic failure 27", "ORPHA:1659": "Dermatoleukodystrophy/DERMATOLEUKODYSTROPHY", "OMIM:221790": "Dermatoleukodystrophy/DERMATOLEUKODYSTROPHY", "OMIM:618429": "Spermatogenic failure 37", "OMIM:614822": "Spermatogenic failure 10", "OMIM:618433": "Spermatogenic failure 38", "OMIM:612997": "Spermatogenic failure 7", "OMIM:618152": "Spermatogenic failure 33", "OMIM:256450": "Hyperinsulinemic hypoglycemia, familial, 1", "OMIM:601820": "Hyperinsulinemic hypoglycemia, familial, 2", "OMIM:188700": "Tibia vara", "OMIM:259200": "Blount disease, adolescent", "OMIM:609220": "Bruck syndrome 2", "ORPHA:101008": "Autosomal recessive spastic paraplegia type 28/Spastic paraplegia 28, autosomal recessive", "OMIM:609340": "Autosomal recessive spastic paraplegia type 28/Spastic paraplegia 28, autosomal recessive", "OMIM:267200": "Renal tubular acidosis III", "OMIM:615560": "Otofaciocervical syndrome 2", "OMIM:167100": "Hypertrophic osteoarthropathy, primary, autosomal dominant", "OMIM:614441": "Hypertrophic osteoarthropathy, primary, autosomal recessive 2", "OMIM:615935": "Pancreatic agenesis 2", "OMIM:608895": "Macular degeneration, age-related, 3", "OMIM:613977": "Cyanosis, transient neonatal", "OMIM:145250": "Hyperpigmentation, familial progressive", "OMIM:614613": "Acrodysostosis 2 with or without hormone resistance", "OMIM:101800": "Acrodysostosis 1, with or without hormone resistance", "OMIM:613744": "Spastic paraplegia 51, autosomal recessive", "OMIM:612936": "Spastic paraplegia 50, autosomal recessive", "OMIM:614066": "Spastic paraplegia 47, autosomal recessive", "OMIM:614067": "Spastic paraplegia 52, autosomal recessive", "OMIM:242100": "Ichthyosis, congenital, autosomal recessive 2", "OMIM:606545": "Ichthyosis, congenital, autosomal recessive 3", "OMIM:605909": "Parkinson disease 6, autosomal recessive early-onset", "OMIM:616840": "Parkinson disease 23, autosomal recessive early-onset", "OMIM:615528": "Parkinson disease 19a, juvenile-onset", "OMIM:606324": "Parkinson disease 7, autosomal recessive early-onset", "OMIM:610297": "Parkinson disease 13", "OMIM:600116": "Parkinson disease, juvenile, type 2", "OMIM:228020": "Fascial dystrophy, congenital", "OMIM:610168": "Loeys-Dietz syndrome 2", "OMIM:613930": "Alopecia-Mental retardation syndrome 3", "OMIM:610422": "Alopecia-Mental retardation syndrome 2", "OMIM:615300": "Perrault syndrome 4", "OMIM:616138": "Perrault syndrome 5", "OMIM:614926": "Perrault syndrome 2", "OMIM:614129": "Perrault syndrome 3", "OMIM:617565": "Perrault syndrome 6", "OMIM:130600": "Elliptocytosis 2", "OMIM:611804": "Elliptocytosis 1", "OMIM:235370": "Hemolytic anemia with thermal sensitivity of red cells", "OMIM:610021": "Hyperinsulinemic hypoglycemia, familial, 7", "OMIM:261680": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic", "OMIM:261650": "Phosphoenolpyruvate carboxykinase 2, mitochondrial", "OMIM:617088": "Short-rib thoracic dysplasia 15 with polydactyly", "OMIM:618123": "Polydactyly, postaxial, type A8", "OMIM:600081": "Vitamin D hydroxylation-deficient rickets, type 1B", "OMIM:241520": "Hypophosphatemic rickets, autosomal recessive", "OMIM:613312": "Hypophosphatemic rickets, autosomal recessive, 2", "OMIM:193000": "Vesicoureteral reflux 1", "OMIM:615963": "Vesicoureteral reflux 8", "CCRD:17": "腓骨肌萎缩症/Charcot-Marie-Tooth disease; CMT", "OMIM:613674": "Vesicoureteral reflux 3", "OMIM:610878": "Vesicoureteral reflux 2", "OMIM:607936": "Peeling skin syndrome 4", "OMIM:617115": "Peeling skin syndrome 5", "OMIM:617301": "Glycine encephalopathy with normal serum glycine", "OMIM:162100": "Amyotrophy, hereditary neuralgic", "OMIM:614165": "Paragangliomas 5", "ORPHA:1660": "Dermoodontodysplasia/DERMOODONTODYSPLASIA", "OMIM:125640": "Dermoodontodysplasia/DERMOODONTODYSPLASIA", "OMIM:168000": "Paragangliomas 1", "OMIM:605373": "Paragangliomas 3", "OMIM:618464": "Paragangliomas 6", "OMIM:115310": "Paragangliomas 4", "OMIM:601650": "Paragangliomas 2", "OMIM:618475": "Paragangliomas 7", "OMIM:171300": "PHEOCHROMOCYTOMA", "OMIM:617004": "Polycystic liver disease 2", "OMIM:616645": "Epileptic encephalopathy, early infantile, 34", "OMIM:614959": "Developmental and epileptic encephalopathy 14", "ORPHA:166002": "Multiple epiphyseal dysplasia due to collagen 9 anomaly", "OMIM:615338": "Developmental and epileptic encephalopathy 16", "OMIM:613722": "Developmental and epileptic encephalopathy 12", "OMIM:265050": "3MC syndrome 2", "OMIM:257920": "3MC syndrome 1", "OMIM:248340": "3MC syndrome 3", "OMIM:615710": "Mitchell-Riley syndrome", "OMIM:614483": "Brain small vessel disease 2", "OMIM:175780": "Brain small vessel disease 1 with or without ocular anomalies", "OMIM:614328": "Inflammatory skin and bowel disease, neonatal, 1", "OMIM:616069": "Inflammatory skin and bowel disease, neonatal, 2", "ORPHA:166011": "Multiple epiphyseal dysplasia, Beighton type/Epiphyseal dysplasia, multiple, with myopia and conductive deafness", "OMIM:132450": "Multiple epiphyseal dysplasia, Beighton type/Epiphyseal dysplasia, multiple, with myopia and conductive deafness", "OMIM:208540": "Renal-hepatic-pancreatic dysplasia 1", "OMIM:615415": "Renal-Hepatic-Pancreatic dysplasia 2", "OMIM:174500": "Polydactyly, preaxial II", "OMIM:615539": "Ehlers-Danlos syndrome, musculocontractural type, 2", "OMIM:601223": "Neuronal intestinal dysplasia, type B", "OMIM:243180": "Visceral neuropathy, familial, autosomal recessive", "OMIM:613662": "Mitochondrial DNA depletion syndrome 4B (mngie type)", "OMIM:603041": "Mitochondrial DNA depletion syndrome 1 (MNGIE type)", "OMIM:618469": "Contractures, pterygia, and variable skeletal fusions syndrome 1B", "ORPHA:166016": "Multiple epiphyseal dysplasia, Lowry type", "OMIM:243310": "Baraitser-Winter syndrome 1", "OMIM:614583": "Baraitser-Winter syndrome 2", "OMIM:300942": "Chromosome Xq26.3 duplication syndrome", "OMIM:616963": "Hypercalcemia, infantile 2", "OMIM:610031": "Cortical dysplasia, complex, with other brain malformations 7", "OMIM:205100": "Amyotrophic lateral sclerosis 2, juvenile", "OMIM:602099": "Amyotrophic lateral sclerosis 5, juvenile", "OMIM:614373": "Amyotrophic lateral sclerosis 16, juvenile", "OMIM:618267": "Epidermodysplasia verruciformis, susceptibility to, 3", "ORPHA:101009": "Autosomal dominant spastic paraplegia type 29/Spastic paraplegia 29, autosomal dominant", "OMIM:609727": "Autosomal dominant spastic paraplegia type 29/Spastic paraplegia 29, autosomal dominant", "ORPHA:166024": "Multiple epiphyseal dysplasia, Al-Gazali type/Al-Gazali-Bakalinova syndrome", "OMIM:607131": "Multiple epiphyseal dysplasia, Al-Gazali type/Al-Gazali-Bakalinova syndrome", "OMIM:618309": "Epidermodysplasia verruciformis, susceptibility to, 5", "OMIM:600145": "Sacral defect with anterior meningocele", "OMIM:605751": "Seizures, benign familial infantile, 2", "OMIM:617080": "Seizures, benign familial infantile, 5", "OMIM:604185": "Facial paresis, hereditary congenital, 2", "OMIM:614744": "Facial paresis, hereditary congenital, 3", "OMIM:615551": "Episodic pain syndrome, familial, 2", "OMIM:609324": "Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia", "OMIM:611364": "Myoclonic epilepsy, juvenile, susceptibility to, 4", "OMIM:607628": "Epilepsy with grand mal seizures on awakening", "OMIM:617924": "Epilepsy, juvenile myoclonic, susceptibility to, 10", "OMIM:614280": "Epilepsy, juvenile myoclonic, susceptibility to, 9", "OMIM:604827": "Myoclonic epilepsy, juvenile, 2", "OMIM:613060": "Epilepsy, idiopathic generalized, 10", "OMIM:607682": "Epilepsy, idiopathic generalized, susceptibility to, 9", "OMIM:612437": "Epilepsy, progressive myoclonic 1B", "OMIM:609325": "Epiphyseal dysplasia, multiple, with miniepiphyses", "OMIM:232500": "Glycogen storage disease IV", "OMIM:144250": "Hyperlipidemia, familial combined, 3", "OMIM:613454": "Rett syndrome, congenital variant", "OMIM:617904": "Epileptic encephalopathy, early infantile, 59", "OMIM:617903": "Neurodevelopmental disorder with poor language and loss of hand skills", "OMIM:616331": "Robinow syndrome, autosomal dominant 2", "ORPHA:166035": "Brachydactyly-short stature-retinitis pigmentosa syndrome/Retinitis pigmentosa with or without skeletal anomalies", "OMIM:250410": "Brachydactyly-short stature-retinitis pigmentosa syndrome/Retinitis pigmentosa with or without skeletal anomalies", "OMIM:616894": "Robinow syndrome, autosomal dominant 3", "OMIM:612281": "Ichthyosis, congenital, autosomal recessive 6", "OMIM:601277": "Ichthyosis, congenital, autosomal recessive 4A", "OMIM:617571": "Ichthyosis, congenital, autosomal recessive 14", "OMIM:613943": "Ichthyosis, congenital, autosomal recessive 8", "OMIM:604777": "Ichthyosis, congenital, autosomal recessive 5", "OMIM:617341": "Cerebroretinal microangiopathy with calcifications and cysts 2", "OMIM:616803": "Lamb-Shaffer syndrome", "OMIM:615546": "Van maldergem syndrome 2", "OMIM:614437": "Cutis laxa, autosomal recessive, type IB", "OMIM:300703": "Spinocerebellar ataxia, X-linked 5", "OMIM:614305": "Sclerosteosis 2", "OMIM:269500": "Sclerosteosis 1", "OMIM:610189": "Senior-Loken syndrome 6", "OMIM:606996": "Senior-Loken syndrome 4", "OMIM:609254": "Senior-Loken syndrome 5", "OMIM:606995": "Senior-Loken syndrome 3", "OMIM:614845": "Nephronophthisis 15", "ORPHA:166063": "Pontocerebellar hypoplasia type 4/Pontocerebellar hypoplasia, type 4", "OMIM:225753": "Pontocerebellar hypoplasia type 4/Pontocerebellar hypoplasia, type 4", "OMIM:613615": "Senior-Loken syndrome 7", "OMIM:616307": "Senior-Loken syndrome 8", "OMIM:616629": "Senior-Loken syndrome 9", "OMIM:617756": "Erythrokeratodermia variabilis et progressiva 5", "OMIM:133200": "Erythrokeratodermia variabilis et progressiva 1", "OMIM:617526": "Erythrokeratodermia variabilis et progressiva 4", "OMIM:617524": "Erythrokeratodermia variabilis et progressiva 2", "OMIM:617525": "Erythrokeratodermia variabilis et progressiva 3", "OMIM:133180": "Erythroleukemia, familial, susceptibility to", "OMIM:265500": "Pulmonic stenosis", "OMIM:610204": "Pontocerebellar hypoplasia, type 5", "OMIM:300854": "Renal cell carcinoma, xp11-associated", "OMIM:616535": "Thyroid cancer, nonmedullary, 5", "OMIM:616534": "Thyroid cancer, nonmedullary, 4", "OMIM:606240": "Thyroid cancer, nonmedullary, 3", "OMIM:188470": "Thyroid cancer, nonmedullary, 2", "OMIM:614889": "Immunodeficiency 28", "OMIM:209950": "Immunodeficiency 27A, mycobacteriosis, AR", "OMIM:618011": "Hyperekplexia 4", "OMIM:611523": "Pontocerebellar hypoplasia, type 6", "OMIM:614619": "Hyperekplexia 2", "OMIM:614618": "Hyperekplexia 3", "OMIM:601701": "Arthrogryposis and ectodermal dysplasia", "OMIM:194380": "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema", "OMIM:616689": "Dehydrated hereditary stomatocytosis 2", "OMIM:600209": "Exostoses, multiple, type III", "OMIM:133701": "Exostoses, multiple, type II", "OMIM:616617": "Heimler syndrome 2", "OMIM:300661": "Phosphoribosylpyrophosphate synthetase superactivity", "OMIM:610017": "Multiple synostoses syndrome 2", "OMIM:193400": "Von willebrand disease, type 1", "OMIM:612961": "Multiple synostoses syndrome 3", "OMIM:186500": "Multiple synostoses syndrome 1", "OMIM:300884": "Epileptic encephalopathy, early infantile, 36", "OMIM:303400": "Cleft palate, X-linked", "OMIM:602771": "Rigid spine muscular dystrophy 1", "OMIM:615298": "Symphalangism, proximal, 1B", "OMIM:603909": "Autoimmune lymphoproliferative syndrome, type IIA", "OMIM:615559": "Autoimmune lymphoproliferative syndrome, type III", "OMIM:179300": "Radioulnar synostosis", "OMIM:611938": "Ventricular tachycardia, catecholaminergic polymorphic, 2", "OMIM:613554": "Von willebrand disease, type 2", "OMIM:614021": "Ventricular tachycardia, catecholaminergic polymorphic, 3", "OMIM:614916": "Ventricular tachycardia, catecholaminergic polymorphic, 4", "OMIM:615441": "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness", "OMIM:615895": "Polyglucosan body myopathy 1 with or without immunodeficiency", "OMIM:618183": "Diarrhea 10, protein-losing enteropathy type", "OMIM:615863": "Diarrhea 7, protein-losing Enteropathy type", "OMIM:616479": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "OMIM:618021": "Tetraamelia syndrome 2", "ORPHA:101010": "Autosomal spastic paraplegia type 30/Spastic paraplegia 30, autosomal recessive", "OMIM:610357": "Autosomal spastic paraplegia type 30/Spastic paraplegia 30, autosomal recessive", "OMIM:273395": "Tetraamelia, autosomal recessive", "OMIM:615744": "Epileptic encephalopathy, early infantile, 19", "OMIM:613235": "Factor XIIIB deficiency", "OMIM:613225": "Factor XIII, A subunit, deficiency of", "OMIM:187760": "Thoracolaryngopelvic dysplasia", "OMIM:187950": "Thrombocythemia 1", "OMIM:614521": "Thrombocythemia 3", "OMIM:601977": "Thrombocythemia 2", "OMIM:243320": "Intrinsic factor and R binder, combined congenital deficiency of", "OMIM:616553": "Dyskeratosis congenita, autosomal dominant 6", "OMIM:119100": "Split-Hand/foot malformation with long bone deficiency 1", "OMIM:612576": "Chromosome 17p13.3, telomeric, duplication syndrome", "OMIM:188740": "Tibia, hypoplasia or aplasia of, with polydactyly", "OMIM:616943": "Trichothiodystrophy 6, nonphotosensitive", "OMIM:601675": "Trichothiodystrophy 1, photosensitive", "OMIM:234050": "Trichothiodystrophy 4, nonphotosensitive", "OMIM:300953": "Trichothiodystrophy 5, nonphotosensitive", "OMIM:616395": "Trichothiodystrophy 3, photosensitive", "OMIM:616390": "Trichothiodystrophy 2, photosensitive", "OMIM:613388": "Fanconi renotubular syndrome 2", "OMIM:615605": "Fanconi renotubular syndrome 3", "OMIM:612240": "Atrial fibrillation, familial, 7", "OMIM:617280": "Atrial fibrillation, familial, 18", "OMIM:614050": "Atrial fibrillation, familial, 12", "OMIM:613980": "Atrial fibrillation, familial, 9", "OMIM:611493": "Atrial fibrillation, familial, 4", "OMIM:611494": "Atrial fibrillation, familial, 5", "OMIM:614022": "Atrial fibrillation, familial, 10", "OMIM:612201": "Atrial fibrillation, familial, 6", "OMIM:615770": "Atrial fibrillation, familial, 15", "OMIM:615378": "Atrial fibrillation, familial, 14", "OMIM:615377": "Atrial fibrillation, familial, 13", "OMIM:614049": "Atrial fibrillation, familial, 11", "OMIM:607554": "Atrial fibrillation, familial, 3", "OMIM:190440": "Trigonocephaly 1", "OMIM:614485": "Trigonocephaly 2", "OMIM:277480": "von Willebrand disease, type 3", "OMIM:314390": "VACTERL association, X-linked", "OMIM:609886": "Glomerulocystic kidney disease with hyperuricemia and isosthenuria", "OMIM:603860": "Medullary cystic kidney disease 2", "OMIM:134610": "Familial Mediterranean fever, AD", "OMIM:600193": "Waardenburg syndrome, type IIB", "OMIM:611584": "Waardenburg syndrome, type 2E", "OMIM:608890": "Waardenburg syndrome, type 2D", "ORPHA:1661": "X-linked corneal dermoid/Dermoids of cornea", "OMIM:304730": "X-linked corneal dermoid/Dermoids of cornea", "OMIM:277600": "Weill-Marchesani syndrome 1", "OMIM:614819": "Weill-Marchesani syndrome 3", "OMIM:613477": "Epileptic encephalopathy, early infantile, 5", "OMIM:617065": "Epileptic encephalopathy, early infantile, 40", "OMIM:618298": "Developmental and epileptic encephalopathy 70", "OMIM:617929": "Epileptic encephalopathy, early infantile, 60", "OMIM:616139": "Developmental and epileptic encephalopathy 27", "OMIM:615006": "Developmental and epileptic encephalopathy 15", "OMIM:616418": "Hypomagnesemia, seizures, and mental retardation", "OMIM:613882": "Hypomagnesemia 6, renal", "ORPHA:166100": "Autosomal dominant otospondylomegaepiphyseal dysplasia/Stickler syndrome, type III", "OMIM:184840": "Autosomal dominant otospondylomegaepiphyseal dysplasia/Stickler syndrome, type III", "OMIM:611718": "Hypomagnesemia 4, renal", "OMIM:241600": "Immunodeficiency 43", "OMIM:604928": "Wolfram syndrome 2", "OMIM:598500": "Wolfram syndrome, mitochondrial form", "OMIM:616455": "Zimmermann-Laband syndrome 2", "OMIM:610217": "Neurodegeneration with brain iron accumulation 2B", "OMIM:123100": "Craniosynostosis 1", "OMIM:615529": "Craniosynostosis 5, susceptibility to", "OMIM:615314": "Craniosynostosis 3", "OMIM:616602": "Craniosynostosis 6", "OMIM:613955": "Amyloidosis, primary localized cutaneous, 2", "OMIM:614750": "Myasthenic syndrome, congenital, 13, with tubular aggregates", "OMIM:610542": "Myasthenic syndrome, congenital, with tubular aggregates 1", "OMIM:616228": "Myasthenic syndrome, congenital, 14", "OMIM:616227": "Myasthenic syndrome, congenital, 15", "OMIM:609549": "Nanophthalmos 2", "OMIM:615972": "Nanophthalmos 4", "OMIM:600165": "Nanophthalmos 1", "OMIM:120430": "Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included", "ORPHA:166108": "Intellectual disability, Birk-Barel type/Birk-Barel mental retardation dysmorphism syndrome", "OMIM:612292": "Intellectual disability, Birk-Barel type/Birk-Barel mental retardation dysmorphism syndrome", "OMIM:613625": "Factor V and factor VIII, combined deficiency of", "OMIM:227310": "Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor", "OMIM:227300": "Factor V and factor VIII, combined deficiency of", "OMIM:609197": "Glucocorticoid deficiency 3", "OMIM:614736": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency", "OMIM:202355": "Adrenocortical unresponsiveness to acth with postreceptor defect", "OMIM:617825": "Glucocorticoid deficiency 5", "OMIM:607398": "Glucocorticoid deficiency 2", "OMIM:612337": "Intellectual developmental disorder, autosomal dominant 22", "OMIM:605637": "Myopathy, proximal, and ophthalmoplegia", "ORPHA:166113": "Bazex syndrome", "OMIM:613708": "Neuropathy, hereditary sensory, type ID", "OMIM:162400": "Neuropathy, hereditary sensory and autonomic, type IA", "OMIM:615632": "Neuropathy, hereditary sensory, type IF", "OMIM:613640": "Neuropathy, hereditary sensory and autonomic, type IC", "OMIM:618482": "Generalized epilepsy with febrile seizures plus, type 10", "OMIM:616172": "Generalized epilepsy with febrile seizures plus, type 9", "OMIM:613863": "Generalized epilepsy with febrile seizures plus, type 7", "OMIM:609800": "Generalized epilepsy with febrile seizures plus, type 4", "ORPHA:101011": "Autosomal dominant spastic paraplegia type 31/Spastic paraplegia 31, autosomal dominant", "OMIM:610250": "Autosomal dominant spastic paraplegia type 31/Spastic paraplegia 31, autosomal dominant", "ORPHA:166119": "Isolated osteopoikilosis", "OMIM:604403": "Generalized epilepsy with febrile seizures plus, type 2", "OMIM:232240": "Glycogen storage disease Ic", "OMIM:616398": "Dystonia 26, myoclonic", "OMIM:159900": "Dystonia 11, myoclonic", "OMIM:148700": "Keratosis palmoplantaris striata I", "OMIM:113750": "Albinism, oculocutaneous, type VI", "OMIM:613155": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1", "OMIM:615351": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14", "ORPHA:1662": "Restrictive dermopathy/Restrictive dermopathy 1", "OMIM:275210": "Restrictive dermopathy/Restrictive dermopathy 1", "OMIM:613151": "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3", "OMIM:606612": "Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5", "OMIM:613156": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2", "OMIM:608840": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6", "OMIM:613152": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4", "OMIM:616538": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9", "OMIM:615419": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "OMIM:616801": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "OMIM:277950": "Winchester syndrome", "OMIM:259600": "Multicentric osteolysis, nodulosis, and arthropathy", "OMIM:125490": "Dentinogenesis imperfecta 1", "OMIM:233690": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE", "OMIM:613960": "Chronic granulomatous disease 3, autosomal recessive", "OMIM:233670": "Granulomatous disease with defect in neutrophil chemotaxis", "OMIM:233710": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II", "OMIM:306400": "Chronic granulomatous disease, X-linked", "OMIM:233700": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I", "OMIM:613712": "Hirschsprung disease, susceptibility to, 4", "OMIM:600156": "Hirschsprung disease, susceptibility to, 5", "OMIM:125500": "Dentinogenesis imperfecta, shields type III", "OMIM:142623": "Hirschsprung disease, susceptibility to, 1", "OMIM:600155": "Hirschsprung disease, susceptibility to, 2", "OMIM:613711": "Hirschsprung disease, susceptibility to, 3", "OMIM:616817": "Microcephaly, short stature, and impaired glucose metabolism 2", "ORPHA:166272": "Odontochondrodysplasia/Osteochondrodysplasia", "OMIM:184260": "Odontochondrodysplasia/Osteochondrodysplasia", "OMIM:616033": "Microcephaly, short stature, and impaired glucose metabolism 1", "OMIM:615530": "Parkinson disease 20, early-onset", "OMIM:602247": "Xanthomatosis, susceptibility to", "OMIM:603813": "Hypercholesterolemia, autosomal recessive", "OMIM:143890": "Hypercholesterolemia, familial, 1", "OMIM:278850": "46XX sex reversal 2", "OMIM:300833": "46,xx sex reversal 3", "OMIM:255100": "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency", "OMIM:615595": "Combined oxidative phosphorylation deficiency 19", "OMIM:615513": "Immunodeficiency 14", "ORPHA:166277": "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia", "OMIM:616005": "Immunodeficiency 36", "OMIM:616546": "Short-Rib thoracic dysplasia 14 with polydactyly", "OMIM:615636": "Joubert syndrome 21", "OMIM:618204": "Immunodeficiency 15A", "OMIM:618115": "Spermatogenic failure 32", "OMIM:618086": "Spermatogenic failure 28", "OMIM:617706": "Spermatogenic failure 22", "OMIM:613957": "Spermatogenic failure 8", "OMIM:309120": "Spermatogenic failure, X-linked 2", "OMIM:270960": "Spermatogenic failure 4", "OMIM:608567": "Sick sinus syndrome 1", "OMIM:615081": "Spermatogenic failure 11", "OMIM:616950": "Spermatogenic failure 15", "OMIM:618110": "Spermatogenic failure 30", "OMIM:617960": "Spermatogenic failure 25", "OMIM:615841": "Spermatogenic failure 13", "OMIM:305700": "Sertoli cell-only syndrome", "OMIM:617707": "Spermatogenic failure 23", "OMIM:258150": "Spermatogenic failure 1", "OMIM:615413": "Spermatogenic failure 12", "OMIM:108420": "Spermatogenic failure 2", "OMIM:615842": "Spermatogenic failure 14", "OMIM:613735": "Brain malformations with or without urinary tract defects", "OMIM:614823": "Aortic valve disease 2", "OMIM:615774": "Oocyte maturation defect", "OMIM:617712": "Oocyte maturation defect 3", "OMIM:618353": "Oocyte maturation defect 6", "OMIM:606719": "Melanoma-Pancreatic cancer syndrome", "OMIM:155600": "Melanoma, cutaneous malignant", "OMIM:614251": "Parkinson disease 18", "OMIM:605543": "Parkinson disease 4", "OMIM:614203": "Parkinson disease 17", "OMIM:616361": "Parkinson disease 21", "OMIM:607060": "Parkinson disease 8, autosomal dominant", "OMIM:607688": "Parkinson disease 11", "OMIM:615721": "Renal hypodysplasia/aplasia 2", "OMIM:190330": "Trichomegaly", "OMIM:618188": "Hyperparathyroidism, transient neonatal", "OMIM:615343": "Pulmonary hypertension, primary, 3", "OMIM:265400": "Pulmonary hypertension, primary, autosomal recessive", "OMIM:615344": "Pulmonary hypertension, primary, 4", "OMIM:144700": "Renal cell carcinoma, nonpapillary", "OMIM:154275": "Malignant hyperthermia, susceptibility to, 2", "OMIM:154276": "Malignant hyperthermia, susceptibility to, 3", "OMIM:600467": "Malignant hyperthermia, susceptibility to, 4", "OMIM:601887": "Malignant hyperthermia, susceptibility to, 5", "OMIM:203400": "Corticosterone methyloxidase type I deficiency", "OMIM:610600": "Hypoaldosteronism, congenital, due to CMO II deficiency", "OMIM:302700": "Cerebral sclerosis, diffuse, Scholz type", "ORPHA:101016": "Romano-Ward syndrome/Long QT syndrome 1", "OMIM:192500": "Romano-Ward syndrome/Long QT syndrome 1", "OMIM:616636": "Immunodeficiency 44", "OMIM:616669": "Immunodeficiency 45", "OMIM:244200": "Hypogonadotropic hypogonadism 3 with or without anosmia", "OMIM:614842": "Hypogonadotropic hypogonadism 13 with or without anosmia", "OMIM:146110": "Hypogonadotropic hypogonadism 7 without anosmia", "OMIM:614838": "Hypogonadotropic hypogonadism 9 with or without anosmia", "OMIM:614858": "Hypogonadotropic hypogonadism 14 with or without anosmia", "OMIM:308700": "Hypogonadotropic hypogonadism 1 with or without anosmia", "OMIM:610628": "Hypogonadotropic hypogonadism 4 with or without anosmia", "OMIM:615270": "Hypogonadotropic hypogonadism 20 with or without anosmia", "OMIM:614840": "Hypogonadotropic hypogonadism 11 with or without anosmia", "OMIM:147950": "Hypogonadotropic hypogonadism 2 with or without anosmia", "OMIM:615266": "Hypogonadotropic hypogonadism 17 with or without anosmia", "OMIM:614839": "Hypogonadotropic hypogonadism 10 with or without anosmia", "OMIM:614841": "Hypogonadotropic hypogonadism 12 with or without anosmia", "OMIM:614837": "Hypogonadotropic hypogonadism 8 with or without anosmia", "OMIM:615269": "Hypogonadotropic hypogonadism 19 with or without anosmia", "OMIM:612702": "Hypogonadotropic hypogonadism 6 with or without anosmia", "OMIM:612370": "Hypogonadotropic hypogonadism 5 with or without anosmia", "OMIM:614880": "Hypogonadotropic hypogonadism 15 with or without anosmia", "OMIM:618056": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "OMIM:300998": "Mental retardation, X-linked, syndromic, 35", "OMIM:616078": "Mental retardation, autosomal dominant 29", "OMIM:616541": "Short stature, microcephaly, and endocrine dysfunction", "OMIM:617253": "Seckel syndrome 10", "OMIM:614920": "Peroxisome biogenesis disorder 14B", "OMIM:202370": "Peroxisome biogenesis disorder 2B", "OMIM:266510": "Peroxisome biogenesis disorder 3B", "OMIM:614867": "Peroxisome biogenesis disorder 5B", "OMIM:614873": "Peroxisome biogenesis disorder 7B", "OMIM:614885": "Peroxisome biogenesis disorder 11B", "OMIM:614871": "Peroxisome biogenesis disorder 6B", "OMIM:614863": "Peroxisome biogenesis disorder 4B", "OMIM:614877": "Peroxisome biogenesis disorder 8B", "OMIM:617370": "Peroxisome biogenesis disorder 10B", "OMIM:601539": "Peroxisome biogenesis disorder 1B", "OMIM:613763": "Cataract 16, multiple types", "OMIM:116100": "Cataract 20, multiple types", "OMIM:617938": "Developmental and epileptic encephalopathy 62", "OMIM:617162": "Epileptic encephalopathy, early infantile, 46", "OMIM:617836": "Developmental delay and seizures with or without movement abnormalities", "OMIM:617153": "Epileptic encephalopathy, early infantile, 45", "OMIM:618008": "Developmental and epileptic encephalopathy 65", "OMIM:618396": "Epileptic encephalopathy, early infantile, 74", "OMIM:616366": "Epileptic encephalopathy, early infantile, 32", "OMIM:617831": "Mental retardation, autosomal dominant 55, with seizures", "OMIM:301008": "Mental retardation, X-linked, syndromic, Houge type", "OMIM:617829": "Epileptic encephalopathy, infantile or early childhood, 2", "OMIM:616056": "Developmental and epileptic encephalopathy 26", "OMIM:132100": "Photoparoxysmal response 1", "OMIM:615476": "Developmental and epileptic encephalopathy 18", "OMIM:618201": "Epileptic encephalopathy, early infantile, 68", "OMIM:614558": "Epileptic encephalopathy, early infantile, 13", "OMIM:618437": "Epileptic encephalopathy, early infantile, 75", "OMIM:615905": "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta", "OMIM:615833": "Epileptic encephalopathy, early infantile, 21", "OMIM:615871": "Epileptic encephalopathy, early infantile, 24", "OMIM:616409": "Developmental and epileptic encephalopathy 33", "OMIM:616339": "Epileptic encephalopathy, early infantile, 29", "OMIM:617830": "Developmental and epileptic encephalopathy 58", "OMIM:613339": "Epilepsy, hot water, 1", "OMIM:616211": "Developmental and epileptic encephalopathy 28", "OMIM:617106": "Epileptic encephalopathy, early infantile, 42", "OMIM:617132": "Developmental and epileptic encephalopathy 44", "OMIM:618012": "Developmental and epileptic encephalopathy 93", "OMIM:617166": "Developmental and epileptic encephalopathy 47", "OMIM:146550": "Marie unna hereditary hypotrichosis 1", "OMIM:612841": "Hypotrichosis 5", "OMIM:118830": "Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase", "OMIM:615399": "Paroxysmal nocturnal hemoglobinuria 2", "OMIM:271530": "Brachyolmia type 1, Hobaek type", "OMIM:271630": "Brachyolmia type 1, Toledo type", "OMIM:616400": "Palmoplantar keratoderma, nonepidermolytic, focal 2", "OMIM:613000": "Palmoplantar keratoderma, nonepidermolytic, focal 1", "OMIM:175510": "Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial", "OMIM:300624": "Fragile X mental retardation syndrome", "OMIM:615511": "Myopathy due to myoadenylate deaminase deficiency", "OMIM:613751": "Heterotaxy, visceral, 4, autosomal", "OMIM:614779": "Heterotaxy, visceral, 6, autosomal", "OMIM:270100": "Heterotaxy, visceral, 5", "OMIM:616749": "Heterotaxy, visceral, 7, autosomal", "OMIM:617205": "Heterotaxy, visceral, 8, autosomal", "OMIM:601086": "Laterality defects, autosomal dominant", "OMIM:605376": "Heterotaxy, visceral, 2, autosomal", "OMIM:306955": "Heterotaxy, visceral, 1, X-linked", "OMIM:602078": "Fibrosis of extraocular muscles, congenital, 2", "OMIM:609384": "Fibrosis of extraocular muscles, congenital, 3B", "OMIM:609428": "Tukel syndrome", "OMIM:600638": "Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement", "OMIM:609612": "Fibrosis of extraocular muscles, congenital, with synergistic divergence", "OMIM:103100": "Adie pupil", "OMIM:300958": "Intellectual developmental disorder, X-linked, syndrome, snijders Blok type", "OMIM:617011": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "OMIM:164185": "Ocular cicatricial pemphigoid", "OMIM:235200": "Hemochromatosis, type 1", "OMIM:300908": "Hemolytic anemia, G6PD deficient (favism)", "OMIM:607411": "Patent ductus arteriosus 1", "OMIM:617035": "Patent ductus arteriosus 2", "OMIM:617039": "Patent ductus arteriosus 3", "OMIM:602079": "Trimethylaminuria", "OMIM:120100": "Familial cold inflammatory syndrome 1", "OMIM:616115": "Familial cold autoinflammatory syndrome 4", "OMIM:616300": "Short-Rib thoracic dysplasia 13 with or without polydactyly", "OMIM:208500": "Short-Rib thoracic dysplasia 1 with or without polydactyly", "OMIM:613819": "Short-Rib thoracic dysplasia 4 with or without polydactyly", "OMIM:611263": "Asphyxiating thoracic dystrophy 2", "OMIM:615633": "Short-Rib thoracic dysplasia 11 with or without polydactyly", "OMIM:614376": "Short-Rib thoracic dysplasia 5 with or without polydactyly", "OMIM:613091": "Asphyxiating thoracic dystrophy 3", "OMIM:614173": "Joubert syndrome 13", "OMIM:614615": "Joubert syndrome 17", "OMIM:616654": "Joubert syndrome 24", "OMIM:616784": "Joubert syndrome 26", "OMIM:616490": "Joubert syndrome 23", "OMIM:617761": "Joubert syndrome 31", "OMIM:618161": "Joubert syndrome 35", "OMIM:612291": "Joubert syndrome 8", "OMIM:610688": "Joubert syndrome 6", "OMIM:617120": "Joubert syndrome 27", "OMIM:616781": "Joubert syndrome 25", "OMIM:617622": "Joubert syndrome 30", "OMIM:242150": "Ichthyosiform erythroderma, corneal involvement, and deafness", "OMIM:602540": "Ichthyosis, hystrix-like, with deafness", "OMIM:615267": "Hypogonadotropic hypogonadism 18 with or without anosmia", "OMIM:615271": "Hypogonadotropic hypogonadism 21 with or without anosmia", "OMIM:614897": "Hypogonadotropic hypogonadism 16 with or without anosmia", "OMIM:616030": "Hypogonadotropic hypogonadism 22 with or without anosmia", "OMIM:132300": "Epilepsy, reading", "OMIM:300985": "Vas deferens, congenital bilateral aplasia of, X-linked", "OMIM:277180": "Vas deferens, congenital bilateral aplasia of", "OMIM:610448": "Chilblain lupus 1", "OMIM:614415": "Chilblain lupus 2", "OMIM:613107": "Neutropenia, severe congenital, 2, autosomal dominant", "OMIM:257100": "Neutropenia, lethal congenital, with eosinophilia", "OMIM:616867": "Spinal muscular atrophy with congenital bone fractures 2", "OMIM:616866": "Spinal muscular atrophy with congenital bone fractures 1", "OMIM:611722": "Krabbe disease, atypical, due to saposin A deficiency", "OMIM:617743": "Oocyte maturation defect 4", "OMIM:616780": "Oocyte maturation defect 2", "OMIM:616973": "Mental retardation, autosomal dominant 42", "OMIM:616917": "Mental retardation, autosomal recessive 53", "OMIM:262300": "Achromatopsia 3", "OMIM:610024": "Retinal cone dystrophy 3A", "OMIM:613856": "Achromatopsia 4", "OMIM:616517": "Achromatopsia 7", "OMIM:275355": "Squamous cell carcinoma, head and neck", "OMIM:617017": "Charcot-Marie-Tooth disease, axonal, type 2T", "OMIM:611554": "Leopard syndrome 2", "OMIM:613707": "Leopard syndrome 3", "OMIM:613406": "Witteveen-Kolk syndrome", "OMIM:615198": "Osteosclerotic metaphyseal dysplasia", "OMIM:615583": "Verheij syndrome", "OMIM:618097": "Microcephaly, growth restriction, and increased sister chromatid exchange 2", "OMIM:612908": "Keratosis palmoplantaris striata II", "OMIM:607654": "Keratosis palmoplantaris striata III", "OMIM:610181": "Aicardi-Goutieres syndrome 2", "OMIM:610333": "Aicardi-Goutieres syndrome 4", "OMIM:610329": "Aicardi-Goutieres syndrome 3", "OMIM:615846": "Aicardi-Goutieres syndrome 7", "OMIM:114100": "Basal ganglia calcification, idiopathic, childhood-onset", "OMIM:612952": "Aicardi-Goutieres syndrome 5", "OMIM:615010": "Aicardi-Goutieres syndrome 6", "OMIM:225750": "Aicardi-Goutieres syndrome 1", "OMIM:609622": "Short QT syndrome 3", "OMIM:609621": "Short QT syndrome 2", "OMIM:156310": "Metachromatic leukodystrophy, adult-onset, with normal arylsulfatasea", "OMIM:249900": "Metachromatic leukodystrophy due to saposin B deficiency", "OMIM:247640": "Lymphoblastic leukemia, acute, with lymphomatous features", "OMIM:614473": "Arterial calcification, generalized, of infancy, 2", "OMIM:208000": "Arterial calcification, generalized, of infancy, 1", "OMIM:617661": "Vertebral, cardiac, renal, and limb defects syndrome 2", "OMIM:617660": "Vertebral, cardiac, renal, and limb defects syndrome 1", "OMIM:609265": "Li-Fraumeni syndrome 2", "OMIM:120502": "Branchiootic syndrome 2", "OMIM:608389": "Branchiootic syndrome 3", "OMIM:615424": "Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3", "OMIM:615422": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2", "OMIM:177200": "Liddle syndrome 1", "OMIM:618126": "Liddle syndrome 3", "OMIM:618114": "Liddle syndrome 2", "OMIM:608594": "Lipodystrophy, congenital generalized, type 1", "OMIM:612526": "Lipodystrophy, congenital generalized, type 3", "OMIM:269700": "Lipodystrophy, congenital generalized, type 2", "OMIM:613327": "Lipodystrophy, congenital generalized, type 4", "OMIM:617755": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "OMIM:618292": "Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", "OMIM:618112": "Spermatogenic failure 31", "OMIM:617187": "Spermatogenic failure 16", "OMIM:217300": "Cornea plana 2", "OMIM:121400": "Cornea plana 1", "OMIM:608358": "Myopathy, myosin storage, autosomal dominant", "OMIM:255160": "Myopathy, myosin storage, autosomal recessive", "OMIM:613101": "Hemophagocytic lymphohistiocytosis, familial, 5", "OMIM:603553": "Hemophagocytic lymphohistiocytosis, familial, 2", "OMIM:608898": "Hemophagocytic lymphohistiocytosis, familial, 3", "ORPHA:101028": "Transaldolase deficiency/Transaldolase deficiency", "OMIM:606003": "Transaldolase deficiency/Transaldolase deficiency", "OMIM:603552": "Hemophagocytic lymphohistiocytosis, familial, 4", "OMIM:615092": "Left ventricular noncompaction 7", "OMIM:305800": "Membranoproliferative glomerulonephritis, X-linked", "OMIM:613024": "Follicular lymphoma, susceptibility to, 1", "OMIM:605027": "Lymphoma, non-hodgkin, familial", "OMIM:246300": "Leprosy, susceptibility to", "OMIM:125851": "Maturity-onset diabetes of the young, type II", "OMIM:610508": "Maturity-onset diabetes of the young, type VII", "OMIM:613375": "Maturity-onset diabetes of the young, type 11", "OMIM:609812": "Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction", "OMIM:606392": "Maturity-onset diabetes of the young, type 4", "OMIM:613370": "Maturity-onset diabetes of the young, type 10", "OMIM:616329": "Maturity-onset diabetes of the young, type 13", "OMIM:612225": "Maturity-onset diabetes of the young, type IX", "OMIM:616511": "Maturity-onset diabetes of the young, type 14", "OMIM:600496": "Maturity-onset diabetes of the young, type III", "OMIM:125850": "Maturity-onset diabetes of the young, type 1", "OMIM:606394": "Maturity-onset diabetes of the young 6", "OMIM:314400": "Cardiac valvular dysplasia, X-linked", "OMIM:615885": "Hypotrichosis 12", "OMIM:614237": "Hypotrichosis 9", "OMIM:614238": "Hypotrichosis 10", "OMIM:615059": "Hypotrichosis 11", "OMIM:607903": "Hypotrichosis 6", "OMIM:618275": "Hypotrichosis 14", "OMIM:207500": "Anus, imperforate", "OMIM:301800": "Anus, imperforate", "OMIM:613885": "Meckel syndrome, type 8", "OMIM:607361": "Meckel syndrome 3", "OMIM:614209": "Meckel syndrome, type 9", "OMIM:612284": "Meckel syndrome, type 6", "OMIM:603194": "Meckel syndrome, type 2", "OMIM:611561": "Meckel syndrome, type 5", "ORPHA:1665": "Sporadic fetal brain disruption sequence", "OMIM:611134": "Meckel syndrome, type 4", "OMIM:615397": "Meckel syndrome 11", "OMIM:617562": "Meckel syndrome 13", "OMIM:274300": "Thyroid hormone resistance, generalized, autosomal recessive", "OMIM:188570": "Thyroid hormone resistance, generalized, autosomal dominant", "OMIM:188400": "Digeorge syndrome", "OMIM:192430": "Velocardiofacial syndrome", "OMIM:309800": "Microphthalmia, syndromic 1", "OMIM:141500": "Migraine, familial hemiplegic, 1", "OMIM:602481": "Migraine, familial hemiplegic, 2", "ORPHA:1666": "Dextrocardia", "OMIM:609634": "Migraine, familial hemiplegic, 3", "OMIM:607516": "Migraine with or without aura, susceptibility to, 6", "OMIM:252300": "Morquio syndrome C", "OMIM:615350": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14", "OMIM:615181": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11", "OMIM:613154": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6", "OMIM:236670": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "OMIM:613150": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "OMIM:253280": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3", "OMIM:613153": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5", "ORPHA:1667": "Wolcott-Rallison syndrome/Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus", "OMIM:226980": "Wolcott-Rallison syndrome/Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus", "OMIM:159400": "Myasthenia, limb-girdle, autoimmune", "OMIM:616224": "Myasthenic syndrome, congenital, 22", "OMIM:616314": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency", "OMIM:605809": "Myasthenic syndrome, congenital, 4A, slow-channel", "OMIM:616323": "Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency", "OMIM:616040": "Myasthenic syndrome, congenital, 7, presynaptic", "OMIM:614198": "Myasthenic syndrome, congenital, 16", "OMIM:616720": "Myasthenic syndrome, congenital, 19", "OMIM:616330": "Myasthenic syndrome, congenital, 18", "OMIM:617143": "Myasthenic syndrome, congenital, 20, presynaptic", "OMIM:254190": "Myasthenia, congenital, refractory to acetylcholinesterase inhibitors", "OMIM:616325": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency", "OMIM:616326": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "OMIM:608930": "Myasthenic syndrome, congenital, 1B, fast-channel", "OMIM:616304": "Myasthenic syndrome, congenital, 17", "OMIM:608931": "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency", "OMIM:617239": "Myasthenic syndrome, congenital, 21, presynaptic", "OMIM:601462": "Myasthenic syndrome, congenital, 1A, slow-channel", "OMIM:616313": "Myasthenic syndrome, congenital, 2A, slow-channel", "ORPHA:167": "Chédiak-Higashi syndrome/Chediak-Higashi syndrome", "OMIM:214500": "Chédiak-Higashi syndrome/Chediak-Higashi syndrome", "OMIM:254210": "Myasthenic syndrome, congenital, 6, presynaptic", "OMIM:254300": "Myasthenia, limb-girdle, familial", "OMIM:615120": "Myasthenic syndrome, congenital, 8", "OMIM:616324": "Myasthenic syndrome, congenital, 4B, fast-channel", "OMIM:616321": "Myasthenic syndrome, congenital, 3A, slow-channel", "OMIM:603034": "Myasthenic syndrome, congenital, 5", "OMIM:616322": "Myasthenic syndrome, congenital, 3B, fast-channel", "OMIM:264420": "Fundus dystrophy, pseudoinflammatory, recessive form", "OMIM:300842": "Mcleod syndrome", "OMIM:210200": "3-Methylcrotonyl-CoA carboxylase 1 deficiency", "OMIM:210210": "3-Methylcrotonyl-CoA carboxylase 2 deficiency", "OMIM:606070": "Amyotrophic lateral sclerosis 21", "OMIM:609566": "Parietal foramina 3", "OMIM:609597": "Parietal foramina 2", "OMIM:211400": "Bronchiectasis with or without elevated sweat chloride 1", "OMIM:613071": "Bronchiectasis with or without elevated sweat chloride 3", "OMIM:613021": "Bronchiectasis with or without elevated sweat chloride 2", "OMIM:617158": "Myopathy, distal, with rimmed vacuoles", "OMIM:616471": "Bethlem myopathy 2", "OMIM:160800": "Myotonia congenita, autosomal dominant", "ORPHA:1671": "Split cord malformation type I/DIASTEMATOMYELIA", "OMIM:222500": "Split cord malformation type I/DIASTEMATOMYELIA", "OMIM:255700": "Myotonia congenita, autosomal recessive", "OMIM:609048": "Melanoma, cutaneous malignant, susceptibility to, 3", "OMIM:155700": "Melanoma, malignant familial intraocular", "OMIM:155601": "Melanoma, cutaneous malignant, susceptibility to, 2", "OMIM:615134": "Melanoma, cutaneous malignant, susceptibility to, 9", "OMIM:615848": "Melanoma, cutaneous malignant, susceptibility to, 10", "OMIM:250800": "Methemoglobinemia due to deficiency of methemoglobin reductase", "ORPHA:1672": "Diencephalic syndrome", "OMIM:250790": "Methemoglobinemia and ambiguous genitalia", "OMIM:613013": "Neuroblastoma, susceptibility to, 2", "OMIM:256700": "Neuroblastoma, susceptibility to", "OMIM:162210": "Neurofibromatosis, familial spinal", "ORPHA:1675": "Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency", "OMIM:274270": "Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency", "OMIM:607681": "Febrile seizures, familial, 8", "OMIM:612269": "Epilepsy, childhood absence, susceptibility to, 5", "OMIM:607625": "Niemann-pick disease, type C2", "OMIM:618184": "Neuropathy, congenital hypomyelinating, 2", "OMIM:606002": "Spinocerebellar ataxia, autosomal recessive 1", "OMIM:615217": "Ataxia-Oculomotor apraxia 3", "OMIM:613706": "Noonan syndrome 7", "OMIM:605275": "Noonan syndrome 2", "OMIM:615355": "Noonan syndrome 8", "OMIM:613224": "Noonan syndrome 6", "OMIM:616559": "Noonan syndrome 9", "OMIM:609942": "Noonan syndrome 3", "OMIM:616564": "Noonan syndrome 10", "OMIM:610733": "Noonan syndrome 4", "OMIM:618499": "Noonan syndrome 11", "OMIM:611553": "Noonan syndrome 5", "OMIM:608553": "Leber congenital amaurosis 9", "OMIM:613843": "Leber congenital amaurosis 15", "OMIM:611755": "Leber congenital amaurosis 10", "OMIM:604232": "Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive", "OMIM:610612": "Leber congenital amaurosis 12", "OMIM:204100": "Leber congenital amaurosis, type II", "OMIM:615360": "Leber congenital amaurosis 17", "OMIM:618513": "Leber congenital amaurosis 19", "OMIM:613829": "Leber congenital amaurosis 7", "OMIM:604537": "Leber congenital amaurosis 5", "OMIM:613835": "Leber congenital amaurosis 8", "OMIM:614186": "Leber congenital amaurosis 16", "OMIM:613826": "Leber congenital amaurosis 6", "OMIM:613341": "Leber congenital amaurosis 14", "OMIM:613837": "Leber congenital amaurosis 11", "OMIM:612712": "Leber congenital amaurosis 13", "OMIM:615821": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis", "OMIM:194090": "Wilms tumor 3", "OMIM:194071": "Multiple tumor-associated chromosome region 1", "OMIM:194070": "Wilms tumor 1", "OMIM:601363": "Wilms tumor 4", "OMIM:601583": "Wilms tumor 5", "OMIM:616806": "Wilms tumor 6", "OMIM:617271": "Nephronophthisis 20", "OMIM:615862": "Nephronophthisis 18", "OMIM:614377": "Nephronophthisis 13", "OMIM:613824": "Nephronophthisis 9", "OMIM:613159": "Nephronophthisis-Like nephropathy 1", "OMIM:613820": "Nephronophthisis 12", "OMIM:615382": "Nephronophthisis 16", "OMIM:604387": "Nephronophthisis 3", "OMIM:606966": "Nephronophthisis 4", "OMIM:611498": "Nephronophthisis 7", "OMIM:602088": "Nephronophthisis 2", "OMIM:612551": "Focal segmental glomerulosclerosis 4, susceptibility to", "OMIM:618178": "Nephrotic syndrome, type 19", "OMIM:603965": "Focal segmental glomerulosclerosis 2", "OMIM:600995": "Nephrotic syndrome, type 2", "OMIM:607832": "Focal segmental glomerulosclerosis 3, susceptibility to", "OMIM:615861": "Familial idiopathic steroid-resistant nephrotic syndrome", "OMIM:616220": "Focal segmental glomerulosclerosis 9", "OMIM:616002": "Focal segmental glomerulosclerosis 7", "OMIM:616730": "Nephrotic syndrome, type 11", "OMIM:618177": "Nephrotic syndrome, type 18", "OMIM:616893": "Nephrotic syndrome, type 13", "OMIM:615244": "Nephrotic syndrome, type 8", "OMIM:613237": "Glomerulosclerosis, focal segmental, 5", "OMIM:618176": "Nephrotic syndrome, type 17", "OMIM:615573": "Nephrotic syndrome, type 9", "OMIM:610725": "Nephrotic syndrome, type 3", "OMIM:301028": "Nephrotic syndrome, type 20", "OMIM:614196": "Nephrotic syndrome, type 6", "OMIM:616032": "Focal segmental glomerulosclerosis 8", "OMIM:256370": "Nephrotic syndrome, type 4", "OMIM:618179": "Microcephaly 24, primary, autosomal recessive", "OMIM:616892": "Nephrotic syndrome, type 12", "OMIM:614131": "Focal segmental glomerulosclerosis 6", "OMIM:603278": "Focal segmental glomerulosclerosis 1", "OMIM:201000": "Carpenter syndrome 1", "OMIM:614976": "Carpenter syndrome 2", "OMIM:614594": "Olmsted syndrome 1", "OMIM:300918": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked", "OMIM:164750": "Omphalocele due to duplication of 1p31.3", "OMIM:310980": "OMPHALOCELE", "OMIM:615085": "Osteopetrosis, autosomal recessive 8", "OMIM:259700": "Osteopetrosis, autosomal recessive 1", "OMIM:259710": "Osteopetrosis, autosomal recessive 2", "OMIM:611490": "Osteopetrosis, autosomal recessive 4", "OMIM:109543": "B-CELL MALIGNANCY, LOW-GRADE", "ORPHA:168": "Loose anagen syndrome", "OMIM:300367": "Thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "OMIM:613345": "Hypokalemic periodic paralysis, type 2", "OMIM:613488": "Myxoid liposarcoma", "OMIM:614928": "Ectodermal dysplasia 6, Hair/nail type", "OMIM:614931": "Ectodermal dysplasia 9, Hair/nail type", "OMIM:614927": "Ectodermal dysplasia 5, Hair/nail type", "OMIM:602032": "Ectodermal dysplasia 4, Hair/nail type", "OMIM:614929": "Ectodermal dysplasia 7, Hair/nail type", "ORPHA:1681": "Diprosopus", "OMIM:147480": "Cholestasis, intrahepatic, of pregnancy, 1", "OMIM:614972": "Cholestasis, intrahepatic, of pregnancy 3", "OMIM:137940": "Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome", "OMIM:607823": "Hypotrichosis-lymphedema-telangiectasia syndrome", "OMIM:300963": "Ritscher-Schinzel syndrome 2", "OMIM:220210": "Ritscher-Schinzel syndrome 1", "OMIM:104000": "Alopecia areata 1", "OMIM:610753": "Alopecia areata 2", "OMIM:300042": "Alopecia, congenital", "OMIM:203655": "Alopecia universalis congenita", "OMIM:213900": "Cerebral sclerosis similar to pelizaeus-merzbacher disease", "OMIM:169610": "Pemphigus vulgaris, familial", "OMIM:618252": "Mitochondrial complex I deficiency, nuclear type 32", "OMIM:615619": "CHOLANGIOCARCINOMA", "OMIM:231530": "3-Hydroxyacyl-Coa dehydrogenase deficiency", "OMIM:268150": "Anemia, hemolytic, Rh-null, Regulator type", "OMIM:616738": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "OMIM:601399": "Platelet disorder, familial, with associated myeloid malignancy", "ORPHA:1682": "Arterial dissection-lentiginosis syndrome/Arterial dissection with lentiginosis", "OMIM:600459": "Arterial dissection-lentiginosis syndrome/Arterial dissection with lentiginosis", "OMIM:601665": "OBESITY", "OMIM:618406": "Body mass index quantitative trait locus 20", "OMIM:187900": "Bleeding disorder, platelet-type, 17", "OMIM:600666": "Polycystic kidney disease 3", "OMIM:173900": "Polycystic kidneys", "OMIM:613095": "Polycystic kidney disease 2", "OMIM:617610": "Polycystic kidney disease 5", "OMIM:263200": "Polycystic kidney disease 4 with or without polycystic liver disease", "OMIM:613412": "Esophagitis, eosinophilic, 2", "OMIM:175800": "Porokeratosis 1, multiple types", "OMIM:175900": "Porokeratosis 3, multiple types", "OMIM:610840": "Mitral valve prolapse, myxomatous 3", "OMIM:607829": "Mitral valve prolapse, myxomatous 2", "OMIM:614514": "Thrombophilia due to protein S deficiency, autosomal recessive", "OMIM:612336": "Thrombophilia, hereditary, due to protein S deficiency, autosomal", "OMIM:612304": "Thrombophilia due to protein C deficiency, autosomal recessive", "OMIM:176860": "Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant", "OMIM:612422": "Cardiomyopathy, familial restrictive, 3", "OMIM:115210": "Cardiomyopathy, familial restrictive, 1", "OMIM:617047": "Cardiomyopathy, familial hypertrophic, 26", "OMIM:126700": "Basal laminar drusen", "OMIM:613105": "Choroidal dystrophy, central areolar 2", "OMIM:613144": "Choroidal dystrophy, central areolar 3", "OMIM:613411": "Oguchi disease-2", "OMIM:617174": "Ehlers-Danlos syndrome, periodontal type, 2", "OMIM:238320": "Hypergonadotropic hypogonadism", "OMIM:177850": "Pseudoxanthoma elasticum, forme fruste", "OMIM:616470": "Ullrich congenital muscular dystrophy 2", "OMIM:610442": "Spondyloepimetaphyseal dysplasia, Camera-Genevieve type", "OMIM:176400": "Precocious puberty, central", "OMIM:615346": "Precocious puberty, central, 2", "OMIM:612347": "Jervell and Lange-Nielsen syndrome 2", "OMIM:190350": "Trichorhinophalangeal syndrome, type I", "OMIM:190351": "Trichorhinophalangeal syndrome, type III", "OMIM:614879": "Peroxisome biogenesis disorder 9B", "OMIM:615506": "Telangiectasia, hereditary hemorrhagic, type 5", "OMIM:610655": "Telangiectasia, hereditary hemorrhagic, type 4", "OMIM:600376": "Telangiectasia, hereditary hemorrhagic, type 2", "ORPHA:168486": "Congenital neuronal ceroid lipofuscinosis", "OMIM:300799": "Mental retardation, x-linked syndromic, Raymond type", "OMIM:300271": "Mental retardation, X-linked 72", "OMIM:300983": "Mental retardation, X-linked 104", "OMIM:300419": "Mental retardation, X-linked, with or without seizures, arx-related", "OMIM:300984": "Mental retardation, X-linked 105", "OMIM:300518": "Intellectual developmental disorder, X-linked 82", "OMIM:300454": "Intellectual developmental disorder, X-linked 77", "OMIM:300210": "Mental retardation, X-linked 58", "OMIM:300047": "Mental retardation, X-linked 20", "ORPHA:168491": "Late infantile neuronal ceroid lipofuscinosis", "OMIM:300062": "Mental retardation, X-linked 14", "OMIM:309530": "Mental retardation, X-linked 1", "OMIM:300928": "Mental retardation, X-linked 101", "OMIM:300705": "Xp11.22 microduplication syndrome", "OMIM:300387": "Mental retardation, X-linked 63", "OMIM:300433": "Mental retardation, X-linked 81", "OMIM:300046": "Mental retardation, X-linked 23", "OMIM:300428": "Mental retardation, X-linked 2", "OMIM:300716": "Mental retardation, X-linked 95", "OMIM:300803": "Mental retardation, X-linked 97", "ORPHA:101039": "Female restricted epilepsy with intellectual disability/Epileptic encephalopathy, early infantile, 9", "OMIM:300088": "Female restricted epilepsy with intellectual disability/Epileptic encephalopathy, early infantile, 9", "OMIM:300115": "Mental retardation, X-linked 50", "OMIM:300851": "Mental retardation, X-linked 92", "OMIM:300919": "Mental retardation, X-linked 99", "OMIM:301013": "Mental retardation, X-linked 107", "OMIM:300844": "Mental retardation, X-linked 19", "OMIM:300849": "Mental retardation, X-linked 41", "OMIM:300324": "Mental retardation, X-linked 53", "OMIM:309549": "Mental retardation, X-linked 9", "OMIM:300850": "Mental retardation, X-linked 90", "OMIM:313420": "Spondylometaphyseal dysplasia, X-linked", "OMIM:300558": "Intellectual developmental disorder, X-linked 30", "OMIM:300355": "Mental retardation, X-linked 73", "OMIM:300143": "Mental retardation, X-linked 21", "OMIM:300114": "Raynaud-Claes syndrome", "OMIM:300978": "Tonne-Kalscheuer syndrome", "OMIM:300498": "Mental retardation, X-linked 45", "OMIM:300848": "Mental retardation, X-linked 89", "OMIM:300852": "Intellectual developmental disorder, X-linked 88", "OMIM:300436": "Mental retardation, X-linked 46", "OMIM:300505": "Mental retardation, X-linked 84", "ORPHA:168549": "Axial spondylometaphyseal dysplasia/Spondylometaphyseal dysplasia, axial", "OMIM:602271": "Axial spondylometaphyseal dysplasia/Spondylometaphyseal dysplasia, axial", "OMIM:300802": "Mental retardation, X-linked 96", "OMIM:601499": "Axenfeld-rieger syndrome, type 2", "OMIM:602482": "Axenfeld-Rieger syndrome, type 3", "OMIM:614307": "Alpha-methylacyl-CoA racemase deficiency", "OMIM:607921": "Retinitis pigmentosa 30", "OMIM:614181": "Retinitis pigmentosa 62", "OMIM:613827": "Retinitis pigmentosa 48", "OMIM:615233": "Retinitis pigmentosa 66", "OMIM:613769": "Retinitis pigmentosa 44", "OMIM:615434": "Retinitis pigmentosa with or without situs inversus", "OMIM:617304": "Retinitis pigmentosa 77", "OMIM:610282": "Retinitis pigmentosa 35", "OMIM:608380": "Retinitis pigmentosa 26", "OMIM:300155": "Retinitis pigmentosa 24", "OMIM:601718": "Retinitis pigmentosa 19", "OMIM:312612": "Retinitis pigmentosa 6", "OMIM:610599": "Retinitis pigmentosa 36", "OMIM:615780": "Retinitis pigmentosa 69", "OMIM:613758": "Retinitis pigmentosa 47", "ORPHA:168555": "Spondylometaphyseal dysplasia, A4 type/Spondylometaphyseal dysplasia, type A4", "OMIM:609052": "Spondylometaphyseal dysplasia, A4 type/Spondylometaphyseal dysplasia, type A4", "OMIM:617433": "Retinitis pigmentosa 78", "OMIM:617781": "Retinitis pigmentosa 80", "OMIM:611131": "Retinitis pigmentosa 37", "OMIM:618220": "Retinitis pigmentosa 84", "OMIM:617460": "Retinitis pigmentosa 79", "OMIM:616562": "Retinitis pigmentosa 74", "OMIM:602772": "Retinitis pigmentosa 25", "OMIM:614494": "Retinitis pigmentosa 63", "OMIM:613581": "Retinitis pigmentosa 56", "OMIM:613767": "Retinitis pigmentosa 45", "ORPHA:168558": "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency/Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "OMIM:613743": "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency/Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "OMIM:613617": "Retinitis pigmentosa 58", "OMIM:613794": "Retinitis pigmentosa 20", "OMIM:600138": "Retinitis pigmentosa 11", "OMIM:300424": "Retinitis pigmentosa 23", "OMIM:613750": "Retinitis pigmentosa 27", "OMIM:610359": "Retinitis pigmentosa 33", "OMIM:617023": "Retinitis pigmentosa 75", "OMIM:613464": "Retinitis pigmentosa 51", "OMIM:612943": "Retinitis pigmentosa 42", "ORPHA:168563": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome/46XY gonadal dysgenesis with minifascicular neuropathy", "OMIM:607080": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome/46XY gonadal dysgenesis with minifascicular neuropathy", "OMIM:613861": "Retinitis pigmentosa 59", "OMIM:618345": "Retinitis pigmentosa 85", "OMIM:613983": "Retinitis pigmentosa 60", "OMIM:612572": "Retinitis pigmentosa 46", "OMIM:600105": "Retinitis pigmentosa 12", "OMIM:613194": "Retinitis pigmentosa-50", "OMIM:180104": "Retinitis pigmentosa 9", "OMIM:600852": "Retinitis pigmentosa 17", "OMIM:613801": "Retinitis pigmentosa 40", "OMIM:616469": "Retinitis pigmentosa 72", "OMIM:610505": "Combined oxidative phosphorylation deficiency 3", "OMIM:600059": "Retinitis pigmentosa 13", "OMIM:608133": "Retinitis pigmentosa 7", "OMIM:613862": "Retinitis pigmentosa 38", "OMIM:615922": "Retinitis pigmentosa 70", "OMIM:180210": "Retinopathy, pericentral pigmentary, dominant", "OMIM:268060": "Retinopathy, pericentral pigmentary, autosomal recessive", "OMIM:613809": "Retinitis pigmentosa 39", "OMIM:613810": "Retinitis pigmentosa 43", "OMIM:613756": "Retinitis pigmentosa 49", "ORPHA:168569": "H syndrome/Histiocytosis-lymphadenopathy plus syndrome", "OMIM:602782": "H syndrome/Histiocytosis-lymphadenopathy plus syndrome", "OMIM:612165": "Retinitis pigmentosa 29", "OMIM:615725": "Retinitis pigmentosa 68", "OMIM:180100": "Retinitis pigmentosa 1", "OMIM:400004": "RETINITIS PIGMENTOSA, Y-LINKED", "OMIM:312600": "Retinitis pigmentosa 2, X-linked", "OMIM:601414": "Retinitis pigmentosa 18", "OMIM:600132": "Retinitis pigmentosa 14", "OMIM:613731": "Retinitis pigmentosa 4", "OMIM:606068": "Retinitis pigmentosa 28", "OMIM:613428": "Retinitis pigmentosa 54", "ORPHA:168572": "Native American myopathy/Myopathy, congenital, Baily-Bloch", "OMIM:255995": "Native American myopathy/Myopathy, congenital, Baily-Bloch", "OMIM:180105": "Retinitis pigmentosa 10", "OMIM:613575": "Retinitis pigmentosa 55", "OMIM:618195": "Intellectual developmental disorder and retinitis pigmentosa", "OMIM:609923": "Retinitis pigmentosa 31", "OMIM:613582": "Retinitis pigmentosa 57", "OMIM:616394": "Retinitis pigmentosa 71", "OMIM:617123": "Retinitis pigmentosa 76", "OMIM:616544": "Retinitis pigmentosa 73", "OMIM:615565": "Retinitis pigmentosa 67", "OMIM:268025": "Retinitis pigmentosa, late-adult onset", "ORPHA:101041": "Familial hypofibrinogenemia", "ORPHA:168577": "Hereditary cryohydrocytosis with reduced stomatin/Stomatin-deficient cryohydrocytosis with neurologic defects", "OMIM:608885": "Hereditary cryohydrocytosis with reduced stomatin/Stomatin-deficient cryohydrocytosis with neurologic defects", "OMIM:300029": "Retinitis pigmentosa 3", "OMIM:612095": "Retinitis pigmentosa 41", "OMIM:618173": "Retinitis pigmentosa 83", "OMIM:614180": "Retinitis pigmentosa 61", "OMIM:188580": "Thyrotoxic periodic paralysis, susceptibility to, 1", "OMIM:613239": "Thyrotoxic periodic paralysis, susceptibility to, 2", "OMIM:107000": "Nail disorder, nonsyndromic congenital, 6", "OMIM:614149": "Nail disorder, nonsyndromic congenital, 9", "OMIM:615674": "Dowling-Degos disease 3", "OMIM:604901": "North american indian childhood cirrhosis", "OMIM:615696": "Dowling-Degos disease 4", "OMIM:615327": "Dowling-Degos disease 2", "OMIM:614714": "Porokeratosis 7, multiple types", "OMIM:612353": "Porokeratosis 6, disseminated superficial Actinic type", "OMIM:616063": "Porokeratosis 8, disseminated superficial Actinic type", "OMIM:616631": "Porokeratosis 9, multiple types", "OMIM:613313": "Hemochromatosis, type 2B", "OMIM:214200": "Ceroid storage disease", "OMIM:613657": "D-2-hydroxyglutaric aciduria 2", "OMIM:263210": "Gillessen-Kaesbach-Nishimura syndrome", "OMIM:615024": "Ichthyosis, congenital, autosomal recessive 10", "OMIM:615023": "Ichthyosis, congenital, autosomal recessive 9", "OMIM:615022": "Ichthyosis, congenital, autosomal recessive 7", "OMIM:162900": "Epidermal nevus, somatic", "OMIM:613480": "Lymphatic malformation 3", "OMIM:153100": "Lymphatic malformation 1", "OMIM:611944": "Lymphatic malformation 2", "ORPHA:168593": "Sudden infant death-dysgenesis of the testes syndrome/Sudden infant death with dysgenesis of the testes syndrome", "OMIM:608800": "Sudden infant death-dysgenesis of the testes syndrome/Sudden infant death with dysgenesis of the testes syndrome", "OMIM:615907": "Lymphatic malformation 4", "OMIM:614936": "Keratoderma, palmoplantar, punctate type IB", "OMIM:148600": "Palmoplantar keratoderma, punctate type IA", "OMIM:614028": "Hyperalphalipoproteinemia 2", "OMIM:612387": "Sarcoidosis, susceptibility to, 2", "OMIM:205250": "Amyotrophic lateral sclerosis with polyglucosan bodies", "OMIM:606640": "Amyotrophic lateral sclerosis 3", "OMIM:250850": "Methionine adenosyltransferase I/III deficiency", "OMIM:616208": "Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia", "OMIM:613435": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia", "OMIM:617892": "Amyotrophic lateral sclerosis, susceptibility to, 24", "OMIM:611895": "Amyotrophic lateral sclerosis 9", "OMIM:614808": "Amyotrophic lateral sclerosis 18", "OMIM:617839": "Amyotrophic lateral sclerosis 23", "OMIM:615426": "Amyotrophic lateral sclerosis 20", "OMIM:608627": "Amyotrophic lateral sclerosis 8", "OMIM:300857": "Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia", "OMIM:615515": "Amyotrophic lateral sclerosis 19", "OMIM:105400": "Amyotrophic lateral sclerosis 1", "OMIM:612577": "Amyotrophic lateral sclerosis 11", "OMIM:613254": "Tuberous sclerosis-2", "OMIM:191100": "Tuberous sclerosis-1", "OMIM:613823": "Seckel syndrome 5", "OMIM:613676": "Seckel syndrome 4", "OMIM:210600": "Seckel syndrome 1", "OMIM:600546": "Intrauterine growth retardation with increased mitomycin C sensitivity", "OMIM:226200": "Enterokinase deficiency", "OMIM:616777": "Seckel syndrome 9", "OMIM:606744": "Seckel syndrome 2", "OMIM:615807": "Seckel syndrome 8", "OMIM:260400": "Shwachman-Diamond syndrome 1", "OMIM:617941": "Shwachman-Diamond syndrome 2", "OMIM:616489": "Silver-Russell syndrome 3", "OMIM:617169": "Intellectual developmental disorder, autosomal recessive 74", "OMIM:117550": "Sotos syndrome", "OMIM:616649": "Spherocytosis, type 2", "OMIM:610227": "Seborrhea-Like dermatitis with psoriasiform elements", "OMIM:270970": "Spherocytosis, autosomal recessive", "OMIM:612690": "Spherocytosis, type 5", "OMIM:612653": "Spherocytosis, type 4", "OMIM:603786": "Stargardt disease 4", "OMIM:600110": "Stargardt disease 3", "OMIM:128800": "Ear without helix", "OMIM:615937": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2", "OMIM:615938": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3", "OMIM:603387": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome", "OMIM:227645": "Fanconi anemia, complementation group C", "OMIM:609053": "Fanconi anemia, complementation group I", "OMIM:610832": "Fanconi anemia, complementation group N", "OMIM:616435": "Fanconi anemia, complementation group T", "OMIM:600901": "Fanconi anemia, complementation group E", "OMIM:617247": "FANCONI ANEMIA, COMPLEMENTATION GROUP U", "OMIM:609054": "Fanconi anemia, complementation group J", "OMIM:227646": "Fanconi anemia, complementation group D2", "OMIM:613390": "Fanconi anemia, complementation group O", "OMIM:617244": "Fanconi anemia, complementation group R", "OMIM:615969": "Alpha-Fetoprotein deficiency", "OMIM:615272": "Fanconi anemia, complementation group Q", "OMIM:614083": "Fanconi anemia, complementation group L", "OMIM:300514": "Fanconi anemia, complementation group B", "OMIM:613951": "Fanconi anemia, complementation group P", "OMIM:603467": "Fanconi anemia, complementation group F", "OMIM:617883": "Fanconi anemia, complementation group S", "OMIM:617243": "Fanconi anemia, complementation group V", "OMIM:614082": "Fanconi anemia, complementation group G", "OMIM:614602": "Trichohepatoenteric syndrome 2", "OMIM:616217": "Nephronophthisis 19", "OMIM:615970": "Alpha-Fetoprotein, hereditary persistence of", "OMIM:613550": "Nephronophthisis 11", "OMIM:601894": "Glomerulopathy with fibronectin deposits 2", "OMIM:617443": "Bleeding disorder, platelet-type, 21", "OMIM:259720": "Osteopetrosis, autosomal recessive 5", "OMIM:616298": "Singleton-Merten syndrome 2", "OMIM:259750": "Osteoporosis, juvenile", "OMIM:137360": "GENOCHONDROMATOSIS", "OMIM:107480": "Townes-Brocks syndrome 1", "OMIM:617466": "Townes-Brocks syndrome 2", "OMIM:613854": "Congenital heart defects, multiple types, 6", "OMIM:608808": "Transposition of the great arteries, dextro-looped 1", "OMIM:248390": "Treacher Collins syndrome 3", "OMIM:613717": "Treacher collins syndrome 2", "OMIM:607876": "Epilepsy, familial adult myoclonic, 2", "OMIM:613608": "Epilepsy, familial adult myoclonic, 3", "ORPHA:168624": "Familial scaphocephaly syndrome, McGillivray type/Familial scaphocephaly syndrome, Mcgillivray type", "OMIM:609579": "Familial scaphocephaly syndrome, McGillivray type/Familial scaphocephaly syndrome, Mcgillivray type", "OMIM:615400": "Epilepsy, familial adult myoclonic, 5", "OMIM:615127": "Epilepsy, familial adult myoclonic, 4", "OMIM:300990": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "OMIM:608805": "Avascular necrosis of femoral head, primary, 1", "OMIM:617383": "Avascular necrosis of femoral head, primary, 2", "OMIM:131440": "Myeloproliferative disorder, chronic, with eosinophilia", "OMIM:615510": "Alacrima, achalasia, and mental retardation syndrome", "OMIM:115080": "Cardiac conduction defectsudden cardiac death, included", "OMIM:604559": "Progressive familial heart block, type IB", "OMIM:140400": "Progressive familial heart block, type II", "OMIM:135290": "Desmoid disease, hereditary", "OMIM:256150": "NEPHROSIALIDOSIS", "OMIM:614742": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1", "OMIM:614743": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2", "OMIM:617816": "Glycosylphosphatidylinositol biosynthesis defect 16", "OMIM:614345": "Intellectual developmental disorder, autosomal recessive 24", "OMIM:615817": "Intellectual developmental disorder, autosomal recessive 43", "OMIM:617028": "Intellectual developmental disorder, autosomal recessive 54", "OMIM:615802": "Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities", "OMIM:618109": "Intellectual developmental disorder, autosomal recessive 65", "OMIM:605827": "Basaloid follicular hamartoma syndrome, generalized, autosomal dominant", "OMIM:616739": "Mental retardation, autosomal recessive 51", "OMIM:614208": "Intellectual developmental disorder, autosomal recessive 16", "OMIM:614499": "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly", "OMIM:614329": "Mental retardation, autosomal recessive 31", "OMIM:614343": "Intellectual developmental disorder, autosomal recessive 19", "OMIM:614202": "Rafiq syndrome", "OMIM:611097": "Mental retardation, autosomal recessive 11", "OMIM:614340": "Mental retardation, autosomal recessive 27", "OMIM:613192": "Intellectual developmental disorder, autosomal recessive 13", "OMIM:615942": "Intellectual developmental disorder, autosomal recessive 44", "OMIM:615979": "Intellectual developmental disorder, autosomal recessive 45", "OMIM:607417": "Intellectual developmental disorder, autosomal recessive 2", "OMIM:611093": "Intellectual developmental disorder, autosomal recessive 7", "OMIM:614333": "Mental retardation, autosomal recessive 29", "OMIM:617125": "Mental retardation, autosomal recessive 56", "OMIM:616193": "Mental retardation, autosomal recessive 47", "OMIM:249500": "Intellectual developmental disorder, autosomal recessive 1", "OMIM:611090": "Mental retardation, autosomal recessive 12", "OMIM:614341": "Mental retardation, autosomal recessive 33", "OMIM:614346": "Mental retardation, autosomal recessive 25", "ORPHA:168782": "Childhood disintegrative disorder", "OMIM:614347": "Mental retardation, autosomal recessive 28", "OMIM:611092": "Intellectual developmental disorder, autosomal recessive 6", "OMIM:614342": "Mental retardation, autosomal recessive 30", "OMIM:611091": "Intellectual developmental disorder, autosomal recessive 5", "OMIM:616460": "Intellectual developmental disorder, autosomal recessive 50", "OMIM:611096": "Mental retardation, autosomal recessive 10", "OMIM:618221": "Mental retardation, autosomal recessive 66", "OMIM:608443": "Intellectual developmental disorder, autosomal recessive 3", "OMIM:616116": "Intellectual developmental disorder, autosomal recessive 46", "OMIM:614020": "Intellectual developmental disorder, autosomal recessive 14", "ORPHA:168796": "Heart-hand syndrome, Slovenian type/Heart-hand syndrome, Slovenian type", "OMIM:610140": "Heart-hand syndrome, Slovenian type/Heart-hand syndrome, Slovenian type", "OMIM:614344": "Mental retardation, autosomal recessive 23", "OMIM:617188": "Mental retardation, autosomal recessive 57", "OMIM:611095": "Intellectual developmental disorder, autosomal recessive 9/26", "OMIM:616887": "Mental retardation, autosomal recessive 52", "OMIM:611107": "Intellectual developmental disorder, autosomal recessive 4", "OMIM:618402": "Intellectual developmental disorder, autosomal recessive 70", "OMIM:614249": "Mental retardation, autosomal recessive 18", "OMIM:617315": "Anterior segment dysgenesis 6, multiple subtypes", "OMIM:616494": "Leukodystrophy, hypomyelinating, 11", "OMIM:614381": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism", "OMIM:606713": "Van der woude syndrome 2", "OMIM:613310": "Exudative vitreoretinopathy 5", "OMIM:305390": "Exudative vitreoretinopathy 2, X-linked", "OMIM:616468": "Exudative vitreoretinopathy 6", "OMIM:605750": "Exudative vitreoretinopathy 3", "OMIM:133780": "Exudative vitreoretinopathy 1", "OMIM:601813": "Exudative vitreoretinopathy 4", "OMIM:617572": "Exudative vitreoretinopathy 7", "OMIM:613265": "Waardenburg syndrome, type 4B", "OMIM:613266": "Waardenburg syndrome, type 4C", "OMIM:277580": "Waardenburg-Shah syndrome", "OMIM:614643": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "OMIM:615249": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12", "OMIM:614830": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8", "OMIM:618135": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8", "OMIM:615041": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10", "OMIM:615287": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13", "OMIM:616505": "Neuropathy, hereditary motor and sensory, type VIB", "ORPHA:101046": "Autosomal dominant epilepsy with auditory features/Epilepsy, familial temporal lobe, 1", "OMIM:600512": "Autosomal dominant epilepsy with auditory features/Epilepsy, familial temporal lobe, 1", "ORPHA:168811": "Malignant peritoneal mesothelioma", "OMIM:181750": "Scleroderma, familial progressive", "OMIM:314560": "Von willebrand disease, X-linked form", "OMIM:123700": "Cutis laxa, autosomal dominant 1", "OMIM:614434": "Cutis laxa, autosomal dominant 2", "OMIM:616603": "Cutis laxa, autosomal dominant 3", "OMIM:219100": "Cutis laxa, autosomal recessive, type IA", "OMIM:614170": "Brittle cornea syndrome 2", "OMIM:146520": "Hypotrichosis 2", "OMIM:613981": "Hypotrichosis 3", "ORPHA:168816": "Peritoneal cystic mesothelioma", "OMIM:614493": "Wiskott-Aldrich syndrome 2", "OMIM:300066": "Deafness, X-linked 4", "OMIM:300030": "Deafness, X-linked 3", "OMIM:300914": "Deafness, X-linked 6", "OMIM:304500": "Deafness, X-linked 1", "OMIM:615654": "Deafness, autosomal dominant 58", "OMIM:601543": "Deafness, autosomal dominant nonsyndromic sensorineural 12", "OMIM:617606": "Deafness, autosomal dominant 72", "OMIM:609965": "Deafness, autosomal dominant 53", "OMIM:613074": "Deafness, autosomal dominant 50", "ORPHA:168829": "Primary peritoneal carcinoma", "OMIM:601868": "Deafness, autosomal dominant nonsyndromic sensorineural 13", "OMIM:606451": "Deafness, autosomal dominant 30", "OMIM:613558": "Deafness, autosomal dominant 51", "OMIM:600994": "Deafness, autosomal dominant nonsyndromic sensorineural 5", "OMIM:618410": "Deafness, autosomal recessive 113", "OMIM:606705": "Deafness, autosomal dominant 36", "OMIM:612643": "Deafness, autosomal dominant 3B", "OMIM:614211": "Deafness, autosomal dominant 33", "OMIM:612642": "Deafness, autosomal dominant 59", "OMIM:616968": "Deafness, autosomal dominant 70", "OMIM:618140": "Deafness, autosomal dominant 74", "OMIM:603622": "Deafness, autosomal dominant nonsyndromic sensorineural 17", "OMIM:616707": "Deafness, autosomal dominant 68", "OMIM:612644": "Deafness, autosomal dominant 2B", "OMIM:612431": "Deafness, autosomal dominant 27", "OMIM:606012": "Deafness, autosomal dominant 18", "OMIM:616357": "Deafness, autosomal dominant 40", "OMIM:608645": "Deafness, autosomal dominant 31", "OMIM:616044": "Deafness, autosomal dominant 65", "OMIM:604717": "Deafness, autosomal dominant 20", "OMIM:608394": "Deafness, autosomal dominant 43", "OMIM:617605": "Deafness, autosomal dominant 71", "OMIM:601317": "Deafness, autosomal dominant nonsyndromic sensorineural 11", "OMIM:605583": "Deafness, autosomal dominant 25", "OMIM:601316": "Deafness, autosomal dominant nonsyndromic sensorineural 10", "OMIM:605192": "Deafness, autosomal dominant 23", "OMIM:608224": "Deafness, autosomal dominant 41", "OMIM:608641": "Deafness, autosomal dominant nonsyndromic sensorineural 28", "OMIM:607453": "Deafness, autosomal dominant 44", "OMIM:602459": "Deafness, autosomal dominant 15", "OMIM:607841": "Deafness, autosomal dominant 48", "OMIM:616340": "Deafness, autosomal dominant 67", "OMIM:614152": "Deafness, autosomal dominant 64", "OMIM:607683": "Deafness, autosomal dominant 52", "OMIM:608372": "Deafness, autosomal dominant nonsyndromic sensorineural 49", "OMIM:600101": "Deafness, autosomal dominant nonsyndromic sensorineural 2", "OMIM:606282": "Deafness, autosomal dominant 24", "OMIM:616969": "Deafness, autosomal dominant 66", "OMIM:600652": "Deafness, autosomal dominant nonsyndromic sensorineural 4", "OMIM:609129": "Auditory neuropathy, autosomal dominant, 1", "OMIM:616697": "Deafness, autosomal dominant 69", "OMIM:617663": "Deafness, autosomal dominant 73", "OMIM:614614": "Deafness, autosomal dominant 4B", "OMIM:600965": "Deafness, autosomal dominant 6", "OMIM:607017": "Deafness, autosomal dominant 21", "OMIM:601412": "Deafness, autosomal dominant nonsyndromic sensorineural 7", "OMIM:615629": "Deafness, autosomal dominant 56", "OMIM:601369": "Deafness, autosomal dominant 9", "OMIM:608652": "Deafness, autosomal dominant 47", "OMIM:601544": "Deafness, autosomal dominant nonsyndromic sensorineural 3", "OMIM:603964": "Deafness, autosomal dominant 16", "OMIM:618094": "Deafness, autosomal recessive 110", "OMIM:615649": "Deafness, autosomal dominant 54", "OMIM:607821": "Deafness, autosomal recessive 37", "OMIM:614899": "Deafness, autosomal recessive 93", "OMIM:607101": "Deafness, autosomal recessive 30", "OMIM:610248": "Deafness, autosomal recessive 65", "OMIM:613079": "Deafness, autosomal recessive 77", "OMIM:603720": "Deafness, autosomal recessive 16", "OMIM:613865": "Deafness, autosomal recessive 61", "OMIM:600060": "Deafness, neurosensory, autosomal recessive 2", "OMIM:608265": "Deafness, congenital neurosensory, autosomal recessive 39", "OMIM:601869": "Deafness, autosomal recessive 15", "OMIM:609533": "Deafness, autosomal recessive 23", "OMIM:600791": "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct", "OMIM:617639": "Deafness, autosomal recessive 107", "OMIM:618481": "Deafness, autosomal recessive 99", "OMIM:600792": "Deafness, neurosensory, autosomal recessive 5", "OMIM:612789": "Deafness, autosomal recessive 71", "OMIM:601072": "Deafness, autosomal recessive 8/10", "OMIM:609439": "Deafness, autosomal recessive 48", "OMIM:607084": "Deafness, autosomal recessive 31", "OMIM:601386": "Deafness, autosomal recessive 12", "OMIM:614035": "Deafness, autosomal recessive 29", "OMIM:613685": "Deafness, autosomal recessive 83", "OMIM:615837": "Deafness, autosomal recessive 101", "OMIM:610220": "Deafness, autosomal recessive 59", "OMIM:618456": "Deafness, autosomal recessive 114", "OMIM:145981": "Hypocalciuric hypercalcemia, familial, type II", "OMIM:600316": "Deafness, neurosensory, autosomal recessive 3", "OMIM:607039": "Deafness, autosomal recessive 22", "OMIM:608264": "Deafness, congenital neurosensory, autosomal recessive 40", "OMIM:618434": "Deafness, autosomal recessive 94", "OMIM:615429": "Deafness, autosomal recessive 88", "OMIM:616042": "Deafness, autosomal recessive 103", "OMIM:603629": "Deafness, autosomal recessive 21", "OMIM:608219": "Deafness, congenital neurosensory, autosomal recessive 38", "OMIM:613718": "Deafness, autosomal recessive 74", "OMIM:614414": "Deafness, autosomal recessive 96", "ORPHA:168984": "CLAPO syndrome/Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth", "OMIM:613089": "CLAPO syndrome/Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth", "OMIM:613916": "Deafness, autosomal recessive 89", "OMIM:600974": "Deafness, neurosensory, autosomal recessive 7", "OMIM:609952": "Deafness, autosomal recessive 55", "OMIM:609006": "Deafness, autosomal recessive 36, with or without vestibular involvement", "OMIM:609647": "Deafness, neurosensory, autosomal recessive 46", "OMIM:616515": "Deafness, autosomal recessive 104", "OMIM:610265": "Deafness, autosomal recessive 67", "OMIM:610143": "Deafness, autosomal recessive 62", "OMIM:603010": "Deafness, autosomal recessive 17", "OMIM:608653": "Deafness, autosomal recessive 32, with or without immotile sperm", "OMIM:220290": "Deafness, autosomal recessive 1A", "OMIM:612433": "Deafness, autosomal recessive 45", "OMIM:600971": "Deafness, autosomal recessive 6", "OMIM:615974": "Deafness, autosomal recessive 102", "OMIM:616705": "Deafness, autosomal recessive 97", "OMIM:613391": "Deafness, autosomal recessive 84", "OMIM:610154": "Deafness, autosomal recessive 44", "OMIM:609823": "Deafness, autosomal recessive 28", "OMIM:615540": "Deafness, autosomal recessive 76", "OMIM:604060": "Deafness, autosomal recessive 20", "ORPHA:169": "Ringed hair disease/Ringed hair", "OMIM:180600": "Ringed hair disease/Ringed hair", "OMIM:601071": "Deafness, autosomal recessive 9", "OMIM:613285": "Deafness, autosomal recessive 25", "OMIM:610153": "Deafness, autosomal recessive 49", "OMIM:608565": "Deafness, autosomal recessive 35", "OMIM:617654": "Deafness, autosomal recessive 108", "OMIM:610419": "Deafness, autosomal recessive 68", "OMIM:614617": "Deafness, autosomal recessive 86", "OMIM:617637": "Deafness, autosomal recessive 106", "OMIM:609646": "Deafness, neurosensory, autosomal recessive 42", "OMIM:610212": "Deafness, autosomal recessive 66", "ORPHA:169079": "Cernunnos-XLF deficiency", "OMIM:618422": "Deafness, autosomal recessive 100", "OMIM:614944": "Deafness, autosomal recessive 84B", "OMIM:607239": "Deafness, autosomal recessive 33", "OMIM:614945": "Deafness, autosomal recessive 18B", "OMIM:613392": "Deafness, autosomal recessive 85", "OMIM:609941": "Deafness, autosomal recessive 51", "OMIM:614934": "Deafness, autosomal recessive 70", "OMIM:612645": "Deafness, autosomal recessive 1B", "OMIM:605428": "Deafness, autosomal recessive 26", "OMIM:613453": "Deafness, autosomal recessive 91", "OMIM:615607": "Immunodeficiency 17", "OMIM:614861": "Deafness, autosomal recessive 98", "OMIM:611022": "Deafness, autosomal recessive, 24", "OMIM:609706": "Deafness, autosomal recessive 53", "OMIM:603098": "Deafness, autosomal recessive 13", "OMIM:611451": "Deafness, autosomal recessive 63", "OMIM:613307": "Deafness, autosomal recessive 79", "OMIM:605818": "Deafness, autosomal recessive 27", "OMIM:609946": "Deafness, autosomal recessive 47", "OMIM:603678": "Deafness, autosomal recessive 14", "OMIM:618145": "Deafness, autosomal recessive 111", "OMIM:608957": "Cd8 deficiency, familial", "OMIM:602092": "Deafness, neurosensory, autosomal recessive 18", "OMIM:580000": "Deafness, aminoglycoside-induced", "OMIM:221745": "Deafness, sensorineural, Autosomal-Mitochondrial type", "OMIM:312000": "Panhypopituitarism, X-linked", "OMIM:262600": "Pituitary hormone deficiency, combined, 2", "OMIM:278720": "Xeroderma pigmentosum, group C", "OMIM:278740": "Xeroderma pigmentosum, complementation group E", "OMIM:278700": "Xeroderma pigmentosum, complementation group A", "OMIM:614870": "Peroxisome biogenesis disorder 6A (Zellweger)", "OMIM:614866": "Peroxisome biogenesis disorder 5A (Zellweger)", "ORPHA:169090": "Combined immunodeficiency due to CRAC channel dysfunction", "OMIM:614882": "Peroxisome biogenesis disorder 10A (Zellweger)", "OMIM:614872": "Peroxisome biogenesis disorder 7A (zellweger)", "OMIM:614862": "Peroxisome biogenesis disorder 4A (Zellweger)", "OMIM:614859": "Peroxisome biogenesis disorder 3A (Zellweger)", "OMIM:214110": "Peroxisome biogenesis disorder 2A (Zellweger)", "OMIM:614887": "Peroxisome biogenesis disorder 13A (Zellweger)", "OMIM:614886": "Peroxisome biogenesis disorder 12A (Zellweger)", "OMIM:614883": "Peroxisome biogenesis disorder 11A (Zellweger)", "OMIM:614876": "Peroxisome biogenesis disorder 8A (Zellweger)", "OMIM:615582": "Loeys-Dietz syndrome 5", "ORPHA:169095": "Severe combined immunodeficiency due to FOXN1 deficiency/T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY", "OMIM:601705": "Severe combined immunodeficiency due to FOXN1 deficiency/T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY", "OMIM:613780": "Aortic aneurysm, familial thoracic 7", "OMIM:617168": "Aortic aneurysm, familial thoracic 10", "OMIM:616166": "Aortic aneurysm, familial thoracic 9", "OMIM:132900": "Aortic aneurysm, familial thoracic 4", "OMIM:615436": "Aortic aneurysm, familial thoracic 8", "OMIM:614816": "Loeys-Dietz syndrome 4", "OMIM:611788": "Aortic aneurysm, familial thoracic 6", "OMIM:300245": "Ptosis, hereditary congenital 2", "OMIM:601549": "ALACRIMA", "OMIM:606367": "Immunodeficiency 41 with lymphoproliferation and autoimmunity", "OMIM:103420": "Alacrima, congenital", "OMIM:601631": "Anterior segment dysgenesis 3", "OMIM:137600": "Iridogoniodysgenesis, type 2", "OMIM:611597": "Cataract, autosomal dominant, multiple types 1", "OMIM:616279": "Cataract 43", "OMIM:611391": "Cataract 33, multiple types", "OMIM:609376": "Cataract 35", "OMIM:600740": "Hypocalciuric hypercalcemia, familial, type III", "ORPHA:169105": "Good syndrome", "OMIM:610623": "Cataract 11, multiple types", "OMIM:212500": "Cataract 46, juvenile-onset", "OMIM:615274": "Cataract 15, multiple types", "OMIM:601202": "Cataract, anterior polar, 2", "OMIM:115650": "Cataract, anterior polar, 1", "OMIM:115800": "Cataract, crystalline coralliform", "OMIM:615188": "Cataract, multiple types", "OMIM:610019": "Cataract, autosomal recessive congenital 2", "OMIM:614422": "Cataract, congenital, cerulean type, 5", "OMIM:615277": "Cataract 19, multiple types", "OMIM:116400": "Cataract, nuclear total", "OMIM:116700": "Cataract 13 with adult i phenotype", "OMIM:115665": "Cataract, congenital, Volkmann type", "OMIM:610202": "Cataract 21, multiple types", "OMIM:115900": "Cataract 42", "OMIM:116300": "Cataract 30, multiple types", "OMIM:616851": "Cataract 45", "OMIM:302200": "Cataract, congenital total, with posterior sutural opacities in heterozygotes", "OMIM:115660": "Cataract 7", "OMIM:604307": "Cataract 2, multiple types", "OMIM:116800": "Cataract, lamellar", "OMIM:601885": "Cataract, zonular pulverulent 3", "OMIM:611544": "Cataract 17, multiple types", "OMIM:614691": "Cataract, autosomal recessive congenital 5", "OMIM:610425": "Cataract 23", "OMIM:616509": "Cataract 44", "OMIM:605387": "Cataract 31, multiple types", "OMIM:609741": "Cataract 22, multiple types", "OMIM:116600": "Cataract, posterior polar, 1 ctpa cataract, congenital total, included", "OMIM:600881": "Cataract, congenital zonular, with sutural opacities", "OMIM:221900": "Persistent hyperplastic primary vitreous, autosomal recessive", "OMIM:200400": "Achalasia, familial esophageal", "OMIM:616026": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "OMIM:600785": "Vitamin D-dependent rickets type 2B with normal vitamin D receptor", "OMIM:263520": "Short-Rib thoracic dysplasia 6 with or without polydactyly", "OMIM:615503": "Short rib-polydactyly syndrome, type VI", "OMIM:612847": "Brachyolmia 4 with mild epiphyseal and metaphyseal changes", "OMIM:271600": "Spondyloepiphyseal dysplasia tarda, autosomal recessive", "OMIM:184100": "Spondyloepiphyseal dysplasia tarda, autosomal dominant", "OMIM:313400": "Spondyloepiphyseal dysplasia tarda, X-linked", "OMIM:174200": "Polydactyly, postaxial, type A1", "OMIM:263450": "Polydactyly, postaxial, type A5", "OMIM:615226": "Polydactyly, postaxial, type A6", "OMIM:618498": "Polydactyly, postaxial, type A10", "OMIM:602085": "Polydactyly, postaxial, type A2", "OMIM:618219": "Polydactyly, postaxial, type A9", "OMIM:607095": "Anauxetic dysplasia 1", "OMIM:617396": "Anauxetic dysplasia 2", "OMIM:618395": "Spondyloepimetaphyseal dysplasia with joint laxity, type 3", "OMIM:613382": "Brachydactyly, type E2", "OMIM:615072": "Brachydactyly, type A1, C", "OMIM:616849": "Brachydactyly, type A1, D", "OMIM:607004": "Brachydactyly, type A1, B", "OMIM:617405": "Short-Rib thoracic dysplasia 17 with or without polydactyly", "ORPHA:169154": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency", "OMIM:615670": "Schwannomatosis 2", "OMIM:162260": "Neurofibromatosis, type III, mixed central and peripheral", "OMIM:612076": "Hypouricemia, renal, 2", "OMIM:242050": "Hypouricemia, hypercalcinuria, and decreased bone density", "OMIM:307830": "Hypouricemia, familial renal, due to tubular hypersecretion", "OMIM:601992": "Friedreich ataxia 2", "OMIM:300652": "Angioma serpiginosum, X-linked", "OMIM:106050": "Angioma serpiginosum, autosomal dominant", "OMIM:613986": "Pituitary hormone deficiency, combined, 6", "OMIM:102400": "ACROOSTEOLYSIS", "OMIM:146450": "Hypospadias 3, autosomal", "OMIM:300758": "Hypospadias 2, X-linked", "OMIM:300633": "Hypospadias 1, X-linked", "OMIM:225250": "Hypothyroidism, congenital, nongoitrous, 5", "OMIM:218700": "Hypothyroidism, congenital, nongoitrous, 2", "OMIM:607200": "Thyroid dyshormonogenesis 6", "OMIM:274900": "Thyroid hormonogenesis, genetic defect in, 5", "OMIM:274800": "Thyroid hormonogenesis, genetic defect in, 4", "ORPHA:169160": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta", "OMIM:274700": "Thyroid hormonogenesis, genetic defect in, 3", "OMIM:274500": "Thyroid hormonogenesis, genetic defect in, 2A", "OMIM:300943": "Pituitary adenoma 2, GH-secreting", "OMIM:614213": "Neuropathy, hereditary sensory, type IIC", "OMIM:201300": "Neuropathy, hereditary sensory and autonomic, type II", "OMIM:613115": "Neuropathy, hereditary sensory and autonomic, type IIB", "OMIM:614707": "Brown-Vialetto-Van laere syndrome 2", "OMIM:211500": "Bulbar palsy, progressive, of childhood", "OMIM:211530": "Brown-Vialetto-Van Laere syndrome 1", "OMIM:600332": "Rippling muscle disease 1", "OMIM:300718": "Myopathy, reducing body, X-linked, childhood-onset", "OMIM:300717": "Myopathy, reducing body, X-linked, early-onset, severe", "OMIM:615297": "Adams-Oliver syndrome 4", "OMIM:616028": "Adams-Oliver syndrome 5", "OMIM:614814": "Adams-Oliver syndrome 3", "OMIM:616589": "Adams-Oliver syndrome 6", "OMIM:614219": "Adams-Oliver syndrome 2", "OMIM:607473": "Vitamin K-dependent clotting factors, combined deficiency of, 2", "OMIM:216820": "Coloboma, ocular, autosomal recessive", "ORPHA:169186": "Autosomal recessive centronuclear myopathy", "OMIM:120200": "Coloboma, ocular", "OMIM:608908": "Myopia 6", "OMIM:614292": "Myopia, high, with cataract and vitreoretinal degeneration", "OMIM:615431": "Myopia 23, autosomal recessive", "OMIM:610708": "Optic atrophy 5", "OMIM:617302": "Optic atrophy 11", "OMIM:258500": "Optic atrophy 6", "OMIM:616732": "Optic atrophy 10 with or without ataxia, mental retardation, and seizures", "OMIM:616289": "Optic atrophy 9", "ORPHA:169189": "Autosomal dominant centronuclear myopathy/Myopathy, centronuclear, autosomal dominant", "OMIM:160150": "Autosomal dominant centronuclear myopathy/Myopathy, centronuclear, autosomal dominant", "OMIM:614430": "Atrioventricular septal defect 4", "OMIM:614474": "Atrioventricular septal defect 5", "OMIM:615779": "Congenital heart defects, multiple types, 4", "OMIM:606217": "Atrioventricular septal defect, susceptibility to, 2", "OMIM:610353": "Epilepsy, nocturnal frontal lobe, 4", "OMIM:600513": "Epilepsy, nocturnal frontal lobe, type 1", "OMIM:615005": "Epilepsy, nocturnal frontal lobe, 5", "OMIM:603204": "Epilepsy, nocturnal frontal lobe, 2", "OMIM:605375": "Epilepsy, nocturnal frontal lobe, 3", "ORPHA:1692": "Mosaic trisomy 1", "OMIM:611031": "Episodic kinesigenic dyskinesia 2", "OMIM:611147": "Paroxysmal nonkinesigenic dyskinesia 2", "OMIM:611631": "Epilepsy, familial temporal lobe, 4", "OMIM:604364": "Epilepsy, familial focal, with variable foci", "OMIM:617118": "Epilepsy, familial focal, with variable foci 3", "OMIM:617116": "Epilepsy, familial focal, with variable foci 2", "OMIM:263000": "Interstitial pneumonitis, desquamative, familial", "OMIM:615631": "Anemia, congenital dyserythropoietic, type Ib", "OMIM:618185": "Periventricular nodular heterotopia 8", "OMIM:159050": "Muscular dystrophy, pseudohypertrophic, with internalized capillaries", "OMIM:618197": "Myasthenic syndrome, congenital, 23, presynaptic", "OMIM:618323": "Myasthenic syndrome, congenital, 25, presynaptic", "OMIM:139393": "Neuropathy, inflammatory demyelinating", "OMIM:615145": "Microphthalmia, isolated, with coloboma 9", "OMIM:616428": "Microphthalmia, isolated, with coloboma 10", "OMIM:614497": "Microphthalmia, isolated, with coloboma 7", "OMIM:251505": "Microphthalmia, isolated, with coloboma 4", "OMIM:610092": "Microphthalmia with coloboma 3", "OMIM:613703": "Microphthalmia, isolated, with coloboma 6", "OMIM:611638": "Microphthalmia, isolated, with coloboma 5", "OMIM:608471": "Corneal dystrophy, lattice type IIIA", "OMIM:618031": "Corneal dystrophy, posterior polymorphous, 4", "OMIM:609141": "Corneal dystrophy, posterior polymorphous, 3", "OMIM:609140": "Corneal dystrophy, posterior polymorphous, 2", "OMIM:136800": "Corneal dystrophy, fuchs endothelial, 1", "OMIM:610158": "Corneal dystrophy, fuchs endothelial, 2", "OMIM:613270": "Corneal dystrophy, fuchs endothelial, 6", "OMIM:615523": "Corneal dystrophy, fuchs endothelial, 8", "OMIM:613267": "Corneal dystrophy, fuchs endothelial, 3", "OMIM:613268": "Corneal dystrophy, Fuchs endothelial, 4", "OMIM:600975": "Glaucoma 3, primary infantile, B", "OMIM:617272": "Glaucoma 3, primary congenital, E", "OMIM:613086": "Glaucoma 3, primary congenital, D", "OMIM:610535": "Glaucoma 1, open angle, M", "OMIM:137750": "Glaucoma 1, open angle, A", "OMIM:618415": "Cataract 48", "OMIM:616151": "Macular dystrophy, vitelliform, 4", "OMIM:153840": "Macular dystrophy, vitelliform, 1", "OMIM:616152": "Macular dystrophy, vitelliform, 5", "OMIM:169150": "Macular dystrophy, patterned, 1", "OMIM:608970": "Macular dystrophy, patterned, 2", "OMIM:267800": "Retinal dystrophy, reticular pigmentary, of posterior pole", "OMIM:179840": "Reticular dystrophy of retinal pigment epithelium", "OMIM:617175": "Retinal dystrophy with or without extraocular anomalies", "OMIM:300073": "Fetal akinesia syndrome, X-linked", "OMIM:618393": "Fetal akinesia deformation sequence 4", "OMIM:500001": "Leber optic atrophy and dystonia", "OMIM:119570": "Cleft soft palate", "OMIM:600348": "Band heterotopia", "OMIM:612300": "Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy", "OMIM:604625": "Tooth agenesis, selective, 3", "OMIM:616724": "Tooth agenesis, selective, 7", "OMIM:313500": "Tooth agenesis, selective, X-linked, 1", "OMIM:106600": "Tooth agenesis, selective, 1", "OMIM:617073": "Tooth agenesis, selective, 8", "OMIM:150400": "Tooth agenesis, selective, 4", "OMIM:550500": "Myoglobinuria, recurrent", "OMIM:268200": "Myoglobinuria, acute recurrent, autosomal recessive", "OMIM:613912": "Complement factor D deficiency", "OMIM:274230": "Thymoma, familial", "OMIM:145000": "Hyperparathyroidism 1", "OMIM:600166": "Hyperparathyroidism, primary, caused by water clear cell hyperplasia", "OMIM:617343": "Hyperparathyroidism 4", "OMIM:145001": "Hyperparathyroidism 2", "OMIM:610582": "Diabetes mellitus, transient neonatal, 3", "OMIM:610374": "Diabetes mellitus, transient neonatal 2", "OMIM:145300": "Hypersensitivity pneumonitis, familial", "OMIM:610048": "Corneal dystrophy, congenital stromal", "ORPHA:1695": "Non-distal trisomy 10q", "OMIM:235500": "Hemosiderosis, pulmonary, with deficiency of gamma-A globulin", "OMIM:614266": "Barrett esophagus", "OMIM:133239": "Esophageal cancer, somatic", "CCRD:19": "先天性肾上腺发育不良/Congenital adrenal hypoplasia; adrenal hypoplasia congenita; AHC", "CCRD:24": "冠状动脉扩张/Coronary artery ectasia; CAE", "CCRD:111": "脊髓小脑性共济失调/Spinocerebellar ataxia; SCA", "CCRD:9": "自身免疫性脑炎/Autoimmune encephalitis; AE", "CCRD:23": "先天性脊柱侧凸/Congenital scoliosis; CS", "CCRD:71": "甲基丙二酸血症; 甲基丙二酸尿症/Methylmalonic acidemia; MMA; Methylmalonic aciduria", "CCRD:2": "白化病/Albinism; Oculocutaneous albinism; OCA", "CCRD:100": "肺泡蛋白沉积症/Pulmonary alveolar proteinosis; PAP", "CCRD:49": "高苯丙氨酸血症/Hyperphenylalaninemia; HPA", "CCRD:53": "特发性低促性腺激素性性腺功能减退症/Idiopathic hypogonadotropicHypogonadism; IHH", "CCRD:72.4": "慢性进行性眼外肌麻痹（CPEO）/Chronic progressive external ophthalmoplegia; CPEO", "CCRD:45": "同型半胱氨酸血症; 同型半胱氨酸尿症/Homocysteinemia; Homocystinuria", "OMIM:210100": "Beta-aminoisobutyric acid, urinary excretion of", "OMIM:163600": "Nipples inverted", "OMIM:615763": "Cortical dysplasia, complex, with other brain malformations 5", "OMIM:177650": "Exfoliation syndrome", "OMIM:617935": "Epilepsy, familial focal, with variable foci 4", "OMIM:607539": "Camptosynpolydactyly, complex", "OMIM:618460": "Khan-Khan-Katsanis syndrome", "OMIM:264120": "Prolactin deficiency with obesity and enlarged testes", "OMIM:181800": "Scoliosis, idiopathic, susceptibility to, 1", "OMIM:207000": "Anosmia for isobutyric acid", "OMIM:611465": "Gallbladder disease 4", "OMIM:615771": "Cortical dysplasia, complex, with other brain malformations 6", "OMIM:617006": "Autoimmune disease, multisystem, infantile-onset, 2", "OMIM:273680": "Thanatophoric dysplasia, glasgow variant", "OMIM:609259": "Myopia 10", "OMIM:271109": "Spinal muscular atrophy with mental retardation", "OMIM:614195": "Craniofacial anomalies and anterior segment dysgenesis syndrome", "OMIM:263610": "Polyhydramnios, chronic idiopathic", "OMIM:603075": "Macular degeneration, age-related, 1", "OMIM:140700": "Heinz body anemias", "OMIM:187750": "Thoracic dysostosis, isolated", "OMIM:126320": "Distichiasis with congenital anomalies of the heart and peripheral", "OMIM:192700": "Venular insufficiency, systemic", "OMIM:602134": "Tremor, hereditary essential, 2", "OMIM:225700": "Encephalomalacia, multilocular", "OMIM:614501": "Psychomotor retardation, epilepsy, and craniofacial dysmorphism", "OMIM:206300": "Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane", "OMIM:204900": "Amyloidosis, cutaneous bullous", "OMIM:608089": "Endometrial carcinoma, somatic", "OMIM:606220": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects", "OMIM:618454": "Developmental delay with or without dysmorphic facies and autism", "OMIM:600593": "Craniosynostosis, Adelaide type", "OMIM:609944": "Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features", "OMIM:612310": "Premature ovarian failure 6", "OMIM:618142": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome", "OMIM:617308": "Bile acid synthesis defect, congenital, 6", "OMIM:616763": "Leukodystrophy and acquired microcephaly with or without dystonia", "OMIM:164100": "Nystagmus 2, congenital, autosomal dominant", "OMIM:613603": "Chromosome 4q32.1-q32.2 triplication syndrome", "OMIM:233600": "Immunodeficiency 59 and hypoglycemia", "OMIM:617180": "Chitayat syndrome", "OMIM:617306": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "OMIM:600335": "Succinic acidemia", "OMIM:121070": "Arthrogryposis, distal, type 2E", "OMIM:236300": "Hooft disease", "OMIM:612348": "Thrombophilia due to decreased release of tissue plasminogen", "OMIM:617439": "Craniosynostosis 7", "OMIM:170900": "Pernicious anemia", "OMIM:310470": "Neuropathy, hereditary sensory, X-linked", "OMIM:120500": "Commissural lip pits", "OMIM:618505": "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities", "OMIM:609616": "Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness", "OMIM:612097": "Deafness, unilateral, with delayed endolymphatic hydrops", "OMIM:113610": "Branchial myoclonus with spastic paraparesis and cerebellar ataxia", "OMIM:609500": "Myopathy, autophagic vacuolar, infantile-onset", "OMIM:607476": "Newfoundland rod-cone dystrophy", "OMIM:600202": "Dyslexia, susceptibility to, 2", "OMIM:218200": "Cranial nerves, recurrent paresis of", "OMIM:145100": "Hyperpigmentation of eyelids", "OMIM:618254": "Ciliary dyskinesia, primary, 39", "OMIM:617757": "Joubert syndrome 32", "OMIM:618143": "Glycosylphosphatidylinositol biosynthesis defect 18", "OMIM:616345": "Immunodeficiency 39", "OMIM:618065": "Pontocerebellar hypoplasia, type 1D", "OMIM:613873": "Cardiomyopathy, familial hypertrophic, 17", "OMIM:617532": "Intellectual developmental disorder with neuropsychiatric features", "OMIM:265950": "Pyloric atresia", "OMIM:121390": "Cornea guttata with anterior polar cataracts", "OMIM:615946": "Myopia 24, autosomal dominant", "OMIM:300209": "Simpson-Golabi-Behmel syndrome, type 2", "OMIM:153470": "Macrocephaly, benign familial", "OMIM:617767": "Joubert syndrome 33", "ORPHA:101070": "Bilateral frontoparietal polymicrogyria/Polymicrogyria, bilateral frontoparietal", "OMIM:606854": "Bilateral frontoparietal polymicrogyria/Polymicrogyria, bilateral frontoparietal", "OMIM:617796": "Intellectual developmental disorder, autosomal dominant 52", "OMIM:611376": "Mungan syndrome", "OMIM:607488": "Dystonia 15, myoclonic", "OMIM:154570": "Mannose 6-phosphate receptor recognition defect, Lebanese type", "OMIM:253590": "Muscular dystrophy, adult-onset, with leukoencephalopathy", "OMIM:149600": "Labia minora, incomplete adhesion of", "OMIM:600356": "Pachydermodactyly, familial", "OMIM:276800": "TYROSINOSIS", "ORPHA:1699": "Trisomy 12p", "OMIM:614294": "Chromosome 15q25 deletion syndrome", "OMIM:300719": "Deafness, cataract, retinitis pigmentosa, and sperm abnormalities", "OMIM:270425": "Sodium-Potassium-Atpase activity of red cell", "OMIM:617719": "Epiphyseal dysplasia, multiple, 7", "OMIM:610382": "Prosopagnosia, hereditary", "OMIM:618180": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "OMIM:251230": "Microcephaly-micromelia syndrome", "OMIM:136570": "Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included", "OMIM:147430": "Marsili syndrome", "OMIM:617182": "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia", "ORPHA:17": "Fatal infantile lactic acidosis with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)", "OMIM:245400": "Fatal infantile lactic acidosis with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)", "OMIM:189490": "Tooth malformation", "OMIM:212160": "Carnitine deficiency, myopathic", "OMIM:172150": "6-@phosphogluconolactonase deficiency", "OMIM:128710": "Ear pits, posterior helical", "OMIM:125540": "Dermal ridges, patternless", "OMIM:180750": "Robinow-Sorauf syndrome", "OMIM:193007": "Vestibulopathy, familial", "OMIM:609808": "Hamartoma, precalcaneal congenital fibrolipomatous", "OMIM:616818": "Iga nephropathy, susceptibility to, 3", "ORPHA:170": "Woolly hair/Woolly hair, autosomal dominant", "OMIM:194300": "Woolly hair/Woolly hair, autosomal dominant", "OMIM:618358": "Cone-rod dystrophy and hearing loss 2", "OMIM:618369": "Spinocerebellar ataxia, autosomal recessive 27", "OMIM:275240": "Tinea imbricata, susceptibility to", "OMIM:213500": "Cerebral angiopathy, dysphoric", "OMIM:614541": "Chromosome 16q22 deletion syndrome", "OMIM:126250": "Distal osteosclerosis", "OMIM:194200": "Wolff-Parkinson-White syndrome", "OMIM:152420": "Lithium transport", "OMIM:618328": "Epileptic encephalopathy, early infantile, 71", "OMIM:612227": "Diabetes mellitus, ketosis-prone", "ORPHA:1702": "Non-distal trisomy 13q", "OMIM:616459": "Al-Raqad syndrome", "OMIM:177900": "Psoriasis 1, susceptibility to", "OMIM:129750": "Ectopia pupillae", "OMIM:275370": "Tricarboxylic acid cycle, defect of", "OMIM:616351": "Mental retardation, autosomal dominant 34", "OMIM:153890": "Macular dystrophy, fenestrated Sheen type", "OMIM:306300": "Granulomas, congenital cerebral", "OMIM:300659": "Mental retardation, X-linked 93", "ORPHA:1703": "Mosaic trisomy 14", "OMIM:616896": "Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)", "OMIM:617223": "Sudden cardiac failure, alcohol-induced", "OMIM:618284": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum", "OMIM:275000": "Graves disease", "OMIM:220900": "Deafness, congenital, with total albinism", "OMIM:309930": "Muscular dystrophy, Cardiac type", "OMIM:134300": "Facial spasm", "OMIM:175750": "Popliteal cyst", "OMIM:127750": "Dementia, lewy body", "ORPHA:1705": "Distal trisomy 14q", "OMIM:272000": "Sucrosuria, hiatus hernia and mental retardation", "OMIM:608638": "Asperger syndrome, susceptibility to, 1", "OMIM:608118": "Zinc deficiency, transient neonatal", "OMIM:613659": "Gastric cancer, somatic", "OMIM:601608": "Spastic paraplegia and Evans syndrome", "OMIM:613005": "Santos syndrome", "OMIM:618527": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features", "OMIM:618287": "Mucocutaneous ulceration, chronic", "ORPHA:1706": "Mosaic trisomy 15", "OMIM:617931": "Spinocerebellar ataxia 47", "OMIM:260970": "Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and", "OMIM:618282": "Hyper-IgE recurrent infection syndrome 3, autosomal recessive", "OMIM:235750": "Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect", "OMIM:143465": "Attention deficit-hyperactivity disorder", "OMIM:617087": "Charcot-Marie-Tooth disease, axonal, type 2A2B", "OMIM:314000": "Thrombocytopenia with elevated serum IgA and renal disease", "OMIM:264500": "Pseudouridinuria and mental defect", "OMIM:128600": "Ear malformation", "OMIM:617807": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "ORPHA:1707": "Distal trisomy 15q", "OMIM:126900": "Dupuytren contracture 1", "OMIM:249670": "Mesoaxial hexadactyly and cardiac malformation", "OMIM:618440": "Oculoskeletodental syndrome", "OMIM:125853": "Diabetes mellitus, noninsulin-dependent", "OMIM:238340": "HYPERLEUCINE-ISOLEUCINEMIA", "OMIM:618283": "Visual impairment and progressive phthisis bulbi", "OMIM:158400": "Muscle cramps, familial", "OMIM:617898": "Multiple synostoses syndrome 4", "OMIM:251280": "Microcephaly, seizures, spasticity, and brain calcifications", "OMIM:617877": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", "OMIM:602080": "Paget disease of bone 2, early-onset", "OMIM:107650": "Apnea, obstructive sleep", "OMIM:147540": "Insect stings, hypersensitivity to", "OMIM:611284": "Dystonia, focal, task-specific", "OMIM:123320": "Creatine phosphokinase, elevated serum", "ORPHA:171": "Primary sclerosing cholangitis", "OMIM:606895": "Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch", "OMIM:157400": "Milia, multiple eruptive", "OMIM:107640": "Apnea, central sleep", "OMIM:606528": "Homozygous 11p15-p14 deletion syndrome", "OMIM:618285": "Developmental and epileptic encephalopathy 69", "OMIM:137040": "Gallbladder, agenesis of", "OMIM:184700": "Polycystic ovary syndrome 1", "OMIM:300989": "Meester-Loeys syndrome", "OMIM:612917": "Giacheti syndrome", "OMIM:126840": "DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION", "OMIM:617027": "Hyperaldosteronism, familial, type IV", "OMIM:235900": "Histiocytosis, familial lipochrome", "OMIM:601389": "Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction", "OMIM:101840": "Acrokeratoderma, hereditary papulotranslucent", "OMIM:400003": "Deleted in azoospermia", "OMIM:186750": "Talonavicular coalition", "OMIM:616948": "Spinocerebellar ataxia, autosomal recessive 22", "OMIM:617602": "Congenital heart defects and skeletal malformations syndrome", "OMIM:618160": "Pituitary hormone deficiency, combined or isolated, 7", "OMIM:120300": "Coloboma of macula", "OMIM:136580": "Fragile site 16q22", "OMIM:204800": "AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF", "OMIM:614728": "Seckel syndrome 6", "OMIM:617921": "Amyotrophic lateral sclerosis, susceptibility to, 25", "OMIM:617018": "Spinocerebellar ataxia 43", "OMIM:164800": "Nail disorder, nonsyndromic congenital, 5", "OMIM:600858": "Cardiomyopathy, familial hypertrophic, 6", "OMIM:271500": "Splenoportal vascular anomalies", "OMIM:268010": "Retinitis pigmentosa inversa with deafness", "OMIM:158280": "Motion sickness", "OMIM:610338": "Right pulmonary artery, anomalous origin of, familial", "OMIM:258470": "Ophthalmoplegic neuromuscular disorder with abnormal mitochondria", "OMIM:278200": "Woolly hair, hypotrichosis, everted lower lip, and outstanding ears", "OMIM:162370": "Neuropathy, congenital, with arthrogryposis multiplex", "OMIM:313000": "Spatial visualization, aptitude for", "OMIM:211980": "Lung cancer, susceptibility to", "OMIM:600263": "Helicobacter pylori infection, susceptibility to", "OMIM:179650": "Red cell permeability defect", "OMIM:618501": "Cerebellar atrophy with seizures and variable developmental delay", "OMIM:618067": "Epileptic encephalopathy, early infantile, 66", "OMIM:209600": "Atrioventricular dissociation", "OMIM:618096": "Premature ovarian failure 15", "OMIM:618158": "Intellectual developmental disorder with macrocephaly, seizures, and speech delay", "OMIM:425500": "HAIRY EARS, Y-LINKED", "OMIM:617441": "Thrombocytopenia, anemia, and myelofibrosis", "OMIM:163100": "Nevus flammeus of nape of neck", "OMIM:147892": "Deiodinase, iodothyronine, type I", "OMIM:255500": "Myopia, infantile severe", "OMIM:257400": "Nystagmus, congenital motor, autosomal recessive", "OMIM:277100": "VALINEMIA", "OMIM:608257": "Mandibulofacial dysostosis with ptosis, autosomal dominant", "OMIM:610209": "Migraine with or without aura, susceptibility to, 11", "OMIM:617609": "Nephrotic syndrome, type 15", "OMIM:300807": "Thrombophilia, X-linked, due to factor IX defect", "OMIM:617752": "Mental retardation, autosomal dominant 49", "ORPHA:1713": "17p11.2 microduplication syndrome/Potocki-Lupski syndrome", "OMIM:610883": "17p11.2 microduplication syndrome/Potocki-Lupski syndrome", "OMIM:233270": "Gombo syndrome", "OMIM:169000": "Patella, familial recurrent dislocation of", "OMIM:617056": "Tubulointerstitial kidney disease, autosomal dominant, 5", "OMIM:108700": "Ataxia with fasciculations", "OMIM:615612": "Developmental dysplasia of the hip 2", "OMIM:617983": "Microcephaly 21, primary, autosomal recessive", "OMIM:617711": "Developmental and epileptic encephalopathy 91", "OMIM:259650": "Osteoma of middle ear", "OMIM:277150": "Van bogaert-hozay syndrome", "OMIM:617432": "Intellectual developmental disorder, autosomal recessive 60", "ORPHA:171430": "Severe congenital nemaline myopathy", "OMIM:100700": "Achard syndrome", "OMIM:614227": "Hyperuricemic nephropathy, familial juvenile, 3", "OMIM:127100": "Dwarfism, Levi type", "OMIM:191600": "Ureter, cancer of", "OMIM:600257": "Bor-Duane hydrocephalus contiguous gene syndrome", "OMIM:608984": "Ataxia, sensory, autosomal dominant", "OMIM:123557": "Cryptotia, familial", "OMIM:615412": "Cortical dysplasia, complex, with other brain malformations 4", "OMIM:616407": "Brown syndrome", "ORPHA:171433": "Intermediate nemaline myopathy", "OMIM:208550": "Asthma, nasal polyps, and aspirin intolerance", "OMIM:618511": "Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy", "OMIM:131400": "Eosinophilia, familial", "OMIM:605462": "Basal cell carcinoma, susceptibility to, 1", "OMIM:601811": "Premature aging syndrome, Okamoto type", "OMIM:618371": "Turnpenny-Fry syndrome", "OMIM:260450": "Pancreatic insufficiency, combined exocrine", "OMIM:276100": "Tryptophanuria with dwarfism", "OMIM:191650": "URETEROCELE", "ORPHA:171436": "Typical nemaline myopathy", "OMIM:212790": "Premature centromere division", "OMIM:273390": "Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities", "OMIM:612885": "Premature ovarian failure 10", "OMIM:609257": "Myopia 8", "OMIM:130700": "Emphysema, hereditary pulmonary", "OMIM:125600": "Dermatosis papulosa nigra", "OMIM:617236": "Cone-rod dystrophy and hearing loss", "OMIM:617643": "Cerebellar atrophy, developmental delay, and seizures", "ORPHA:101075": "X-linked Charcot-Marie-Tooth disease type 1/Charcot-Marie-Tooth neuropathy, X-linked dominant, 1", "OMIM:302800": "X-linked Charcot-Marie-Tooth disease type 1/Charcot-Marie-Tooth neuropathy, X-linked dominant, 1", "ORPHA:171439": "Childhood-onset nemaline myopathy", "OMIM:272450": "Syndesmodysplasic dwarfism", "OMIM:139630": "Hairy nose tip", "OMIM:606053": "Intellectual developmental disorder with autism and speech delay", "OMIM:215050": "Chondrodysplasia calcificans metaphysealis", "OMIM:618076": "Neurodevelopmental disorder with spasticity and poor growth", "OMIM:136600": "Friedreich ataxia, so-called, with optic atrophy and sensorineuraldeafness", "OMIM:612717": "Myopia 15", "OMIM:114500": "Colorectal cancer", "ORPHA:171442": "Adult-onset nemaline myopathy", "OMIM:613243": "Cardiomyopathy, familial hypertrophic, 13", "OMIM:617145": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "OMIM:117850": "Cervical hypertrichosis with underlying kyphoscoliosis", "OMIM:159500": "Myelinated optic nerve fibers", "OMIM:187000": "Teeth, odd shapes oflobodontia, included", "OMIM:616833": "Paget disease of bone 6", "OMIM:600987": "Cleft palate, cardiac defects, and mental retardation", "OMIM:615724": "Premature ovarian failure 9", "OMIM:186575": "Synovial chondromatosis, familial, with dwarfism", "OMIM:609524": "Filaminopathy, autosomal dominant", "OMIM:212890": "Cerebellar ataxia, benign, with thermoanalgesia", "OMIM:613671": "Mental retardation, anterior maxillary protrusion, and strabismus", "OMIM:610279": "Pachygyria, frontotemporal", "OMIM:300997": "Mental retardation, X-linked 106", "OMIM:166740": "Osteosclerosis with ichthyosis and fractures", "OMIM:605388": "Cerebral palsy, ataxic, autosomal recessive", "OMIM:601344": "Spinal dysplasia, Anhalt type", "ORPHA:1715": "Trisomy 18p", "OMIM:606798": "Blepharospasm, benign essential, susceptibility to", "OMIM:618496": "Aortic valve disease 3", "OMIM:118750": "Choreoathetosis, familial inverted", "OMIM:616981": "Epileptic encephalopathy, early infantile, 37", "OMIM:185200": "Striae distensae, familial", "OMIM:617321": "Yao syndrome", "OMIM:194320": "Woronets trait", "OMIM:617478": "Structural heart defects and renal anomalies syndrome", "ORPHA:1716": "Distal trisomy 18q", "OMIM:182970": "Spinal muscular atrophy, Facioscapulohumeral type", "OMIM:171450": "Phlebectasia of lips", "OMIM:602068": "Leishmaniasis, tegumentary", "OMIM:616170": "Macular dystrophy with central cone involvement", "OMIM:176780": "Pelvic organ prolapse", "OMIM:113301": "Brachydactyly, type e, with atrial septal defect, type II", "OMIM:616045": "Combined oxidative phosphorylation deficiency 22", "OMIM:609258": "Myopia 9", "ORPHA:171607": "X-linked spastic paraplegia type 34/Spastic paraplegia 34, X-linked", "OMIM:300750": "X-linked spastic paraplegia type 34/Spastic paraplegia 34, X-linked", "OMIM:602723": "Psoriasis 2", "OMIM:618170": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "OMIM:612354": "Inflammatory bowel disease 21", "OMIM:618329": "Combined oxidative phosphorylation deficiency 37", "OMIM:171420": "Pheochromocytoma-Islet cell tumor syndrome", "OMIM:177700": "Glaucoma 1, open angle, P", "OMIM:103780": "Alcohol dependence", "ORPHA:171612": "Autosomal dominant spastic paraplegia type 37/Spastic paraplegia 37, autosomal dominant", "OMIM:611945": "Autosomal dominant spastic paraplegia type 37/Spastic paraplegia 37, autosomal dominant", "OMIM:606242": "Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism", "OMIM:616733": "Coenzyme Q10 deficiency, primary, 8", "OMIM:231630": "Glutamate monosodium sensitivity", "OMIM:151500": "Leukocyte nuclear appendages, hereditary prevalence of", "OMIM:618182": "Orthostatic hypotension 2", "OMIM:618386": "Amelogenesis imperfecta, type IIIC", "OMIM:137500": "Giant neutrophil leukocytes", "OMIM:236450": "Hutterite cerebroosteonephrodysplasia syndrome", "ORPHA:171617": "Autosomal dominant spastic paraplegia type 38/Spastic paraplegia 38, autosomal dominant", "OMIM:612335": "Autosomal dominant spastic paraplegia type 38/Spastic paraplegia 38, autosomal dominant", "OMIM:618091": "Spermatogenic failure 29", "OMIM:600757": "Orofacial cleft 3", "OMIM:188050": "Thrombophiliavenous thromboembolism, included", "OMIM:618453": "Intellectual developmental disorder with short stature and variable skeletal anomalies", "OMIM:618187": "Ovarian dysgenesis 8", "OMIM:612124": "Cardiomyopathy, familial hypertrophic, 12", "OMIM:272120": "Sudden infant death syndrome", "OMIM:310700": "Nystagmus 1, congenital, X-linked", "OMIM:615554": "Multiple fibroadenomas of the breast", "OMIM:618346": "Microcephaly, growth deficiency, seizures, and brain malformations", "ORPHA:171622": "Autosomal recessive spastic paraplegia type 32/Spastic paraplegia 32, autosomal recessive", "OMIM:611252": "Autosomal recessive spastic paraplegia type 32/Spastic paraplegia 32, autosomal recessive", "OMIM:607944": "Spondyloenchondrodysplasia with immune dysregulation", "OMIM:183500": "Split-Hand and split-foot with hypodontia", "OMIM:192310": "Vasculitis, lymphocytic, nodular", "OMIM:157950": "Molar I reinclusion", "OMIM:618010": "Glycosylphosphatidylinositol biosynthesis defect 17", "OMIM:601372": "Chorea, remitting, with nystagmus and cataract", "OMIM:258660": "Nonarteritic anterior ischemic optic neuropathy, susceptibility to", "OMIM:617783": "Nephrotic syndrome, type 16", "ORPHA:171629": "Autosomal recessive spastic paraplegia type 35/Spastic paraplegia 35, autosomal recessive", "OMIM:612319": "Autosomal recessive spastic paraplegia type 35/Spastic paraplegia 35, autosomal recessive", "OMIM:618291": "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant", "OMIM:617392": "Ectodermal dysplasia 13, Hair/tooth type", "OMIM:617950": "Combined oxidative phosphorylation deficiency 36", "OMIM:261500": "Eosinophil peroxidase deficiency", "OMIM:100200": "Abducens palsy", "OMIM:184300": "Spondylosis, cervical", "OMIM:239199": "Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria", "OMIM:157300": "Migraine with or without aura, susceptibility to, 1", "ORPHA:101076": "X-linked Charcot-Marie-Tooth disease type 2/Charcot-Marie-Tooth disease, X-linked recessive, 2", "OMIM:302801": "X-linked Charcot-Marie-Tooth disease type 2/Charcot-Marie-Tooth disease, X-linked recessive, 2", "OMIM:175505": "Polyposis of gastric fundus without polyposis coli", "OMIM:600501": "ABCD syndrome", "OMIM:617563": "Orofaciodigital syndrome XVI", "OMIM:602477": "Febrile seizures, familial, 2", "OMIM:143850": "Orthostatic hypotensive disorder, Streeten type", "OMIM:616214": "Hyperproinsulinemia", "OMIM:131880": "Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase", "OMIM:617771": "Developmental and epileptic encephalopathy 57", "OMIM:618280": "Cardiac-Urogenital syndrome", "OMIM:618331": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis", "OMIM:251700": "Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies", "OMIM:614676": "Cardiomyopathy, familial hypertrophic, 21", "OMIM:616503": "Lethal congenital contracture syndrome 9", "OMIM:137580": "Gilles de la tourette syndrome", "OMIM:618459": "Immunodeficiency 62", "OMIM:262710": "Pituitary dwarfism with large sella turcica", "OMIM:193520": "Watson syndrome", "OMIM:618412": "Global developmental delay, progressive ataxia, and elevated glutamine", "OMIM:107550": "Aortic arch interruption, facial palsy, and retinal coloboma", "ORPHA:171680": "Lissencephaly due to TUBA1A mutation/Lissencephaly 3", "OMIM:611603": "Lissencephaly due to TUBA1A mutation/Lissencephaly 3", "OMIM:229500": "Fructose and galactose intolerance", "OMIM:259270": "Osteodysplasty, precocious, of danks, mayne, and kozlowski", "OMIM:617690": "Ovarian dysgenesis 5", "OMIM:618416": "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression", "OMIM:311000": "Ophthalmoplegia, external, and myopia", "OMIM:119530": "Orofacial cleft 1", "OMIM:608244": "Otosclerosis 3", "OMIM:305690": "Genitourinary tract anomalies", "OMIM:132990": "Erythema nodosum, familial", "OMIM:618546": "Trichothiodystrophy 7, nonphotosensitive", "OMIM:617788": "Intellectual developmental disorder, autosomal dominant 51", "OMIM:614101": "Plasma fibronectin deficiency", "OMIM:613765": "Cardiomyopathy, familial hypertrophic, 9", "OMIM:618336": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "OMIM:617270": "Mental retardation, autosomal recessive 58", "OMIM:609945": "Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia", "OMIM:206570": "Angiomatosis, diffuse corticomeningeal, of divry and van bogaert", "OMIM:601357": "Brachial amelia, cleft lip, and holoprosencephaly", "OMIM:245340": "Erythrocyte lactate transporter defect", "OMIM:114600": "Canine teeth, absence of upper permanent", "OMIM:618462": "Bleeding disorder, platelet-type, 22", "OMIM:191200": "Tune deafness", "OMIM:618419": "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy", "OMIM:223350": "Dohle bodies and leukemia", "OMIM:603776": "Hypercholesterolemia, familial, 3", "OMIM:150699": "Leiomyoma, uterine", "OMIM:617050": "Hermansky-Pudlak syndrome 10", "OMIM:618400": "Charcot-Marie-Tooth disease, axonal, type 2EE", "OMIM:308750": "Kallmann syndrome with spastic paraplegia", "ORPHA:171695": "Parkinsonian-pyramidal syndrome/Parkinson disease 15, autosomal recessive early-onset", "OMIM:260300": "Parkinsonian-pyramidal syndrome/Parkinson disease 15, autosomal recessive early-onset", "OMIM:300577": "Mental retardation, X-linked 91", "OMIM:611706": "Migraine with or without aura, susceptibility to, 12", "OMIM:158345": "Multiple exostoses with spastic tetraparesis", "OMIM:609256": "Myopia 7", "OMIM:618276": "Neurodegeneration, childhood-onset, with cerebellar atrophy", "OMIM:606631": "Camurati-engelmann disease, type 2", "OMIM:129840": "Edema, familial idiopathic, prepubertal", "OMIM:617235": "Myoclonus, intractable, neonatal", "OMIM:310095": "Muscular dystrophy, progressive pectorodorsal", "OMIM:148200": "Keratoendotheliitis fugax hereditaria", "OMIM:601341": "Atrophia maculosa varioliformis cutis, familial", "OMIM:143400": "Congenital anomalies of kidney and urinary tract 2", "OMIM:616685": "Epilepsy, idiopathic generalized, susceptibility to, 14", "OMIM:238350": "HYPERLEXIA", "OMIM:602418": "Weyers ulnar ray/oligodactyly syndrome", "OMIM:606712": "Specific language impairment 2", "OMIM:604809": "Panbronchiolitis, diffuse", "OMIM:607597": "Microphthalmia with cyst, bilateral facial clefts, and limb anomalies", "OMIM:618497": "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements", "OMIM:618512": "O'donnell-Luria-Rodan syndrome", "OMIM:178651": "Pulmonic stenosis and deafness", "OMIM:226500": "Epidermolysis bullosa dystrophica neurotrophica", "OMIM:613282": "Fatty liver disease, nonalcoholic, susceptibility to, 1", "OMIM:617052": "Bone marrow failure syndrome 3", "OMIM:182830": "Spastic paraplegia, optic atrophy, and dementia", "OMIM:209050": "Athrombia, essential", "ORPHA:171703": "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome", "OMIM:618270": "Congenital anomalies of kidney and urinary tract 3", "OMIM:614034": "Heme oxygenase-1 deficiency", "OMIM:606688": "Spongiform encephalopathy with neuropsychiatric features", "OMIM:146720": "Ichthyosis-Cheek-Eyebrow syndrome", "OMIM:140300": "Hashimoto thyroiditis", "OMIM:140500": "Heart, malformation of", "OMIM:614278": "Platelet-Activating factor acetylhydrolase deficiency", "OMIM:236130": "HOMOCARNOSINOSIS", "ORPHA:171706": "Short stature-delayed bone age due to thyroid hormone metabolism deficiency/Thyroid hormone metabolism, abnormal", "OMIM:609698": "Short stature-delayed bone age due to thyroid hormone metabolism deficiency/Thyroid hormone metabolism, abnormal", "OMIM:613255": "Cardiomyopathy, familial hypertrophic, 15", "OMIM:613124": "Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features", "OMIM:128500": "Ear folding", "OMIM:312863": "Combined immunodeficiency, X-linked", "OMIM:137760": "Glaucoma, primary open angle", "OMIM:618493": "Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities", "OMIM:211369": "Brachydactyly, type A2, with microcephaly", "ORPHA:101077": "X-linked Charcot-Marie-Tooth disease type 3/Charcot-Marie-Tooth disease, X-linked recessive, 3", "OMIM:302802": "X-linked Charcot-Marie-Tooth disease type 3/Charcot-Marie-Tooth disease, X-linked recessive, 3", "OMIM:301022": "Neurodevelopmental disorder, X-linked, with craniofacial abnormalities", "OMIM:617480": "46,xx sex reversal 4", "OMIM:266140": "Pyropoikilocytosis, hereditary", "OMIM:126070": "Dilution, pigmentary", "OMIM:609223": "Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype", "OMIM:108000": "Arteries, anomalies of", "OMIM:600511": "Schizophrenia 3", "OMIM:306930": "Hemopoietic proliferation", "OMIM:600989": "Infundibulopelvic dysgenesis", "OMIM:125900": "Diastema, dental medial", "OMIM:302400": "Central incisors, absence of", "OMIM:610698": "Macular degeneration, age-related, 4", "ORPHA:171719": "Cutis laxa-Marfanoid syndrome/Cutis laxa, neonatal, with marfanoid phenotype", "OMIM:614100": "Cutis laxa-Marfanoid syndrome/Cutis laxa, neonatal, with marfanoid phenotype", "OMIM:240800": "Hypoglycemia of infancy, leucine-sensitive", "OMIM:125000": "Deafness, unilateral", "OMIM:301029": "Shukla-Vernon syndrome", "OMIM:617780": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "OMIM:617694": "Al Kaissi syndrome", "OMIM:618048": "Proteasome-Associated autoinflammatory syndrome 2", "OMIM:145590": "Hyperthermia, cutaneous, with headaches and nausea", "OMIM:212090": "Cardiac septal defects with coarctation of the aorta", "OMIM:193900": "White sponge nevus 1", "OMIM:608049": "Autism, susceptibility to, 3", "OMIM:223500": "Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone", "OMIM:617959": "Spermatogenic failure 24", "OMIM:302803": "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia", "OMIM:613876": "Cardiomyopathy, familial hypertrophic, 20", "OMIM:246570": "Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "OMIM:617933": "Epileptic encephalopathy, early infantile, 61", "OMIM:617800": "Microcephaly 19, primary, autosomal recessive", "ORPHA:171829": "6q16 microdeletion syndrome", "OMIM:612731": "Faciocardiomelic syndrome", "OMIM:135580": "Fibromuscular dysplasia of arteries", "OMIM:614623": "Keratoconus 6", "OMIM:242880": "Immunoerythromyeloid hypoplasia", "OMIM:618061": "Polycystic kidney disease 6 with or without polycystic liver disease", "OMIM:608758": "Cardiomyopathy, familial hypertrophic, 10", "OMIM:160300": "Myopathy, distal, infantile-onset", "OMIM:618316": "Intellectual developmental disorder with cardiac defects and dysmorphic facies", "ORPHA:171839": "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome", "OMIM:257350": "Nuchal bleb, familial", "OMIM:601004": "Portal vein, cavernous transformation of", "OMIM:601346": "Martinez-Frias syndrome", "OMIM:243110": "INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO", "OMIM:253240": "Mucus inspissation of respiratory tract", "OMIM:300861": "Mental retardation, X-linked, syndromic, Chudley-Schwartz type", "OMIM:106230": "Aniridia, microcornea, and spontaneously reabsorbed cataract", "OMIM:178350": "Pubic bone dysplasia", "ORPHA:171844": "Blindness-scoliosis-arachnodactyly syndrome", "OMIM:156520": "Metatarsus varus, type I", "OMIM:126500": "Double nail for fifth toe", "OMIM:607508": "Migraine with or without aura, susceptibility to, 5", "OMIM:613229": "TRICHOTILLOMANIA", "OMIM:260650": "Pellagra-Like syndrome", "OMIM:300602": "Clark-Baraitser syndrome", "OMIM:142690": "Acne inversa, familial", "OMIM:112370": "Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay", "OMIM:612674": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "OMIM:617928": "Keratoconus 9", "OMIM:614782": "Tremor, hereditary essential, 4", "OMIM:601466": "Patent ductus venosus", "OMIM:615789": "Short stature with microcephaly and distinctive facies", "OMIM:202600": "Agenesis of cerebral white matter", "OMIM:169200": "Pechet factor deficiency", "OMIM:227150": "Ethanolaminosis", "OMIM:617787": "Mental retardation, autosomal dominant 50", "ORPHA:171851": "MEDNIK syndrome/Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "OMIM:609313": "MEDNIK syndrome/Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "OMIM:130200": "Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon", "OMIM:254100": "Muscular dystrophy, congenital, with rapid progression", "OMIM:183100": "Spinocerebellar atrophy with pupillary paralysis", "OMIM:300422": "Fg syndrome 4", "OMIM:614164": "Glutathione peroxidase deficiency", "OMIM:180295": "Rhabdomyosarcoma, embryonal, 2", "OMIM:300676": "Mental retardation, X-linked, syndromic 14", "OMIM:618022": "Humerofemoral hypoplasia with radiotibial ray deficiency", "OMIM:276200": "T-SUBSTANCE ANOMALY", "OMIM:617951": "Leukodystrophy, hypomyelinating, 15", "OMIM:258800": "Oral sensibility, disturbance of", "OMIM:613100": "Glaucoma 1, open angle, O", "OMIM:218650": "Craniosynostosis-Mental retardation-clefting syndrome", "OMIM:617954": "Multiple mitochondrial dysfunctions syndrome 6", "OMIM:193005": "Vestibulocochlear dysfunction, progressive", "OMIM:258360": "Onychotrichodysplasia and neutropenia", "OMIM:617695": "Pontocerebellar hypoplasia, type 11", "ORPHA:101078": "X-linked Charcot-Marie-Tooth disease type 4/Cowchock syndrome", "OMIM:310490": "X-linked Charcot-Marie-Tooth disease type 4/Cowchock syndrome", "ORPHA:171863": "Autosomal dominant spastic paraplegia type 42/Spastic paraplegia 42, autosomal dominant", "OMIM:612539": "Autosomal dominant spastic paraplegia type 42/Spastic paraplegia 42, autosomal dominant", "OMIM:614158": "Bleeding disorder, platelet-type, 14", "OMIM:608902": "Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included", "OMIM:243100": "Internal carotid arteries, hypoplasia of", "OMIM:190200": "Tremor of intention, ataxia, and lipofuscinosis", "OMIM:310000": "Muscular dystrophy, Mabry type", "OMIM:161480": "Nasal bones, absence of", "OMIM:607850": "Hand osteoarthritis", "OMIM:616260": "Tenorio syndrome", "ORPHA:171866": "Spondyloepimetaphyseal dysplasia, aggrecan type/Spondyloepimetaphyseal dysplasia, Aggrecan type", "OMIM:612813": "Spondyloepimetaphyseal dysplasia, aggrecan type/Spondyloepimetaphyseal dysplasia, Aggrecan type", "OMIM:613944": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2", "OMIM:618476": "Brain abnormalities, neurodegeneration, and dysosteosclerosis", "OMIM:606963": "Pulmonary disease, chronic obstructive", "OMIM:600080": "Myelocytic leukemia-like syndrome, familial, chronic", "OMIM:150550": "Periodic fever, immunodeficiency, and thrombocytopenia syndrome", "OMIM:616219": "Fibrosis of extraocular muscles, congenital, 5", "OMIM:263600": "Polysaccharide, storage of unusual", "OMIM:177735": "Pseudohypoaldosteronism, type I, autosomal dominant", "OMIM:128300": "Ear exostoses", "OMIM:173450": "Platelet factor 3 deficiency", "OMIM:133240": "Esophageal ring, lower", "OMIM:617952": "Osteogenesis imperfecta, type XVIII", "OMIM:209100": "Atonic-Astatic syndrome of foerster", "OMIM:181510": "Schizophrenia 1", "OMIM:617402": "Cutis laxa, autosomal recessive, type IIC", "ORPHA:171876": "Generalized pseudohypoaldosteronism type 1/Pseudohypoaldosteronism, type I, autosomal recessive", "OMIM:264350": "Generalized pseudohypoaldosteronism type 1/Pseudohypoaldosteronism, type I, autosomal recessive", "OMIM:266400": "Reese retinal dysplasia", "OMIM:609438": "Mental retardation, keratoconus, febrile seizures, and sinoatrialblock", "OMIM:128700": "Preauricular fistulae, congenital", "OMIM:617364": "Congenital heart defects and ectodermal dysplasia", "OMIM:225310": "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality", "OMIM:136630": "Intellectual developmental disorder, autosomal dominant, FRA12A type", "OMIM:128290": "Ear antitragus, tag at base of", "OMIM:273000": "Teeth, fused", "ORPHA:171881": "Cap myopathy", "OMIM:617547": "Retinal dystrophy with or without macular staphyloma", "OMIM:618113": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "OMIM:208060": "Arteriosclerosis, severe juvenile", "OMIM:617537": "Rahman syndrome", "OMIM:185600": "Symphalangism of toes", "OMIM:137050": "Gamma-A-Globulin, defect in assembly of", "OMIM:616839": "Exercise intolerance, riboflavin-responsive", "OMIM:300814": "Nystagmus 6, congenital, X-linked", "OMIM:241000": "Hypogonadism with low-grade mental deficiency and microcephaly", "OMIM:618268": "Trichohepatoneurodevelopmental syndrome", "OMIM:618300": "Ciliary dyskinesia, primary, 40", "OMIM:244600": "Keratoconus posticus circumscriptus", "OMIM:245552": "Lambotte syndrome", "OMIM:616944": "Mental retardation, autosomal dominant 41", "OMIM:238800": "Hypermetabolism due to defect in mitochondria", "OMIM:142350": "Hernia, double inguinal", "OMIM:312210": "Radiation sensitivity of natural killer activity", "OMIM:190600": "Triphalangeal thumb, nonopposable", "OMIM:605552": "Abdominal obesity-metabolic syndrome 1", "OMIM:617865": "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "OMIM:276822": "Ulnar agenesis and endocardial fibroelastosis", "OMIM:617281": "Epileptic encephalopathy, early infantile, 49", "OMIM:618522": "Intellectual developmental disorder 59", "OMIM:618404": "Leukodystrophy, hypomyelinating, 18", "OMIM:121350": "Coracoclavicular joint, anomalous", "OMIM:609654": "Short stature and facioauriculothoracic malformations", "OMIM:618384": "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate", "OMIM:118005": "Cervical vertebral dysplasia", "OMIM:617339": "Epileptic encephalopathy, early infantile, 51", "OMIM:618418": "Spastic paraplegia 80, autosomal dominant", "OMIM:179500": "Raindrop hypopigmentation", "OMIM:219600": "Cystic disease of lung", "OMIM:166970": "Ovarian fibromata", "OMIM:617184": "Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant", "OMIM:118350": "Chemodectoma, intraabdominal, with cutaneous angiolipomas", "OMIM:618381": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome", "OMIM:608624": "Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia", "OMIM:190420": "Triglyceride storage disease, type I", "OMIM:617237": "Immunodeficiency 49", "OMIM:601666": "Diabetes mellitus, insulin-dependent, 15", "OMIM:611634": "Febrile convulsions, familial, 9", "OMIM:277730": "Wernicke-Korsakoff syndrome", "OMIM:179700": "Red cell phospholipid defect with hemolysis", "OMIM:150270": "Laryngeal adductor paralysis", "OMIM:303800": "Colorblindness, deutan", "OMIM:250300": "Metaphyseal chondrodysplasia, Pena type", "OMIM:601331": "Renal dysplasia, cystic, susceptibility to", "OMIM:177350": "Pseudoatrophoderma colli", "OMIM:175400": "Polyposis, intestinal, scattered and discrete", "OMIM:617964": "Leukodystrophy, hypomyelinating, 16", "OMIM:126950": "Dwarfism with tall vertebrae", "ORPHA:101081": "Charcot-Marie-Tooth disease type 1A/Charcot-Marie-Tooth disease, demyelinating, type 1A", "OMIM:118220": "Charcot-Marie-Tooth disease type 1A/Charcot-Marie-Tooth disease, demyelinating, type 1A", "OMIM:617772": "Deafness, autosomal dominant 34, with or without inflammation", "OMIM:156220": "Meralgia paraesthetica, familial", "OMIM:613776": "Chromosome 17p13.1 deletion syndrome", "OMIM:616902": "Chromosome 11P13 deletion syndrome, distal", "OMIM:271220": "Spinal muscular atrophy, scapuloperoneal", "OMIM:300619": "Cataract, ataxia, short stature, and mental retardation", "OMIM:179010": "Pyloric stenosis, infantile hypertrophic 1", "OMIM:617425": "Immunoskeletal dysplasia with neurodevelopmental abnormalities", "OMIM:617802": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "OMIM:617241": "Lung disease, immunodeficiency, and chromosome breakage syndrome", "OMIM:115196": "Cardiomyopathy, familial hypertrophic, 3", "OMIM:609887": "Glaucoma 1, open angle, G", "OMIM:205700": "Anemia, autoimmune hemolytic", "OMIM:617412": "Brachycephaly, trichomegaly, and developmental delay", "OMIM:105580": "Anal canal carcinomacloacogenic carcinoma, included", "OMIM:615561": "Complement factor B deficiency", "OMIM:618108": "Immunodeficiency 57", "OMIM:617323": "Intellectual developmental disorder, autosomal recessive 59", "OMIM:167030": "Nephrolithiasis, calcium oxalate", "OMIM:158800": "Muscular dystrophy, Barnes type", "OMIM:610420": "Preauricular tag, isolated, autosomal dominant, 1", "OMIM:301015": "Hemolytic anemia, congenital, X-linked", "OMIM:617219": "Chromosome 19q13.11 deletion syndrome, proximal", "OMIM:617300": "Lymphatic malformation 7", "OMIM:107700": "Appendicitis, proneness to", "OMIM:191950": "Urticaria, familial localized heat", "OMIM:115430": "Carpal tunnel syndrome", "OMIM:612278": "Inflammatory bowel disease 19", "CCRD:97": "进行性家族性肝内胆汁淤积症/Progressive familial intrahepatic cholestasis; PFIC/Progressive familial intrahepatic cholestasis", "ORPHA:172": "进行性家族性肝内胆汁淤积症/Progressive familial intrahepatic cholestasis; PFIC/Progressive familial intrahepatic cholestasis", "OMIM:219300": "Cutis verticis gyrata and mental deficiency", "OMIM:613606": "Forsythe-Wakeling syndrome", "OMIM:611572": "Otosclerosis 7", "OMIM:605572": "Abdominal obesity-metabolic syndrome quantitative trait locus 2", "OMIM:618374": "Epileptic encephalopathy, early infantile, 72", "OMIM:618357": "Epilepsy, idiopathic generalized, susceptibility to, 15", "OMIM:610797": "Epiphyseal dysplasia, Baumann type", "OMIM:600670": "Varicella, severe recurrent", "OMIM:618052": "Cardiomyopathy, familial hypertrophic 27", "OMIM:618397": "Combined oxidative phosphorylation deficiency 39", "OMIM:618005": "Congenital disorder of glycosylation with defective fucosylation 1", "OMIM:613544": "Chromosome 6q11-q14 deletion syndrome", "OMIM:617985": "Microcephaly 23, primary, autosomal recessive", "OMIM:617709": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures", "OMIM:300337": "Hypomelanosis of Ito", "OMIM:168820": "Paraoxonase 1", "OMIM:155140": "Meckel diverticulum", "OMIM:145290": "HYPERREFLEXIA", "OMIM:108725": "Atherosclerosis susceptibility", "OMIM:160750": "MYOSITIS", "OMIM:617126": "Alazami-Yuan syndrome", "OMIM:125050": "Deafness with anhidrotic ectodermal dysplasia", "OMIM:617681": "Blepharocheilodontic syndrome 2", "OMIM:601708": "Superior transverse scapular ligament, calcification of, familial", "OMIM:142000": "Hemoglobin-Delta locus", "OMIM:257150": "Neutrophil actin dysfunction", "ORPHA:1727": "22q11.2 duplication syndrome/Chromosome 22q11.2 duplication syndrome", "OMIM:608363": "22q11.2 duplication syndrome/Chromosome 22q11.2 duplication syndrome", "OMIM:226150": "ENTEROCOLITIS", "OMIM:252270": "Myelodysplasia and leukemia syndrome with monosomy 7", "OMIM:130300": "Electroencephalographic peculiarity: fronto-precentral beta wave groups", "OMIM:618378": "Combined oxidative phosphorylation deficiency 38", "OMIM:617333": "Intellectual developmental disorder with dysmorphic facies and ptosis", "OMIM:142700": "Developmental dysplasia of the hip 1", "OMIM:185650": "Symphalangism, c. s. Lewis type", "OMIM:212100": "Cardioauditory syndrome of sanchez cascos", "OMIM:618383": "Intellectual developmental disorder, autosomal recessive 69", "OMIM:144300": "Hyperlipoproteinemia, type II, and deafness", "OMIM:618090": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "OMIM:613353": "Mononeuropathy of the median nerve, mild", "OMIM:262875": "Platelet prostacyclin receptor defect", "OMIM:600808": "Enuresis, nocturnal, 2", "OMIM:613690": "Cardiomyopathy, familial hypertrophic, 7", "OMIM:617450": "Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "OMIM:617561": "Cohen-Gibson syndrome", "OMIM:618060": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia", "OMIM:114900": "Carcinoid tumors, intestinal", "OMIM:618360": "Brain small vessel disease 3", "OMIM:613938": "Parasomnia, Sleepwalking type", "ORPHA:1738": "Trisomy 4p", "OMIM:106900": "ANONYCHIA-ECTRODACTYLY", "OMIM:610208": "Migraine with or without aura, susceptibility to, 10", "OMIM:618564": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "OMIM:177100": "Pruritus, hereditary localized", "OMIM:617915": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome", "OMIM:167900": "Papillomatosis, familial cutaneous", "OMIM:614402": "Microphthalmia, syndromic 11", "OMIM:223100": "Lactase persistence/nonpersistence", "OMIM:609021": "Peripheral cone dystrophy", "OMIM:618506": "Coffin-Siris syndrome 10", "ORPHA:101082": "Charcot-Marie-Tooth disease type 1B/Charcot-Marie-Tooth disease, type 1B", "OMIM:118200": "Charcot-Marie-Tooth disease type 1B/Charcot-Marie-Tooth disease, type 1B", "ORPHA:174": "Metaphyseal chondrodysplasia, Schmid type/Metaphyseal chondrodysplasia, Schmid type", "OMIM:156500": "Metaphyseal chondrodysplasia, Schmid type/Metaphyseal chondrodysplasia, Schmid type", "OMIM:604519": "Inflammatory bowel disease 3", "OMIM:617925": "Short-Rib thoracic dysplasia 20 with polydactyly", "OMIM:100820": "Achoo syndrome", "OMIM:617713": "Combined oxidative phosphorylation deficiency 33", "OMIM:190500": "Triphalangeal thumb with double phalanges", "OMIM:616814": "Preimplantation embryonic lethality 1", "OMIM:191390": "Inflammatory bowel disease 11", "OMIM:109130": "Axial osteomalacia", "OMIM:188800": "Tibial torsion, bilateral medial", "ORPHA:1742": "Trisomy 5p", "OMIM:614629": "Keratoconus 7", "OMIM:605321": "Frontoocular syndrome", "OMIM:311400": "Paine syndrome", "OMIM:618213": "Inflammatory bowel disease, immunodeficiency, and encephalopathy", "OMIM:271225": "Spinal muscular atrophy, type I, with congenital bone fractures", "OMIM:244100": "Jumping frenchman of maine", "OMIM:603221": "Myopia-3", "OMIM:222350": "DIAMINOPENTANURIA", "OMIM:617885": "Body mass index quantitative trait locus 19", "ORPHA:1745": "Distal trisomy 6p", "OMIM:618295": "Intellectual developmental disorder, autosomal recessive 67", "OMIM:612198": "Diastasis recti and weakness of the linea alba", "OMIM:613969": "Myopia 19, autosomal dominant", "OMIM:616342": "Lissencephaly 7 with cerebellar hypoplasia", "OMIM:114065": "Calcific aortic disease with immunologic abnormalities, familial", "OMIM:614450": "Hypothyroidism, congenital, nongoitrous, 6", "OMIM:618342": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "OMIM:617268": "Neurodevelopmental disorder with hypotonia, seizures, and absent language", "OMIM:186850": "Tarsal fusion", "OMIM:193250": "Volvulus of midgut", "OMIM:165670": "Ossified ear cartilages", "OMIM:204850": "Amyloidosis of gingiva and conjunctiva, with mental retardation", "OMIM:400047": "DEAFNESS, Y-LINKED 2", "OMIM:183400": "Split lower lip", "OMIM:115000": "Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "OMIM:147350": "Incisors, rotation of upper central", "OMIM:618278": "Fibrosis, neurodegeneration, and cerebral angiomatosis", "OMIM:617248": "3-methylglutaconic aciduria, type VIII", "OMIM:617765": "Immunodeficiency, common variable, 14", "OMIM:185100": "Strabismus, susceptibility to", "OMIM:125852": "Diabetes mellitus, insulin-dependent, 2", "OMIM:147610": "Iris pigment layer, cleavage of", "OMIM:602197": "Cerebellar degeneration-related autoantigen 3", "OMIM:219070": "Curved nail of fourth toe", "ORPHA:175": "Cartilage-hair hypoplasia/Cartilage-hair hypoplasia", "OMIM:250250": "Cartilage-hair hypoplasia/Cartilage-hair hypoplasia", "OMIM:613857": "Orofacial cleft 13", "OMIM:104400": "Amelia and terminal transverse hemimelia", "OMIM:311360": "Premature ovarian failure 1", "OMIM:601700": "Sebaceous gland hyperplasia, familial presenile", "OMIM:600850": "Schizophrenia 4", "OMIM:616939": "Chorea, childhood-onset, with psychomotor retardation", "ORPHA:1752": "Trisomy 8q", "OMIM:300496": "Autism susceptibility, X-linked 3", "OMIM:303900": "Colorblindness, partial, protan series", "OMIM:260570": "Immunodeficiency 108 with autoinflammation", "OMIM:515000": "Chloramphenicol toxicity", "OMIM:202550": "Aganglionosis, total intestinal", "OMIM:237550": "Hyperbilirubinemia, conjugated, type III", "OMIM:301014": "Osteogenesis imperfecta, type XIX", "OMIM:614390": "Pregnancy loss, recurrent, susceptibility to, 2", "OMIM:613874": "Cardiomyopathy, familial hypertrophic, 18", "ORPHA:1756": "Caudal duplication/Caudal duplication anomaly", "OMIM:607864": "Caudal duplication/Caudal duplication anomaly", "OMIM:614055": "Acetyl-Coa acetyltransferase-2 deficiency", "OMIM:109200": "Alopecia, androgenetic, 1", "OMIM:165720": "Osteoarthritis susceptibility 1", "OMIM:617721": "Neuronopathy, distal hereditary motor, type IX", "OMIM:616779": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2", "OMIM:612356": "Heparin cofactor II deficiency", "OMIM:616924": "Charcot-Marie-Tooth disease, axonal, type 2CC", "OMIM:168200": "Paramolar tubercle of bolk", "ORPHA:1757": "Fibular dimelia-diplopodia syndrome", "OMIM:226300": "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy", "OMIM:300604": "Premature ovarian failure 2B", "OMIM:242890": "Immunoglobulin D level in plasma, low", "OMIM:300982": "Mental retardation, X-linked 103", "OMIM:613933": "Acetyl-CoA carboxylase deficiency", "OMIM:142400": "Hernia, hiatus", "OMIM:618492": "Neurodevelopmental disorder with microcephaly and structural brain anomalies", "OMIM:617976": "Epileptic encephalopathy, early infantile, 63", "ORPHA:1759": "Thoraco-abdominal enteric duplication", "OMIM:618314": "Hypomagnesemia, seizures, and mental retardation 2", "OMIM:618494": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies", "OMIM:266810": "Renal and mullerian duct hypoplasia", "OMIM:617516": "Stankiewicz-Isidor syndrome", "OMIM:618426": "Encephalopathy, acute, infection-induced, susceptibility to, 9", "OMIM:134430": "Factor VII and factor VIII, combined deficiency of", "OMIM:134510": "Factor VIII and factor IX, combined deficiency of", "OMIM:176250": "Posterior column ataxia", "OMIM:617164": "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay", "OMIM:601098": "Charcot-Marie-Tooth disease, demyelinating, type 1C", "OMIM:273150": "Testes, rudimentary", "OMIM:601809": "Spondylospinal thoracic dysostosis", "OMIM:102100": "Acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "OMIM:611808": "Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus", "OMIM:618014": "Premature ovarian failure 14", "OMIM:617822": "Alkuraya-Kucinskas syndrome", "OMIM:611694": "Dystonia with cerebellar atrophy", "OMIM:138070": "GLUCOGLYCINURIA", "ORPHA:1762": "Proximal Xq28 duplication syndrome", "OMIM:189150": "Toe, rotated fifth", "OMIM:618367": "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "OMIM:617214": "Spermatogenic failure 17", "OMIM:133600": "Exostoses of heel", "OMIM:601356": "Lethal short-limb skeletal dysplasia, al Gazali type", "OMIM:603855": "Cystic fibrosis, modifier of, 1", "OMIM:300986": "Mental retardation, X-linked, syndromic, Bain type", "OMIM:189600": "TORTICOLLIS", "ORPHA:1764": "Familial dysautonomia/Neuropathy, hereditary sensory and autonomic, type III", "OMIM:223900": "Familial dysautonomia/Neuropathy, hereditary sensory and autonomic, type III", "OMIM:145500": "Hypertension, essential", "OMIM:617875": "Polycystic liver disease 4 with or without kidney cysts", "OMIM:617020": "Epileptic encephalopathy, early infantile, 38", "OMIM:608751": "Cardiomyopathy, familial hypertrophic, 8", "OMIM:617633": "Spinocerebellar ataxia, autosomal recessive 26", "OMIM:601477": "Ribbing disease", "OMIM:106300": "Spondyloarthropathy, susceptibility to, 1", "OMIM:142309": "Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain", "OMIM:314550": "Vesicoureteral reflux, X-linked", "OMIM:113200": "Brachydactyly, type D", "ORPHA:1765": "Dyschondrosteosis-nephritis syndrome", "OMIM:239900": "Hypertrophic neuropathy and cataract", "OMIM:613887": "Cataract, autosomal recessive congenital 4", "OMIM:247150": "Lip prints", "OMIM:618341": "Spermatogenic failure 35", "OMIM:187050": "Teeth present at birth", "OMIM:126850": "Duodenal ulcer, hyperpepsinogenemic I", "OMIM:129150": "Echo virus 11 sensitivity", "OMIM:115400": "Carpal displacement", "OMIM:600510": "Glaucoma-Related pigment dispersion syndrome", "ORPHA:1766": "Dysequilibrium syndrome/Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1", "OMIM:224050": "Dysequilibrium syndrome/Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1", "OMIM:617642": "Polydactyly, postaxial, type A7", "OMIM:618420": "Spermatogenic failure 36", "OMIM:131430": "EOSINOPHILOPENIA", "OMIM:145200": "Hyperpigmentation of fuldauer and kuijpers", "OMIM:601941": "Diabetes mellitus, insulin-dependent, 6", "OMIM:158100": "Monophalangy of great toe", "OMIM:607501": "Migraine without aura, susceptibility to, 4", "OMIM:146700": "Ichthyosis vulgaris", "OMIM:617258": "Myopathy, myofibrillar, 8", "OMIM:607373": "Autism, susceptibility to, 8", "OMIM:618457": "Deafness, autosomal recessive 115", "ORPHA:177": "Rhizomelic chondrodysplasia punctata", "OMIM:617996": "Oocyte maturation defect 5", "OMIM:617641": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", "OMIM:614389": "Pregnancy loss, recurrent, susceptibility to, 1", "OMIM:162700": "Neutropenia, chronic familial", "OMIM:187501": "Tetralogy of Fallot and glaucoma", "OMIM:192900": "Vertebral hypoplasia with lumbar kyphosis", "OMIM:245450": "LACTIC ACIDURIA DUE TO D-LACTIC ACID", "OMIM:618317": "Basal ganglia calcification, idiopathic, 7, autosomal recessive", "ORPHA:1770": "XY type gonadal dysgenesis-associated anomalies syndrome", "OMIM:237000": "HYDROXYPROLINEMIA", "OMIM:618394": "Immunodeficiency 60", "OMIM:617062": "Okur-Chung neurodevelopmental syndrome", "OMIM:161470": "Nasal alar collapse, bilateral", "OMIM:125530": "Dermal ridges, nelson syndrome", "OMIM:161500": "Nasal groove, familial transverse", "OMIM:254150": "Musk, inability to smell", "OMIM:608631": "Asperger syndrome, susceptibility to, 2", "OMIM:167000": "Ovarian cancer", "OMIM:165000": "Ophthalmoplegia, familial static", "OMIM:119915": "Cluster headache, familial", "OMIM:614262": "Arthrogryposis, perthes disease, and upward gaze palsy", "OMIM:613793": "Blood group, cromer system", "OMIM:159600": "Myoclonic epilepsy, Hartung type", "OMIM:183850": "Spondyloepiphyseal dysplasia with punctate corneal dystrophy", "OMIM:164150": "Nystagmus, hereditary vertical", "OMIM:124100": "Danubian endemic familial nephropathy", "OMIM:218050": "Cramps, familial adolescent", "OMIM:617873": "Combined oxidative phosphorylation deficiency 35", "OMIM:180350": "Rheumatoid nodulosis", "OMIM:617982": "Ververi-Brady syndrome", "OMIM:241800": "Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included", "OMIM:605019": "Hypobetalipoproteinemia, familial, 2", "OMIM:616811": "Combined oxidative phosphorylation deficiency 29", "OMIM:249230": "Megaepiphyseal dwarfism", "OMIM:178650": "Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities", "OMIM:189200": "Toes, relative length of first and second", "OMIM:607678": "Charcot-Marie-Tooth disease, demyelinating, type 1D", "ORPHA:1772": "45,X/46,XY mixed gonadal dysgenesis", "OMIM:617874": "Polycystic liver disease 3 with or without kidney cysts", "OMIM:160570": "Myopathy with storage of glycoproteins and glycosaminoglycans", "OMIM:145750": "Hypertriglyceridemia, familial", "OMIM:266600": "Inflammatory bowel disease 1, Crohn disease", "OMIM:617638": "Immunodeficiency 11B with atopic dermatitis", "OMIM:155500": "Macrodactyly, somatic", "ORPHA:1775": "Dyskeratosis congenita/Dyskeratosis congenita, autosomal dominant, 1", "OMIM:127550": "Dyskeratosis congenita/Dyskeratosis congenita, autosomal dominant, 1", "OMIM:107320": "Antiphospholipid syndrome, familial", "OMIM:146350": "Hypophosphatemic bone disease", "OMIM:618103": "Intellectual developmental disorder, autosomal recessive 64", "OMIM:617691": "Spinocerebellar ataxia 44", "OMIM:618205": "Snijders Blok-Campeau syndrome", "OMIM:167950": "Papillomatosis, florid, of nipple", "OMIM:183050": "Spinocerebellar ataxia with rigidity and peripheral neuropathy", "OMIM:609037": "Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature", "OMIM:177050": "Protrusio acetabuli", "ORPHA:1777": "Temtamy syndrome/Temtamy syndrome", "OMIM:218340": "Temtamy syndrome/Temtamy syndrome", "OMIM:618155": "Ophthalmoplegia, external, with rib and vertebral anomalies", "OMIM:180360": "RHINY", "OMIM:617629": "Schizophrenia 19", "OMIM:618480": "Neurodevelopmental disorder with seizures and speech and walking impairment", "OMIM:212800": "Cephalin lipidosis", "OMIM:617912": "Congenital heart defects, multiple types, 5", "OMIM:600807": "Asthma, susceptibility to", "OMIM:616487": "Epidermolysis bullosa simplex with nail dystrophy", "ORPHA:1778": "Facial dysmorphism-shawl scrotum-joint laxity syndrome", "OMIM:606579": "Vitiligo-Associated multiple autoimmune disease susceptibility 1", "OMIM:615558": "Hypobetalipoproteinemia, familial, 1", "OMIM:606840": "Faciomandibular myoclonus, nocturnal", "OMIM:178000": "Pterygium of conjunctiva and cornea", "OMIM:173000": "Pilonidal sinus", "OMIM:262800": "Plasma clot retraction factor, deficiency of", "OMIM:617961": "Spermatogenic failure 26", "OMIM:187395": "Teratocarcinoma-Derived growth factor 1", "OMIM:109350": "Gastroesophageal reflux", "ORPHA:1779": "Dysmorphism-cleft palate-loose skin syndrome", "OMIM:137900": "Globulin anomaly involving beta (2a)-globulin", "OMIM:615538": "Chromosome 22q13 duplication syndrome", "OMIM:601616": "Iris pigment epithelium anomalies", "OMIM:616947": "Premature ovarian failure 12", "OMIM:615812": "Abdominal obesity-metabolic syndrome 3", "OMIM:190800": "TRISTICHIASIS", "OMIM:149300": "Koilonychia, hereditary", "OMIM:300511": "Premature ovarian failure 2A", "OMIM:258700": "Opticocochleodentate degeneration", "OMIM:610947": "Coronary artery disease, autosomal dominant 2", "OMIM:617907": "Erythrocytosis, familial, 5", "OMIM:618443": "Neurodevelopmental disorder with or without variable brain abnormalities", "OMIM:139650": "Hairy palms and soles", "OMIM:617820": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive", "OMIM:134400": "Factor V excess with spontaneous thrombosis", "OMIM:606842": "Cardioneuromyopathy with hyaline masses and nemaline rods", "OMIM:617574": "Ichthyosis, congenital, autosomal recessive 13", "OMIM:169400": "Pelger-Huet anomaly", "OMIM:151380": "Leukemia, acute monocytic", "OMIM:617238": "Myopia 25, autosomal dominant", "OMIM:301030": "Van Esch-O'Driscoll syndrome", "OMIM:155200": "Mediosternal depigmentation line", "OMIM:616188": "Retinal dystrophy and obesity", "OMIM:190410": "Trigger thumb", "OMIM:271200": "Spinal muscular atrophy, Ryukyuan type", "OMIM:212060": "Carbimazole sensitivity", "OMIM:205000": "Amyotonia congenita", "OMIM:102900": "Adenosine triphosphate, elevated, of erythrocytes", "OMIM:300923": "Mental retardation, X-linked 100", "OMIM:602475": "Ossification of the posterior longitudinal ligament of spine", "OMIM:618387": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3", "OMIM:609255": "Febrile seizures, familial, 5", "OMIM:170600": "Normokalemic periodic paralysis", "OMIM:600093": "Spondyloepiphyseal dysplasia tarda with characteristic facies", "OMIM:618087": "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits", "OMIM:144600": "Hyperlipoproteinemia, type IV", "OMIM:144100": "Hyperhidrosis, gustatory", "OMIM:617913": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "OMIM:618015": "Protoporphyria, erythropoietic, 2", "OMIM:308960": "Leukemia, acute, ?x-linked", "OMIM:171000": "Peyronie disease", "OMIM:193003": "Nystagmus 4, congenital, autosomal dominant", "OMIM:617404": "Muscular dystrophy, congenital, with cataracts and intellectual disability", "OMIM:608404": "Platelet glycoprotein IV deficiency", "OMIM:257500": "Obesity-Hypoventilation syndrome", "OMIM:602124": "Dystonia 7, torsion", "OMIM:618470": "Intellectual developmental disorder with severe speech and ambulation defects", "OMIM:167600": "Palmaris longus muscle, absence of", "OMIM:617520": "Microcephaly 18, primary, autosomal dominant", "OMIM:163850": "Noduli cutanei, multiple, with urinary tract abnormalities", "OMIM:192200": "Varicose veins", "OMIM:618003": "Deafness, autosomal recessive 57", "OMIM:156000": "Meniere disease", "OMIM:617435": "Lopes-Maciel-Rodan syndrome", "OMIM:614684": "Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes", "OMIM:166910": "Ovalocytosis, hereditary hemolytic, with defective erythropoiesis", "OMIM:158250": "NONDISJUNCTION", "OMIM:215400": "Chordoma, susceptibility to", "OMIM:613913": "Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis", "OMIM:617911": "Diamond-Blackfan anemia-like", "OMIM:615432": "Specific language impairment 5", "OMIM:610805": "Congenital anomalies of kidney and urinary tract, susceptibility to", "OMIM:166400": "Osteomas of mandible", "OMIM:618089": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities", "OMIM:617596": "Maleylacetoacetate isomerase deficiency", "OMIM:615668": "Chromosome 5q12 deletion syndrome", "ORPHA:1780": "Thakker-Donnai syndrome", "OMIM:172900": "Pigmented purpuric eruption", "OMIM:176430": "Premature chromatid separation trait", "OMIM:149100": "Knuckle pads", "OMIM:226950": "Epiphyseal dysplasia of femoral head, myopia, and deafness", "OMIM:618430": "Developmental delay with variable intellectual impairment and behavioral abnormalities", "OMIM:617671": "Helix syndrome", "OMIM:182260": "Slipped femoral capital epiphyses", "OMIM:191500": "Undritz anomaly", "OMIM:147050": "Ige responsiveness, atopic", "OMIM:272620": "Tardive dyskinesia", "OMIM:618148": "Extraoral halitosis due to MTO deficiency", "OMIM:301700": "ANOSMIA", "OMIM:618352": "Central centrifugal cicatricial alopecia", "OMIM:269630": "Second metatarsal-metacarpal syndrome", "OMIM:301025": "Paganini-Miozzo syndrome", "ORPHA:178029": "Central diabetes insipidus", "OMIM:217500": "Corneal dystrophy, band-shaped", "OMIM:617613": "Multiple mitochondrial dysfunctions syndrome 5", "OMIM:179400": "Radius, aplasia of, with cleft lip/palate", "OMIM:203760": "Alpha-2-deficient collagen disease", "OMIM:151000": "Lentiginosis, centrofacial neurodysraphic", "OMIM:212750": "Celiac disease, susceptibility to, 1", "OMIM:182800": "Spastic paraplegia with associated extrapyramidal signs", "OMIM:618535": "Ectodermal dysplasia 15, Hypohidrotic/hair type", "OMIM:618477": "URIDINE-CYTIDINEURIA", "OMIM:618286": "Macrocephaly, acquired, with impaired intellectual development", "OMIM:176800": "Pronation-Supination of the forearm, impairment of", "OMIM:617665": "Epileptic encephalopathy, early infantile, 56", "OMIM:278800": "De Sanctis-Cacchione syndrome", "OMIM:227000": "Erythema of acral regions", "OMIM:613736": "Acne inversa, familial, 2, with or without dowling-degos disease", "OMIM:617585": "Immunodeficiency 53", "OMIM:258400": "Ophthalmoplegia totalis with ptosis and miosis", "OMIM:312500": "Reticuloendotheliosis, X-linked", "OMIM:617988": "Jaberi-Elahi syndrome", "OMIM:609253": "Febrile seizures, familial, 6", "OMIM:250500": "Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia", "OMIM:300280": "Uruguay faciocardiomusculoskeletal syndrome", "OMIM:165510": "Optic atrophy with negative electroretinograms", "OMIM:617866": "Short-Rib thoracic dysplasia 18 with polydactyly", "OMIM:137560": "Giant platelet syndrome with thrombocytopenia", "ORPHA:178145": "Moderate multiminicore disease with hand involvement", "OMIM:184200": "SPONDYLOLISTHESIS", "OMIM:600343": "Parotid salivary glands, polycystic dysgenetic disease of", "OMIM:112700": "Brachydactyly, type A3", "OMIM:617523": "Neurodevelopmental disorder with midbrain and hindbrain malformations", "OMIM:240000": "Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase", "OMIM:617773": "Intellectual developmental disorder, autosomal recessive 61", "OMIM:142330": "Hepatic adenomas, familial", "OMIM:607487": "Cardiomyopathy, familial hypertrophic, 25", "OMIM:147710": "INTUSSUSCEPTION", "ORPHA:178148": "Antenatal multiminicore disease with arthrogryposis multiplex congenita", "OMIM:613757": "Macular degeneration, age-related, 6", "OMIM:230300": "GALACTORRHEA", "OMIM:612098": "Cardiomyopathy, familial hypertrophic, 11", "OMIM:617710": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "OMIM:123540": "Cryofibrinogenemia, familial primary", "OMIM:608367": "Myopia 17", "ORPHA:1782": "Dysosteosclerosis/DYSOSTEOSCLEROSIS", "OMIM:224300": "Dysosteosclerosis/DYSOSTEOSCLEROSIS", "OMIM:314380": "Unique green phenomenon", "OMIM:269650": "Secretory component deficiency", "OMIM:609939": "Systemic lupus erythematosus, susceptibility to, 6", "OMIM:107900": "Arms, malformation of", "OMIM:616255": "Short stature with nonspecific skeletal abnormalities", "OMIM:271110": "Spinal muscular atrophy with microcephaly and mental subnormality", "OMIM:251800": "Microtia with meatal atresia and conductive deafness", "OMIM:618364": "Myoclonus, familial, 2", "OMIM:617275": "Tooth agenesis, selective, 9", "OMIM:308230": "Immunodeficiency, X-linked, with hyper-IgM", "ORPHA:178303": "8q22.1 microdeletion syndrome/Nablus mask-like facial syndrome", "OMIM:608156": "8q22.1 microdeletion syndrome/Nablus mask-like facial syndrome", "OMIM:114700": "Carabelli anomaly of maxillary molar teeth", "OMIM:617320": "Ichthyosis, congenital, autosomal recessive 12", "OMIM:606851": "Cree mental retardation syndrome", "OMIM:603529": "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin", "OMIM:617222": "Sudden cardiac failure, infantile", "OMIM:618528": "Mitochondrial DNA depletion syndrome 16 (hepatic type)", "OMIM:601942": "Diabetes mellitus, insulin-dependent, 10", "OMIM:618006": "Leukodystrophy, hypomyelinating, 17", "OMIM:615537": "Reticulate acropigmentation of Kitamura", "OMIM:170650": "Periodontitis, aggressive, 1", "OMIM:120050": "Coxsackievirus B3 susceptibility", "OMIM:222100": "Diabetes mellitus, insulin-dependent-1", "OMIM:612096": "Otosclerosis 8", "OMIM:167870": "Panic disorder 1", "OMIM:190430": "Triglyceride storage disease, type II", "OMIM:618107": "Osteopetrosis, autosomal dominant 3", "OMIM:617926": "Orofaciodigital syndrome XVII", "OMIM:233800": "Grouped pigmentation of the macula", "OMIM:617133": "Spinocerebellar ataxia, autosomal recessive 24", "OMIM:618436": "Arthrogryposis, distal, type 2B3", "OMIM:618266": "Pontocerebellar hypoplasia, type 12", "OMIM:617967": "Hydrocephalus, congenital, 3, with brain anomalies", "OMIM:301010": "Myopia 26, X-linked, female-limited", "OMIM:617584": "Spinocerebellar ataxia, autosomal recessive 25", "OMIM:617732": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction", "OMIM:109100": "Autoimmune disease", "OMIM:160700": "Myopia 2, autosomal dominant", "OMIM:612447": "Skeletal defects, genital hypoplasia, and mental retardation", "OMIM:210000": "Behr syndrome", "OMIM:264060": "Prepapillary vascular loops", "OMIM:173650": "Kindler syndrome", "OMIM:618050": "Mental retardation, autosomal dominant 57", "OMIM:608907": "Alzheimer disease 9, susceptibility to", "OMIM:618144": "Usher syndrome, type IV", "OMIM:188560": "Thyroid hormone plasma membrane transport defect", "OMIM:553000": "Oncocytoma", "OMIM:617591": "Proteasome-Associated autoinflammatory syndrome 3", "OMIM:617664": "Combined oxidative phosphorylation deficiency 32", "OMIM:617668": "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "OMIM:617770": "Spinocerebellar ataxia 46", "ORPHA:178333": "Åland Islands eye disease/Aland island eye disease", "OMIM:300600": "Åland Islands eye disease/Aland island eye disease", "OMIM:610441": "Testicular microlithiasis", "OMIM:247450": "Lymphoblastic transformation, intrinsic defect in", "OMIM:617804": "Neurodevelopmental disorder with severe motor impairment and absent language", "OMIM:618425": "Neurodevelopmental disorder with impaired speech and hyperkinetic movements", "OMIM:617394": "Sclerosing cholangitis, neonatal", "OMIM:182200": "Sella turcica, bridged", "OMIM:148100": "KELOIDS", "OMIM:275250": "Tongue, pigmented fungiform papillae of", "OMIM:200300": "Acetophenetidin sensitivity", "OMIM:608474": "Myopia 5", "OMIM:263550": "Polymyoclonus, infantile", "OMIM:127200": "Dwarfism with stiff joints and ocular abnormalities", "OMIM:618147": "Intellectual developmental disorder with hypertelorism and distinctive facies", "OMIM:618354": "Neurodevelopmental disorder and language delay with or without structural brain abnormalities", "OMIM:616098": "Immunodeficiency 37", "OMIM:241100": "Hypogonadism, malehypogonadism and testicular atrophy, included", "OMIM:618504": "Intellectual developmental disorder, autosomal recessive 71", "OMIM:617564": "Meier-Gorlin syndrome 8", "OMIM:145650": "Thyroid hormone resistance, selective pituitary", "OMIM:617403": "Cutis laxa, autosomal recessive, type IID", "OMIM:617540": "Pituitary adenoma 5, multiple types", "OMIM:617718": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia", "OMIM:613737": "Acne inversa, familial, 3", "OMIM:166760": "Otitis media, susceptibility to", "OMIM:300228": "Testicular germ cell tumor 1", "OMIM:266250": "Radiculoneuropathy, fatal neonatal", "OMIM:145350": "Hypotaurinemic retinal degeneration and cardiomyopathy", "OMIM:139300": "Aromatase excess syndrome", "OMIM:102000": "Acroleukopathy, symmetric", "OMIM:617930": "Chromosome 1p35 deletion syndrome", "OMIM:607674": "Cataract, congenital, with mental impairment and dentate gyrus atrophy", "OMIM:603383": "Glaucoma 1, open angle, F", "OMIM:615723": "Premature ovarian failure 8", "OMIM:251945": "Mitochondrial myopathy with A defect in mitochondrial-protein transport", "OMIM:616171": "Microcephaly and chorioretinopathy, autosomal recessive, 2", "OMIM:154300": "Malocclusion due to protuberant upper front teeth", "OMIM:149500": "Kyrle disease", "OMIM:267400": "Renal, genital, and middle ear anomalies", "OMIM:602200": "Ventriculomegaly with defects of the radius and kidney", "OMIM:145680": "Dystransthyretinemic euthyroidal hyperthyroxinemia", "OMIM:141200": "Hematuria, benign familial", "OMIM:605258": "Immunodeficiency with hyper-igm, type 2", "OMIM:610125": "Microphthalmia, syndromic 5", "OMIM:124700": "Deafness, mid-tone neural", "OMIM:193200": "Vitiligo-associated multiple autoimmune disease susceptibility 6", "OMIM:212093": "Cardiac valvular defect, developmental", "OMIM:601367": "Ischemic stroke, susceptibility to", "OMIM:300211": "Episodic muscle weakness, X-linked", "OMIM:264110": "Prolactin deficiency, isolated", "OMIM:608850": "Macular dystrophy, retinal, 3", "OMIM:192600": "Cardiomyopathy, familial hypertrophic 1", "OMIM:155000": "Maxillofacial dysostosis", "ORPHA:178377": "Osteosclerosis-developmental delay-craniosynostosis syndrome", "OMIM:605735": "Bleeding disorder, platelet-type, 12", "OMIM:126200": "Multiple sclerosis, susceptibility to", "OMIM:186600": "Syringomas, multiple", "OMIM:607499": "Bulimia nervosa, susceptibility to, 1", "OMIM:275190": "Tiglic acidemia", "OMIM:400043": "DEAFNESS, Y-LINKED 1", "ORPHA:178382": "Congenital vertical talus/Vertical talus, congenital", "OMIM:192950": "Congenital vertical talus/Vertical talus, congenital", "OMIM:300321": "Fg syndrome 2", "OMIM:308280": "Impacted teeth, multiple", "OMIM:618098": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5", "OMIM:261400": "Peroneus tertius muscle, absence of", "OMIM:606960": "Insulinoma tumor suppressor gene locus", "OMIM:254950": "Myopathy, granulovacuolar lobular, with electrical myotonia", "OMIM:618088": "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "OMIM:246470": "Leukemia, acute myelocytic, with polyposis coli and colon cancer", "OMIM:612301": "Osteopetrosis, autosomal recessive 7", "OMIM:617388": "Autoinflammation with arthritis and dyskeratosis", "OMIM:264080": "Progesterone resistance", "OMIM:601846": "Vacuolar neuromyopathy", "OMIM:166710": "OSTEOPOROSIS", "OMIM:612964": "Premature ovarian failure 7", "OMIM:170980": "Peroneal nerve, accessory deep", "OMIM:607498": "Migraine with or without aura, susceptibility to, 3", "OMIM:600082": "Prostatic hyperplasia, benign", "OMIM:607523": "Nail disorder, nonsyndromic congenital, 8", "OMIM:615420": "Myopia 22, autosomal dominant", "OMIM:300082": "Cognitive function 1, social", "OMIM:615032": "Intellectual developmental disorder with autism and macrocephaly", "OMIM:125460": "Deoxyribose-5-Phosphate aldolase deficiency", "OMIM:183350": "SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS", "OMIM:254700": "Myeloproliferative disease, autosomal recessive", "OMIM:105300": "Amyotrophic dystonic paraplegia", "OMIM:309950": "Muscular dystrophy, hemizygous Lethal type", "OMIM:614954": "Congenital heart defects, multiple types, 3", "ORPHA:1784": "Acrofrontofacionasal dysostosis/Acrofrontofacionasal dysostosis 1", "OMIM:201180": "Acrofrontofacionasal dysostosis/Acrofrontofacionasal dysostosis 1", "OMIM:109800": "Bladder cancer", "OMIM:614167": "Myopia 21, autosomal dominant", "OMIM:176630": "Primary release disorder of platelets", "OMIM:129000": "Earring holes, natural", "OMIM:114450": "Cancer, familial, with in vitro radioresistance", "OMIM:618451": "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia", "OMIM:618438": "Spastic ataxia 9, autosomal recessive", "OMIM:173590": "Platelet signal processing defect", "OMIM:616118": "Macular degeneration, early-onset", "ORPHA:178400": "Distal myopathy with anterior tibial onset/Myopathy, distal, with anterior tibial onset", "OMIM:606768": "Distal myopathy with anterior tibial onset/Myopathy, distal, with anterior tibial onset", "OMIM:247800": "Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis", "OMIM:601682": "Glaucoma 1, primary open angle, C", "OMIM:614063": "N-acetylaspartate deficiency", "OMIM:211390": "Sabinas brittle hair syndrome", "OMIM:117900": "Cervical rib", "OMIM:104350": "Amastia, bilateral, with ureteral triplication and dysmorphism", "OMIM:161950": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1", "OMIM:165098": "Ophthalmoplegia, familial total, with iris transillumination", "OMIM:617082": "Congenital disorder of glycosylation, type IAA", "OMIM:300696": "Myopathy, X-linked, with postural muscle atrophy", "OMIM:237800": "Hyperbilirubinemia, shunt, primary", "OMIM:240400": "HYPOASCORBEMIA", "OMIM:617744": "Immunodeficiency, developmental delay, and hypohomocysteinemia", "OMIM:614175": "Meckel syndrome, type 10", "OMIM:218100": "Cranial nerves, congenital paresis of", "OMIM:241150": "Hypokalemic alkalosis, familial, with specific renal tubulopathy", "OMIM:614980": "Congenital heart defects, multiple types, 2", "ORPHA:178464": "Hereditary myopathy with early respiratory failure/Myopathy, myofibrillar, 9, with early respiratory failure", "OMIM:603689": "Hereditary myopathy with early respiratory failure/Myopathy, myofibrillar, 9, with early respiratory failure", "OMIM:608996": "Premature ovarian failure 3", "OMIM:226800": "Epilepsy, photogenic, with spastic diplegia and mental retardation", "OMIM:611548": "Premature ovarian failure 5", "OMIM:150900": "LENTIGINES", "OMIM:229230": "Fraser-Like syndrome", "OMIM:182255": "Skeletal dysplasia with delayed epiphyseal and carpal bone ossification", "OMIM:616736": "Tremor, hereditary essential, 5", "OMIM:300273": "Goiter, multinodular 2", "OMIM:138500": "Glycinuria with or without oxalate urolithiasis", "OMIM:210050": "Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", "OMIM:183840": "Spondyloarthropathy, susceptibility to, 2", "OMIM:610244": "Spastic paraplegia 33, autosomal dominant", "OMIM:265850": "PYGMY", "OMIM:212400": "Cataract and congenital ichthyosis", "OMIM:607578": "Breath-Holding spells", "OMIM:606843": "Immunodeficiency with hyper-igm, type 3", "ORPHA:178475": "Wound botulism", "OMIM:616278": "Bile acid synthesis defect, congenital, 5", "OMIM:614391": "Pregnancy loss, recurrent, susceptibility to, 3", "OMIM:128000": "DYSTELEPHALANGY", "OMIM:609008": "Marfanoid habitus with situs inversus", "OMIM:600631": "Enuresis, nocturnal, 1", "OMIM:114650": "Car factor deficiency", "OMIM:610965": "XFE progeroid syndrome", "ORPHA:178478": "Infant botulism", "OMIM:614628": "Keratoconus 8", "OMIM:112270": "Bone pain, periodic", "OMIM:122750": "Coxa vara", "OMIM:602089": "Hemangioma, capillary infantile", "OMIM:617871": "Retinitis pigmentosa 81", "OMIM:616946": "Premature ovarian failure 11", "OMIM:614306": "Cognitive impairment with or without cerebellar ataxia", "ORPHA:178481": "Intestinal botulism", "OMIM:140900": "Hemangiomas of small intestine", "OMIM:268650": "Rudiger syndrome", "OMIM:249660": "Mesangial sclerosis, diffuse renal, with ocular abnormalities", "OMIM:617601": "Intellectual developmental disorder, autosomal dominant 46", "OMIM:618351": "Microcephaly 25, primary, autosomal recessive", "OMIM:608995": "Dyslexia, susceptibility to, 8", "OMIM:219550": "Cysteine peptiduria", "OMIM:300830": "Autism, susceptibility to, X-linked 4", "ORPHA:178487": "Adult intestinal botulism", "OMIM:618343": "Polymicrogyria with or without vascular-type EDS", "OMIM:253600": "Muscular dystrophy, limb-girdle, type 2A", "OMIM:206400": "Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism", "OMIM:618223": "Vertebral anomalies and variable endocrine and T-cell dysfunction", "OMIM:232900": "Glycoprotein storage disease", "OMIM:615589": "Otosclerosis 10", "OMIM:616710": "Parkinson disease 22, autosomal dominant", "OMIM:618165": "Bone marrow failure syndrome 5", "OMIM:612229": "Colorectal cancer, susceptibility to, 3", "OMIM:603956": "Cervical cancer", "OMIM:104110": "Alopecia, familial focal", "OMIM:604352": "Febrile seizures, familial, 4", "OMIM:613387": "Fatty liver disease, nonalcoholic, susceptibility to, 2", "OMIM:614163": "Delayed sleep phase disorder, susceptibility to", "OMIM:308600": "Jaundice, familial obstructive, of infancy", "OMIM:618339": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "OMIM:224000": "Dysautonomia-Like disorder", "OMIM:613658": "Rajab interstitial lung disease with brain calcifications", "OMIM:612160": "Histiocytoma, angiomatoid fibrous, somatic", "OMIM:618495": "Immunodeficiency 63 with lymphoproliferation and autoimmunity", "OMIM:614372": "Mannose-Binding lectin deficiency", "OMIM:132000": "Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails", "OMIM:616843": "Lymphedema, hereditary, III", "OMIM:182000": "Keratosis, seborrheic, somatic", "OMIM:600084": "Macrocytosis, familial", "OMIM:184450": "Stuttering, familial persistent, 1", "OMIM:189230": "Toes, space between first and second", "ORPHA:178509": "Perry syndrome/Perry syndrome", "OMIM:168605": "Perry syndrome/Perry syndrome", "OMIM:616831": "Luscan-Lumish syndrome", "OMIM:133500": "Exchondrosis of pinna, posterior", "OMIM:134500": "Factor VIII deficiency", "OMIM:207300": "Antithrombin, familial hemorrhagic diathesis due to", "OMIM:139000": "Granulosis rubra nasi", "OMIM:228400": "Fever, familial lifelong persistent", "OMIM:249240": "Megalencephaly with dysmyelination", "OMIM:246400": "Letterer-Siwe disease", "OMIM:243050": "Indolylacroyl glycinuria with mental retardation", "OMIM:212070": "Carboxypeptidase N deficiency", "OMIM:617746": "Sweeney-Cox syndrome", "OMIM:267740": "Retinal degeneration and epilepsy", "OMIM:607565": "Spastic paraplegia, ataxia, and mental retardation", "OMIM:201750": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis", "OMIM:300589": "Nystagmus 5, congenital, X-linked", "OMIM:188100": "Thumb deformity", "OMIM:609289": "Syncope, familial vasovagal", "OMIM:134540": "Factor IX and factor XI, combined deficiency of", "OMIM:189000": "Toe, fifth, number of phalanges in", "OMIM:192000": "Uterine anomalies", "OMIM:300872": "Autism, susceptibility to, X-linked 6", "OMIM:164230": "Obsessive-Compulsive disorder 1", "OMIM:612520": "Diabetes mellitus, insulin-dependent, 20", "OMIM:205200": "Amyotrophic lateral sclerosis, juvenile, with dementia", "OMIM:146850": "Immune suppression", "OMIM:125480": "Major affective disorder 1", "OMIM:300622": "Tn polyagglutination syndrome", "OMIM:608184": "Immunodeficiency with hyper-IgM, type 4", "OMIM:310460": "Myopia 1, X-linked", "OMIM:191550": "Ureter, bifid or double", "OMIM:614674": "Periodic fever, menstrual cycle-dependent", "OMIM:618167": "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits", "OMIM:616051": "Microcephaly 13, primary, autosomal recessive", "OMIM:560000": "Renal tubulopathy, diabetes mellitus, and cerebellar ataxia", "OMIM:608345": "Nystagmus 3, congenital, autosomal dominant", "OMIM:129550": "Ectodermal dysplasia with adrenal cyst", "OMIM:614429": "Ventricular septal defect 1", "OMIM:176600": "Presenile dementia, Kraepelin type", "OMIM:250900": "Methionine malabsorption syndrome", "OMIM:173420": "Platelet disorder, undefined", "OMIM:617234": "Preimplantation embryonic lethality 2", "OMIM:152700": "Systemic lupus erythematosus", "OMIM:264140": "Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness", "OMIM:242870": "Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes", "OMIM:618013": "Deafness, autosomal recessive 109", "OMIM:215720": "Citrulline transport defect", "OMIM:179000": "Purpura simplex", "OMIM:609441": "Acromesomelic dysplasia, Demirhan type", "OMIM:152550": "Lumbar stenosis, familial", "OMIM:270350": "SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL", "OMIM:309200": "Major affective disorder 2", "OMIM:614826": "Nystagmus 7, congenital, autosomal dominant", "OMIM:212130": "Cardiomyopathy associated with myopathy and sudden death", "OMIM:156900": "Microphthalmia, isolated, with corectopia", "OMIM:612244": "Inflammatory bowel disease 13", "OMIM:600419": "Angiokeratoma corporis diffusum with arteriovenous fistulas", "OMIM:615411": "Cortical dysplasia, complex, with other brain malformations 3", "OMIM:609529": "Immunoglobulin A deficiency 2", "OMIM:236690": "Hydrocephalus, normal pressure, 1", "OMIM:310800": "Nystagmus, myoclonic", "OMIM:617784": "Fanconi anemia, complementation group W", "OMIM:238750": "Hyperlysinuria with hyperammonemia", "OMIM:618168": "Diarrhea 9", "OMIM:610251": "Alcohol sensitivity, acute", "OMIM:617604": "Microcephaly, short stature, and limb abnormalities", "OMIM:615236": "Woods syndrome", "OMIM:151610": "Levator-Medial rectus synkinesis", "OMIM:215250": "Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome", "OMIM:614520": "Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency", "OMIM:144010": "Hypercholesterolemia, familial, 2", "OMIM:603165": "Dermatitis, atopic", "OMIM:600089": "Pancreatic beta cell agenesis with neonatal diabetes mellitus", "OMIM:122700": "Coumarin resistance", "OMIM:613628": "Odontoid hypoplasia", "OMIM:300497": "Asperger syndrome susceptibility, X-linked 2", "OMIM:617600": "Intellectual developmental disorder, autosomal dominant 45", "OMIM:223550": "Dwarfism, proportionate, with hip dislocation", "OMIM:143500": "Gilbert syndrome", "OMIM:601371": "Cataract, age-related nuclear", "OMIM:178900": "Pupillary membrane, persistence of", "OMIM:147400": "Incisors, shovel-shaped", "OMIM:614847": "Epilepsy, idiopathic generalized, susceptibility to, 12", "OMIM:618550": "Oocyte maturation defect 7", "OMIM:110000": "Blepharochalasis, superior", "OMIM:115197": "Cardiomyopathy, familial hypertrophic, 4", "OMIM:132500": "Epistaxis, hereditary", "OMIM:308220": "Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein", "OMIM:617442": "Premature ovarian failure 13", "OMIM:616920": "Heart and brain malformation syndrome", "OMIM:617862": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "OMIM:615439": "Macular degeneration, age-related, 13", "OMIM:180300": "Rheumatoid arthritis", "OMIM:618093": "Spinocerebellar ataxia 48", "OMIM:191850": "Urticaria, aquagenic", "OMIM:106280": "Ankyloglossia with or without tooth anomalies", "OMIM:248100": "Macrosomia adiposa congenita", "OMIM:618042": "Pulmonary alveolar proteinosis with hypogammaglobulinemia", "OMIM:618500": "Holoprosencephaly 12 with or without pancreatic agenesis", "OMIM:613886": "Obesity, hyperphagia, and developmental delay", "OMIM:309840": "Modifier, X-linked, for neurofunctional defects", "OMIM:613291": "Bile acid malabsorption, primary", "OMIM:151640": "Lip, hamartomatous", "OMIM:616521": "Mental retardation, autosomal dominant 39", "OMIM:274200": "Thumb, distal hyperextensibility of", "OMIM:168800": "Parotidomegaly, hereditary bilateral", "OMIM:300972": "Immunodeficiency 47", "OMIM:265200": "Pulmonary bullae causing pneumothorax", "OMIM:300158": "Arthrogryposis, congenital, lower limb, X-linked", "OMIM:616959": "Retinitis pigmentosa and erythrocytic microcytosis", "OMIM:208600": "Asthma, short stature, and elevated iga", "OMIM:144050": "HYPERHEPARINEMIA", "OMIM:175450": "Polyposis, intestinal, with multiple exostoses", "OMIM:301024": "Intellectual developmental disorder, X-linked 108", "OMIM:187260": "Telangiectasia, hereditary benign", "OMIM:151700": "Lipoma of the conjunctiva", "OMIM:102300": "Restless legs syndrome, susceptibility to, 1", "OMIM:115195": "Cardiomyopathy, familial hypertrophic, 2", "OMIM:614575": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome", "OMIM:608106": "Immunodeficiency with hyper IgM, type 5", "OMIM:617991": "Developmental delay, intellectual disability, obesity, and dysmorphic features", "OMIM:618363": "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis", "OMIM:614033": "Glyoxalase II deficiency", "OMIM:106500": "Annular erythema", "OMIM:166950": "Teratoma, ovarian", "OMIM:134900": "Fibrinolytic defect", "OMIM:153800": "Macular degeneration, age-related, 2", "OMIM:613870": "Hirschsprung disease, cardiac defects, and autonomic dysfunction", "OMIM:122460": "Coronavirus 229E susceptibility", "OMIM:248260": "Magnesium, elevated red cell", "ORPHA:1786": "Acrofacial dysostosis, Catania type/Acrofacial dysostosis, Catania type", "OMIM:101805": "Acrofacial dysostosis, Catania type/Acrofacial dysostosis, Catania type", "OMIM:254120": "Muscular hypertonia, lethal", "OMIM:618116": "Bone marrow failure syndrome 4", "OMIM:255300": "Myopathy, congenital", "OMIM:192605": "Ventricular tachycardia, familial", "OMIM:611571": "Otosclerosis 4", "OMIM:161700": "Necrotizing encephalomyelopathy, subacute, of leigh, adult", "OMIM:617284": "Dystonia 28, childhood-onset", "OMIM:177990": "Pterygium colli, isolated", "ORPHA:1787": "Acrofacial dysostosis, Palagonia type", "OMIM:168600": "Parkinson disease, late-onset", "OMIM:178400": "Pulmonary edema of mountaineers", "OMIM:602199": "Medium chain 3-ketoacyl-coa thiolase deficiency", "OMIM:618092": "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities", "OMIM:617916": "Neurodegeneration with brain iron accumulation 7", "OMIM:147630": "Insulinomatosis and diabetes mellitus", "OMIM:243450": "Isovaleric acid, inability to smell", "OMIM:226735": "Epidermolysis bullosa with diaphragmatic hernia", "ORPHA:1788": "Acrofacial dysostosis, Rodríguez type/Acrofacial dysostosis syndrome of rodriguez", "OMIM:201170": "Acrofacial dysostosis, Rodríguez type/Acrofacial dysostosis syndrome of rodriguez", "OMIM:148300": "Keratoconus 1", "OMIM:190300": "Tremor, hereditary essential, 1", "OMIM:187550": "Thalassemia, beta+, silent allele", "OMIM:137100": "Immunoglobulin A deficiency 1", "OMIM:310350": "Myelolymphatic insufficiency", "OMIM:125320": "Dementia/parkinsonism with non-alzheimer amyloid plaques", "OMIM:209850": "Autism susceptibility 1", "OMIM:169545": "Pelvic lipomatosis with crossed renal ectopia", "OMIM:273770": "THREONINEMIA", "OMIM:613838": "Cardiomyopathy, familial hypertrophic, 16", "OMIM:616248": "Lethal congenital contracture syndrome 6", "OMIM:618324": "Congenital disorder of glycosylation with defective fucosylation 2", "OMIM:617260": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies", "OMIM:266350": "Red skin pigment anomaly of new guinea", "OMIM:617156": "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)", "OMIM:617882": "Charcot-Marie-Tooth disease, dominant intermediate G", "OMIM:500007": "Cyclic vomiting syndrome", "ORPHA:179": "Birdshot chorioretinopathy/Birdshot chorioretinopathy", "OMIM:605808": "Birdshot chorioretinopathy/Birdshot chorioretinopathy", "OMIM:102800": "Adenosine triphosphatase deficiency, anemia due to", "OMIM:614431": "Ventricular septal defect 2", "OMIM:191800": "Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT", "OMIM:610460": "THIOPURINE S-METHYLTRANSFERASE DEFICIENCY", "OMIM:617159": "Sifrim-Hitz-Weiss syndrome", "OMIM:607836": "Autoimmune disease, susceptibility to, 1", "OMIM:609222": "Dandy-Walker malformation with occipital cephalocele, autosomal dominant", "OMIM:261590": "Phenformin 4-hydroxylation", "ORPHA:1790": "Hypomandibular faciocranial dysostosis/Hypomandibular faciocranial dysostosis", "OMIM:241310": "Hypomandibular faciocranial dysostosis/Hypomandibular faciocranial dysostosis", "OMIM:243080": "Inosine phosphorylase deficiency, immune defect due to", "OMIM:122850": "Cranioacrofacial syndrome", "OMIM:156230": "Mesomelic dwarfism of hypoplastic tibia and Radius type", "OMIM:618004": "Epileptic encephalopathy, early infantile, 64", "OMIM:300425": "Autism susceptibility, X-linked 1", "OMIM:158650": "Muscular atrophy, malignant neurogenic", "OMIM:116870": "Celiac artery stenosis from compression by median arcuate ligamentof diaphragm", "OMIM:166990": "Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension", "OMIM:612089": "Hypophosphatemic rickets and hyperparathyroidism", "OMIM:241120": "Hypohidrosis with abnormal palmar dermal ridges", "OMIM:618174": "Cortical dysplasia, complex, with other brain malformations 9", "OMIM:617864": "Neurodevelopmental disorder with or without seizures and gait abnormalities", "OMIM:311100": "Optic atrophy--spastic paraplegia syndrome", "OMIM:618392": "Spondyloepiphyseal dysplasia, Kondo-Fu type", "OMIM:173580": "Platelet responsiveness to adrenaline, depressed", "OMIM:617769": "Spinocerebellar ataxia 45", "OMIM:614432": "Ventricular septal defect 3", "ORPHA:1791": "Frontofacionasal dysplasia/Frontofacionasal dysplasia", "OMIM:229400": "Frontofacionasal dysplasia/Frontofacionasal dysplasia", "OMIM:127700": "Dyslexia, susceptibility to, 1", "OMIM:130010": "Ehlers-Danlos syndrome, classic type, 2", "OMIM:605419": "Schizophrenia 10", "OMIM:617644": "Spermatogenic failure 21", "OMIM:600669": "Epilepsy, idiopathic generalized", "OMIM:617190": "Shashi-Pena syndrome", "OMIM:227850": "Fanconi-Like syndrome", "OMIM:615282": "Cortical dysplasia, complex, with other brain malformations 2", "ORPHA:1794": "Oculomaxillofacial dysostosis", "OMIM:179600": "Raynaud disease", "OMIM:189100": "Toe, misshapen", "OMIM:242550": "Ichthyosis, split hairs, and amino aciduria", "OMIM:309100": "Macular dystrophy, X-linked", "OMIM:151620": "Lichen planus, familial", "OMIM:617927": "Orofaciodigital syndrome XVIII", "OMIM:617895": "Short-Rib thoracic dysplasia 19 with or without polydactyly", "OMIM:166800": "OTOSCLEROSIS", "OMIM:221500": "Deafness, neural, congenital moderate", "ORPHA:101096": "Aregenerative anemia", "OMIM:611953": "Macular degeneration, age-related, 11", "OMIM:208750": "Ataxia, deafness, and cardiomyopathy", "OMIM:617879": "Leber congenital amaurosis with early-onset deafness", "OMIM:613949": "Okt4 epitope deficiency", "OMIM:618541": "Hypopigmentation, organomegaly, and delayed myelination and development", "OMIM:618265": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development", "OMIM:618247": "Mitochondrial complex I deficiency, nuclear type 26", "ORPHA:179494": "Obesity due to leptin receptor gene deficiency/Leptin receptor deficiency", "OMIM:614963": "Obesity due to leptin receptor gene deficiency/Leptin receptor deficiency", "OMIM:130070": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "OMIM:314100": "Thumbs, congenital clasped", "OMIM:238950": "Hyperopia, high", "OMIM:611961": "Stevenson-Carey syndrome", "OMIM:147330": "Incisors, lower central, absence of", "OMIM:179200": "Radial heads, posterior dislocation of", "OMIM:617519": "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "ORPHA:1795": "Peripheral dysostosis/Peripheral dysostosis", "OMIM:170700": "Peripheral dysostosis/Peripheral dysostosis", "OMIM:219050": "Cryptorchidism, unilateral or bilateral", "OMIM:118650": "Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included", "OMIM:181500": "Schizophrenia", "OMIM:131200": "Endometriosis, susceptibility to, 1", "OMIM:604308": "Mass syndrome", "OMIM:302600": "Spinocerebellar ataxia, X-linked 2", "OMIM:267900": "Retinal telangiectasia and hypogammaglobulinemia", "OMIM:617330": "Hypotonia, ataxia, and delayed development syndrome", "ORPHA:1797": "Autosomal dominant spondylocostal dysostosis", "OMIM:612713": "Kahrizi syndrome", "OMIM:617977": "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "OMIM:217990": "Corpus callosum, agenesis of", "OMIM:245180": "Kifafa seizure disorder", "OMIM:212067": "Congenital disorder of glycosylation, type I/IIx", "OMIM:618302": "Intellectual developmental disorder, autosomal recessive 68", "OMIM:618164": "Cardiac, facial, and digital anomalies with developmental delay", "OMIM:188055": "Thrombophilia due to deficiency of activated protein C cofactor", "OMIM:602071": "Broad terminal phalanges, familial", "ORPHA:1798": "Dysostosis, Stanescu type", "OMIM:247430": "Lymphoblastic transformation, inhibition of", "OMIM:610023": "Brachydactyly, coloboma, and anterior segment dysgenesis", "OMIM:617917": "Neurodegeneration with brain iron accumulation 8", "OMIM:212850": "Cerebellar ataxia and neurosensory deafness", "OMIM:618325": "Lissencephaly 9 with complex brainstem malformation", "OMIM:611962": "Hunter-Macdonald syndrome", "OMIM:109120": "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities", "OMIM:109050": "Auralcephalosyndactyly", "ORPHA:1799": "Familial developmental dysphasia/Dysphasia, familial developmental", "OMIM:600117": "Familial developmental dysphasia/Dysphasia, familial developmental", "OMIM:215550": "Circumvallate placenta syndrome", "OMIM:273120": "Teratoma, pineal", "OMIM:306960": "Hhhh syndrome", "OMIM:608320": "Coronary artery disease, autosomal dominant, 1", "OMIM:615926": "Webb-Dattani syndrome", "OMIM:617146": "Arthrogryposis, distal, with impaired proprioception and touch", "OMIM:300125": "Migraine, familial typical, susceptibility to, 2", "OMIM:147820": "Internal carotid artery, spontaneous dissection of", "OMIM:118000": "Cervical vertebral bridge", "OMIM:272650": "Tatsumi factor deficiency", "OMIM:300495": "Autism, susceptibility to, X-linked 2", "OMIM:120450": "Comedones, familial dyskeratotic", "OMIM:601039": "Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin", "OMIM:606263": "Paget disease of bone 4", "OMIM:606721": "Lipodystrophy, familial partial, type 7", "OMIM:608175": "Autoimmune thyroid disease, susceptibility to, 3", "OMIM:617255": "Lissencephaly 8", "ORPHA:180": "Choroideremia/CHOROIDEREMIA", "OMIM:303100": "Choroideremia/CHOROIDEREMIA", "OMIM:618356": "Neurodevelopmental disorder with central and peripheral motor dysfunction", "OMIM:260100": "Pa polymorphism of alpha-2-globulin", "OMIM:146600": "Ichthyosis hystrix gravior", "OMIM:146750": "Ichthyosis, lamellar, autosomal dominant", "OMIM:221700": "Deafness, neural, with atypical atopic dermatitis", "OMIM:618529": "Robinow syndrome, autosomal recessive 2", "OMIM:618479": "Cerebellar, ocular, craniofacial, and genital syndrome", "OMIM:165680": "Ossicular malformations, familial", "OMIM:126180": "Discrimination, two-point, reduction in", "OMIM:613950": "Schizophrenia 15", "OMIM:308950": "Lesch-Nyhan phenotype with normal hgprt", "OMIM:214290": "Cervical vertebrae, agenesis of", "OMIM:223200": "Disorganization, mouse, homolog of", "OMIM:187350": "TELECANTHUS", "OMIM:618124": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "OMIM:140600": "Osteoarthritis of distal interphalangeal joints", "OMIM:251900": "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy", "OMIM:613251": "Cardiomyopathy, familial hypertrophic, 14", "OMIM:617194": "Lethal congenital contracture syndrome 11", "OMIM:156190": "Mental and growth retardation with amblyopia", "OMIM:144110": "Hyperhidrosis palmaris et plantaris", "OMIM:100600": "Acanthosis nigricans", "OMIM:614622": "Keratoconus 5", "OMIM:145800": "Hypertrophia musculorum vera", "OMIM:191150": "Tuftsin deficiency", "OMIM:161530": "Nasal hyperpigmentation, familial transverse", "OMIM:124300": "Darwinian point of pinna", "OMIM:618273": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", "OMIM:192100": "Uvula, bifid", "OMIM:247950": "Lysine malabsorption syndrome", "OMIM:601979": "Hyperzincemia with functional zinc depletion", "OMIM:151430": "B-CELL CLL/LYMPHOMA 2", "OMIM:124950": "Deafness, sensorineural, with peripheral neuropathy and arterial disease", "OMIM:217200": "Convulsive disorder, familial, with prenatal or early onset", "OMIM:113950": "Bundle branch block, familial isolated complete right", "OMIM:102350": "Acromial dimples", "OMIM:610504": "Preterm premature rupture of the membranes", "OMIM:607236": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration", "OMIM:270600": "Spastic diplegia, Infantile type", "OMIM:618162": "Spondyloepimetaphyseal dysplasia, Krakow type", "OMIM:600906": "Ectodermal dysplasia with mental retardation and syndactyly", "OMIM:204730": "Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis", "OMIM:226100": "Endocardial fibroelastosis and coarctation of abdominal aorta", "OMIM:609649": "Trichilemmal cyst 1", "OMIM:183020": "Spinal muscular atrophy, segmental", "OMIM:617101": "Intellectual developmental disorder with persistence of fetal hemoglobin", "OMIM:167250": "Paget disease of bone 3", "OMIM:121210": "Febrile seizures, familial, 1", "OMIM:185460": "Sulfhemoglobinemia, congenital", "OMIM:608762": "Epilepsy, idiopathic generalized, susceptibility to, 3", "OMIM:617974": "Spondyloepimetaphyseal dysplasia, DI Rocco type", "OMIM:208700": "Ataxia with myoclonic epilepsy and presenile dementia", "OMIM:150170": "Lactic acidosis, chronic adult form", "OMIM:606711": "Specific language impairment 1", "OMIM:617349": "Aortic aneurysm, familial thoracic 11, susceptibility to", "OMIM:617360": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", "OMIM:243400": "Acetylation, slow", "ORPHA:1055": "Congenital left ventricular aneurysm", "ORPHA:2989": "Familial pterygium of the conjunctiva", "ORPHA:251639": "Subependymoma", "ORPHA:251643": "Myxopapillary ependymoma", "ORPHA:1801": "Kyphomelic dysplasia/Kyphomelic dysplasia", "OMIM:211350": "Kyphomelic dysplasia/Kyphomelic dysplasia", "ORPHA:251636": "Ependymoma", "OMIM:605589": "Charcot-Marie-Tooth disease, axonal, type 2B2", "OMIM:607731": "Charcot-Marie-Tooth disease, axonal, type 2H", "OMIM:113670": "Breast, unilateral giant", "ORPHA:1802": "Ghosal hematodiaphyseal dysplasia/Ghosal hematodiaphyseal dysplasia", "OMIM:231095": "Ghosal hematodiaphyseal dysplasia/Ghosal hematodiaphyseal dysplasia", "ORPHA:180229": "Polyembryoma", "ORPHA:1803": "Thoracomelic dysplasia/Thoracomelic dysplasia", "OMIM:273740": "Thoracomelic dysplasia/Thoracomelic dysplasia", "ORPHA:101108": "Spinocerebellar ataxia type 23/Spinocerebellar ataxia 23", "OMIM:610245": "Spinocerebellar ataxia type 23/Spinocerebellar ataxia 23", "ORPHA:1806": "Ectodermal dysplasia-blindness syndrome/Rodrigues blindness", "OMIM:268320": "Ectodermal dysplasia-blindness syndrome/Rodrigues blindness", "ORPHA:1807": "Focal facial dermal dysplasia type III/Focal facial dermal dysplasia 3, Setleis type", "OMIM:227260": "Focal facial dermal dysplasia type III/Focal facial dermal dysplasia 3, Setleis type", "ORPHA:1808": "Hidrotic ectodermal dysplasia, Christianson-Fourie type", "ORPHA:1809": "Hidrotic ectodermal dysplasia, Halal type", "ORPHA:101109": "Spinocerebellar ataxia type 28/Spinocerebellar ataxia 28", "OMIM:610246": "Spinocerebellar ataxia type 28/Spinocerebellar ataxia 28", "ORPHA:181": "X-linked hypohidrotic ectodermal dysplasia/Ectodermal dysplasia 1, hypohidrotic, X-linked", "OMIM:305100": "X-linked hypohidrotic ectodermal dysplasia/Ectodermal dysplasia 1, hypohidrotic, X-linked", "ORPHA:1810": "Autosomal dominant hypohidrotic ectodermal dysplasia", "ORPHA:1811": "Odontomicronychial dysplasia/Odontomicronychial dysplasia", "OMIM:601319": "Odontomicronychial dysplasia/Odontomicronychial dysplasia", "ORPHA:1812": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome/Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum", "OMIM:225040": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome/Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum", "ORPHA:101110": "Spinocerebellar ataxia type 20/Spinocerebellar ataxia 20", "OMIM:608687": "Spinocerebellar ataxia type 20/Spinocerebellar ataxia 20", "ORPHA:181393": "Growth hormone insensitivity syndrome", "ORPHA:101111": "Spinocerebellar ataxia type 25/Spinocerebellar ataxia 25", "OMIM:608703": "Spinocerebellar ataxia type 25/Spinocerebellar ataxia 25", "ORPHA:1816": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome/Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis", "OMIM:246500": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome/Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis", "ORPHA:1818": "Ectodermal dysplasia, trichoodontoonychial type", "ORPHA:101112": "Spinocerebellar ataxia type 26/Spinocerebellar ataxia 26", "OMIM:609306": "Spinocerebellar ataxia type 26/Spinocerebellar ataxia 26", "ORPHA:182050": "MYH9-related disease/Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "OMIM:155100": "MYH9-related disease/Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "OMIM:137800": "Glioma susceptibility 1", "ORPHA:101150": "Autosomal recessive dopa-responsive dystonia/Segawa syndrome, autosomal recessive", "OMIM:605407": "Autosomal recessive dopa-responsive dystonia/Segawa syndrome, autosomal recessive", "ORPHA:1822": "Dysplasia epiphysealis hemimelica/Dysplasia epiphysealis hemimelica", "OMIM:127800": "Dysplasia epiphysealis hemimelica/Dysplasia epiphysealis hemimelica", "ORPHA:101330": "Porphyria cutanea tarda", "ORPHA:1824": "Lowry-Wood syndrome/Lowry-Wood syndrome", "OMIM:226960": "Lowry-Wood syndrome/Lowry-Wood syndrome", "ORPHA:1825": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "ORPHA:1826": "Frontometaphyseal dysplasia", "ORPHA:1827": "Acromelic frontonasal dysplasia/Acromelic frontonasal dysostosis", "OMIM:603671": "Acromelic frontonasal dysplasia/Acromelic frontonasal dysostosis", "ORPHA:183": "Eosinophilic granulomatosis with polyangiitis", "ORPHA:1830": "Schimke immuno-osseous dysplasia/Immunoosseous dysplasia, Schimke type", "OMIM:242900": "Schimke immuno-osseous dysplasia/Immunoosseous dysplasia, Schimke type", "ORPHA:1832": "Lethal osteosclerotic bone dysplasia/Raine syndrome", "OMIM:259775": "Lethal osteosclerotic bone dysplasia/Raine syndrome", "ORPHA:1834": "Axial mesodermal dysplasia spectrum", "OMIM:271400": "Asplenia, isolated congenital", "ORPHA:1014": "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome", "ORPHA:1836": "Mesomelic dysplasia, Kantaputra type/Mesomelic dysplasia, Kantaputra type", "OMIM:156232": "Mesomelic dysplasia, Kantaputra type/Mesomelic dysplasia, Kantaputra type", "ORPHA:1018": "X-linked Alport syndrome-diffuse leiomyomatosis/Leiomyomatosis, diffuse, with alport syndrome", "OMIM:308940": "X-linked Alport syndrome-diffuse leiomyomatosis/Leiomyomatosis, diffuse, with alport syndrome", "ORPHA:183675": "Recurrent infections associated with rare immunoglobulin isotypes deficiency/Immunoglobulin kappa light chain deficiency", "OMIM:614102": "Recurrent infections associated with rare immunoglobulin isotypes deficiency/Immunoglobulin kappa light chain deficiency", "OMIM:608233": "Hermansky-Pudlak syndrome 2", "ORPHA:1837": "Ulna metaphyseal dysplasia syndrome/Ulna metaphyseal dysplasia syndrome", "OMIM:191420": "Ulna metaphyseal dysplasia syndrome/Ulna metaphyseal dysplasia syndrome", "ORPHA:183707": "Neutrophil immunodeficiency syndrome/Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis", "OMIM:608203": "Neutrophil immunodeficiency syndrome/Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis", "ORPHA:183713": "Bacterial susceptibility due to TLR signaling pathway deficiency/Immunodeficiency 68", "OMIM:612260": "Bacterial susceptibility due to TLR signaling pathway deficiency/Immunodeficiency 68", "ORPHA:1839": "Hereditary mucoepithelial dysplasia/Mucoepithelial dysplasia, hereditary", "OMIM:158310": "Hereditary mucoepithelial dysplasia/Mucoepithelial dysplasia, hereditary", "ORPHA:184": "Cherubism/Cherubism", "OMIM:118400": "Cherubism/Cherubism", "ORPHA:1842": "Bone dysplasia, lethal Holmgren type", "ORPHA:1848": "Renal agenesis, bilateral/Renal hypodysplasia/aplasia 1", "OMIM:191830": "Renal agenesis, bilateral/Renal hypodysplasia/aplasia 1", "ORPHA:185": "Scimitar syndrome", "ORPHA:1852": "X-linked retinal dysplasia/Retinal dysplasia, primary", "OMIM:312550": "X-linked retinal dysplasia/Retinal dysplasia, primary", "ORPHA:1855": "Spondyloenchondrodysplasia", "ORPHA:1856": "Spondyloperipheral dysplasia-short ulna syndrome/Spondyloperipheral dysplasia", "OMIM:271700": "Spondyloperipheral dysplasia-short ulna syndrome/Spondyloperipheral dysplasia", "ORPHA:1858": "Skeletal dysplasia-epilepsy-short stature syndrome/Gurrieri syndrome", "OMIM:601187": "Skeletal dysplasia-epilepsy-short stature syndrome/Gurrieri syndrome", "ORPHA:186": "Primary biliary cholangitis", "ORPHA:1860": "Thanatophoric dysplasia type 1/Thanatophoric dysplasia, type I", "OMIM:187600": "Thanatophoric dysplasia type 1/Thanatophoric dysplasia, type I", "ORPHA:1861": "Thoracic dysplasia-hydrocephalus syndrome", "ORPHA:1865": "Dyssegmental dysplasia, Silverman-Handmaker type/Dyssegmental dysplasia, Silverman-Handmaker type", "OMIM:224410": "Dyssegmental dysplasia, Silverman-Handmaker type/Dyssegmental dysplasia, Silverman-Handmaker type", "ORPHA:1867": "Hereditary bullous dystrophy, macular type/Bullous dystrophy, hereditary Macular type", "OMIM:302000": "Hereditary bullous dystrophy, macular type/Bullous dystrophy, hereditary Macular type", "CCRD:18": "瓜氨酸血症/Citrullinemia", "ORPHA:1871": "Progressive cone dystrophy", "ORPHA:1872": "Cone rod dystrophy/Cone-Rod dystrophy 2", "OMIM:120970": "Cone rod dystrophy/Cone-Rod dystrophy 2", "ORPHA:1873": "Jalili syndrome/Jalili syndrome", "OMIM:217080": "Jalili syndrome/Jalili syndrome", "ORPHA:1875": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome/Muscular dystrophy, congenital, with infantile cataract and hypogonadism", "OMIM:254000": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome/Muscular dystrophy, congenital, with infantile cataract and hypogonadism", "ORPHA:1876": "Oculogastrointestinal muscular dystrophy/Visceral myopathy, familial, with external ophthalmoplegia", "OMIM:277320": "Oculogastrointestinal muscular dystrophy/Visceral myopathy, familial, with external ophthalmoplegia", "ORPHA:1878": "TRIM32-related limb-girdle muscular dystrophy R8/Muscular dystrophy, limb-girdle, type 2H", "OMIM:254110": "TRIM32-related limb-girdle muscular dystrophy R8/Muscular dystrophy, limb-girdle, type 2H", "ORPHA:1879": "Melorheostosis with osteopoikilosis", "ORPHA:188": "Systemic capillary leak syndrome", "ORPHA:1880": "Ebstein malformation of the tricuspid valve/Ebstein anomaly", "OMIM:224700": "Ebstein malformation of the tricuspid valve/Ebstein anomaly", "ORPHA:1882": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome/Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia", "OMIM:225050": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome/Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia", "ORPHA:1883": "Ectodermal dysplasia-sensorineural deafness syndrome/Ectodermal dysplasia and neurosensory deafness", "OMIM:224800": "Ectodermal dysplasia-sensorineural deafness syndrome/Ectodermal dysplasia and neurosensory deafness", "ORPHA:1885": "Isolated ectopia lentis", "ORPHA:189": "Hidrotic ectodermal dysplasia/Clouston syndrome", "OMIM:129500": "Hidrotic ectodermal dysplasia/Clouston syndrome", "ORPHA:1891": "Intellectual disability-spasticity-ectrodactyly syndrome/Limb defects, distal transverse, with mental retardation and spasticity", "OMIM:246555": "Intellectual disability-spasticity-ectrodactyly syndrome/Limb defects, distal transverse, with mental retardation and spasticity", "ORPHA:1892": "Ectrodactyly-polydactyly syndrome/ECTRODACTYLY-POLYDACTYLY", "OMIM:225290": "Ectrodactyly-polydactyly syndrome/ECTRODACTYLY-POLYDACTYLY", "ORPHA:189427": "Cushing syndrome due to macronodular adrenal hyperplasia/ACTH-independent macronodular adrenal hyperplasia", "OMIM:219080": "Cushing syndrome due to macronodular adrenal hyperplasia/ACTH-independent macronodular adrenal hyperplasia", "ORPHA:189439": "Primary pigmented nodular adrenocortical disease", "ORPHA:1895": "Edinburgh malformation syndrome/Edinburgh malformation syndrome", "OMIM:129850": "Edinburgh malformation syndrome/Edinburgh malformation syndrome", "ORPHA:1896": "EEC syndrome/Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3", "OMIM:604292": "EEC syndrome/Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3", "ORPHA:1897": "EEM syndrome/Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome", "OMIM:225280": "EEM syndrome/Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome", "ORPHA:1899": "Arthrochalasia Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, arthrochalasia type, 1", "OMIM:130060": "Arthrochalasia Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, arthrochalasia type, 1", "ORPHA:190": "Coats disease/Coats disease", "OMIM:300216": "Coats disease/Coats disease", "ORPHA:1900": "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 1", "OMIM:225400": "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 1", "ORPHA:1901": "Dermatosparaxis Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, dermatosparaxis type", "OMIM:225410": "Dermatosparaxis Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, dermatosparaxis type", "ORPHA:1906": "Fetal valproate spectrum disorder", "ORPHA:1908": "Aminopterin/methotrexate embryofetopathy", "ORPHA:1909": "Indomethacin embryofetopathy", "ORPHA:191": "Cockayne syndrome", "ORPHA:1910": "Fetal iodine syndrome/Fetal iodine deficiency disorder", "OMIM:228355": "Fetal iodine syndrome/Fetal iodine deficiency disorder", "ORPHA:1911": "Cocaine embryofetopathy", "ORPHA:1912": "Fetal hydantoin syndrome", "ORPHA:1913": "Fetal trimethadione syndrome", "ORPHA:1914": "Vitamin K antagonist embryofetopathy", "ORPHA:1915": "Fetal alcohol syndrome", "ORPHA:1916": "Diethylstilbestrol syndrome", "ORPHA:1917": "Fetal methylmercury syndrome", "ORPHA:1918": "Fetal minoxidil syndrome", "ORPHA:1919": "Phenobarbital embryopathy", "ORPHA:192": "Coffin-Lowry syndrome/Coffin-Lowry syndrome", "OMIM:303600": "Coffin-Lowry syndrome/Coffin-Lowry syndrome", "ORPHA:1920": "Toluene embryopathy", "ORPHA:1923": "Methimazole embryofetopathy", "ORPHA:1926": "Diabetic embryopathy", "ORPHA:1927": "Emery-Nelson syndrome", "ORPHA:1928": "Congenital lobar emphysema/Emphysema, congenital lobar", "OMIM:130710": "Congenital lobar emphysema/Emphysema, congenital lobar", "ORPHA:193": "Cohen syndrome/Cohen syndrome", "OMIM:216550": "Cohen syndrome/Cohen syndrome", "ORPHA:1930": "Herpes simplex virus encephalitis/Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1", "OMIM:610551": "Herpes simplex virus encephalitis/Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1", "ORPHA:1931": "Frontal encephalocele", "ORPHA:1933": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)", "OMIM:612073": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria/Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)", "ORPHA:1934": "Early infantile epileptic encephalopathy", "ORPHA:1935": "Early myoclonic encephalopathy", "ORPHA:1937": "Eng-Strom syndrome/Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature", "OMIM:135950": "Eng-Strom syndrome/Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature", "ORPHA:1941": "Juvenile absence epilepsy/Epilepsy, juvenile absence", "OMIM:607631": "Juvenile absence epilepsy/Epilepsy, juvenile absence", "ORPHA:1942": "Myoclonic-astatic epilepsy", "ORPHA:1945": "Rolandic epilepsy/Centralopathic epilepsy", "OMIM:117100": "Rolandic epilepsy/Centralopathic epilepsy", "ORPHA:1946": "Amelocerebrohypohidrotic syndrome/Kohlschutter-Tonz syndrome", "OMIM:226750": "Amelocerebrohypohidrotic syndrome/Kohlschutter-Tonz syndrome", "ORPHA:1947": "Progressive epilepsy-intellectual disability syndrome, Finnish type/Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant", "OMIM:610003": "Progressive epilepsy-intellectual disability syndrome, Finnish type/Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant", "ORPHA:1948": "Epilepsy-microcephaly-skeletal dysplasia syndrome/Mental retardation, microcephaly, epilepsy, and coarse face", "OMIM:601352": "Epilepsy-microcephaly-skeletal dysplasia syndrome/Mental retardation, microcephaly, epilepsy, and coarse face", "ORPHA:1949": "Benign familial neonatal epilepsy/Seizures, benign familial neonatal, 1", "OMIM:121200": "Benign familial neonatal epilepsy/Seizures, benign familial neonatal, 1", "ORPHA:195": "Cat-eye syndrome/Cat eye syndrome", "OMIM:115470": "Cat-eye syndrome/Cat eye syndrome", "ORPHA:1951": "Epilepsy-telangiectasia syndrome/EPILEPSY-TELANGIECTASIA", "OMIM:226850": "Epilepsy-telangiectasia syndrome/EPILEPSY-TELANGIECTASIA", "ORPHA:1952": "Epiphyseal stippling-osteoclastic hyperplasia syndrome/Pacman dysplasia", "OMIM:167220": "Epiphyseal stippling-osteoclastic hyperplasia syndrome/Pacman dysplasia", "ORPHA:1954": "Congenital lethal erythroderma/Erythroderma, lethal congenital", "OMIM:227090": "Congenital lethal erythroderma/Erythroderma, lethal congenital", "ORPHA:1955": "Spinocerebellar ataxia type 34/Spinocerebellar ataxia 34", "OMIM:133190": "Spinocerebellar ataxia type 34/Spinocerebellar ataxia 34", "ORPHA:1959": "Evans syndrome", "ORPHA:1962": "Exostoses-anetodermia-brachydactyly type E syndrome/Exostoses with anetodermia and brachydactyly, type E", "OMIM:133690": "Exostoses-anetodermia-brachydactyly type E syndrome/Exostoses with anetodermia and brachydactyly, type E", "ORPHA:1964": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "ORPHA:1968": "Flat face-microstomia-ear anomaly syndrome/Simosa craniofacial syndrome", "OMIM:182150": "Flat face-microstomia-ear anomaly syndrome/Simosa craniofacial syndrome", "ORPHA:1969": "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome", "ORPHA:1970": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "ORPHA:1972": "Lethal faciocardiomelic dysplasia/Faciocardiomelic dysplasia, lethal", "OMIM:227270": "Lethal faciocardiomelic dysplasia/Faciocardiomelic dysplasia, lethal", "ORPHA:1973": "Faciocardiorenal syndrome", "ORPHA:1974": "Autosomal recessive faciodigitogenital syndrome/Faciodigitogenital syndrome, autosomal recessive", "OMIM:227330": "Autosomal recessive faciodigitogenital syndrome/Faciodigitogenital syndrome, autosomal recessive", "ORPHA:1979": "Lipodystrophy due to peptidic growth factors deficiency", "ORPHA:198": "Occipital horn syndrome/Occipital horn syndrome", "OMIM:304150": "Occipital horn syndrome/Occipital horn syndrome", "ORPHA:1980": "Bilateral striopallidodentate calcinosis/Basal ganglia calcification, idiopathic, 1", "OMIM:213600": "Bilateral striopallidodentate calcinosis/Basal ganglia calcification, idiopathic, 1", "ORPHA:1986": "Gollop-Wolfgang complex/Femur, unilateral bifid, with monodactylous ectrodactyly", "OMIM:228250": "Gollop-Wolfgang complex/Femur, unilateral bifid, with monodactylous ectrodactyly", "ORPHA:1988": "Femoral-facial syndrome/Femoral-facial syndrome", "OMIM:134780": "Femoral-facial syndrome/Femoral-facial syndrome", "ORPHA:199": "Cornelia de Lange syndrome/Cornelia de Lange syndrome 1", "OMIM:122470": "Cornelia de Lange syndrome/Cornelia de Lange syndrome 1", "ORPHA:1991": "Cleft lip with or without cleft palate", "ORPHA:199244": "Nelson syndrome", "OMIM:611489": "Corticosteroid-binding globulin deficiency", "ORPHA:199251": "Ledderhose disease", "ORPHA:199267": "Infantile digital fibromatosis", "ORPHA:199276": "Familial multiple lipomatosis/Lipomatosis, multiple", "OMIM:151900": "Familial multiple lipomatosis/Lipomatosis, multiple", "OMIM:206550": "Angiolipomatosis, familial", "OMIM:115300": "Carotenemia, familial", "ORPHA:199296": "Congenital isolated ACTH deficiency/Acth deficiency, isolated", "OMIM:201400": "Congenital isolated ACTH deficiency/Acth deficiency, isolated", "ORPHA:199299": "Late-onset isolated ACTH deficiency", "ORPHA:1993": "Pai syndrome/Cleft, median, of upper lip with polyps of facial skin and nasal mucosa", "OMIM:155145": "Pai syndrome/Cleft, median, of upper lip with polyps of facial skin and nasal mucosa", "ORPHA:199302": "Isolated cleft lip", "ORPHA:199306": "Cleft lip/palate", "ORPHA:199310": "Tetragametic chimerism", "ORPHA:199318": "15q13.3 microdeletion syndrome/Chromosome 15q13.3 microdeletion syndrome", "OMIM:612001": "15q13.3 microdeletion syndrome/Chromosome 15q13.3 microdeletion syndrome", "OMIM:612651": "ENDOCRINE-CEREBROOSTEODYSPLASIA", "OMIM:612714": "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis", "OMIM:612954": "Myopathy, myofibrillar, 6", "ORPHA:199343": "EAST syndrome/Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance", "OMIM:612780": "EAST syndrome/Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance", "ORPHA:199351": "Adult-onset dystonia-parkinsonism/Parkinson disease 14, autosomal recessive", "OMIM:612953": "Adult-onset dystonia-parkinsonism/Parkinson disease 14, autosomal recessive", "ORPHA:199354": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy/Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)", "OMIM:600142": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy/Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)", "ORPHA:1995": "Cleft lip-retinopathy syndrome", "ORPHA:1997": "Blepharo-cheilo-odontic syndrome/Blepharocheilodontic syndrome 1", "OMIM:119580": "Blepharo-cheilo-odontic syndrome/Blepharocheilodontic syndrome 1", "ORPHA:20": "3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency", "OMIM:246450": "3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency", "ORPHA:2001": "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "ORPHA:2003": "Cleft lip/palate-deafness-sacral lipoma syndrome", "ORPHA:2004": "Laryngotracheoesophageal cleft", "OMIM:610984": "Complement factor I deficiency", "ORPHA:2007": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome/Frontonasal dysplasia with alar clefts", "OMIM:203000": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome/Frontonasal dysplasia with alar clefts", "ORPHA:2008": "Acrocardiofacial syndrome/Cleft palate, cardiac defect, genital anomalies, and ectrodactyly", "OMIM:600460": "Acrocardiofacial syndrome/Cleft palate, cardiac defect, genital anomalies, and ectrodactyly", "ORPHA:201": "Cowden syndrome/Cowden syndrome 1", "OMIM:158350": "Cowden syndrome/Cowden syndrome 1", "ORPHA:2010": "Cleft palate-stapes fixation-oligodontia syndrome/Cleft palate, deafness, and oligodontia", "OMIM:216300": "Cleft palate-stapes fixation-oligodontia syndrome/Cleft palate, deafness, and oligodontia", "ORPHA:2013": "Cleft palate-large ears-small head syndrome/Say syndrome", "OMIM:181180": "Cleft palate-large ears-small head syndrome/Say syndrome", "OMIM:119540": "Cleft palate, isolated", "ORPHA:2015": "Cleft palate-short stature-vertebral anomalies syndrome", "ORPHA:2016": "Cleft palate-lateral synechia syndrome/Cleft palate-lateral synechia syndrome", "OMIM:119550": "Cleft palate-lateral synechia syndrome/Cleft palate-lateral synechia syndrome", "ORPHA:2017": "Sternal cleft", "ORPHA:2019": "Femur-fibula-ulna complex", "ORPHA:202": "Crandall syndrome", "ORPHA:2020": "Congenital fiber-type disproportion myopathy/Myopathy, congenital, with fiber-type disproportion", "OMIM:255310": "Congenital fiber-type disproportion myopathy/Myopathy, congenital, with fiber-type disproportion", "ORPHA:2021": "Fibrochondrogenesis/Fibrochondrogenesis 1", "OMIM:228520": "Fibrochondrogenesis/Fibrochondrogenesis 1", "ORPHA:2022": "Endocardial fibroelastosis", "ORPHA:2023": "Undifferentiated pleomorphic sarcoma", "ORPHA:2024": "Hereditary gingival fibromatosis/Fibromatosis, gingival, 1", "OMIM:135300": "Hereditary gingival fibromatosis/Fibromatosis, gingival, 1", "ORPHA:2025": "Gingival fibromatosis-facial dysmorphism syndrome", "ORPHA:2026": "Gingival fibromatosis-hypertrichosis syndrome/Hypertrichosis terminalis, generalized, with or without gingival hyperplasia", "OMIM:135400": "Gingival fibromatosis-hypertrichosis syndrome/Hypertrichosis terminalis, generalized, with or without gingival hyperplasia", "ORPHA:2027": "Gingival fibromatosis-progressive deafness syndrome/Fibromatosis, gingival, with progressive deafness", "OMIM:135550": "Gingival fibromatosis-progressive deafness syndrome/Fibromatosis, gingival, with progressive deafness", "ORPHA:2028": "Juvenile hyaline fibromatosis", "ORPHA:2031": "Hepatic fibrosis-renal cysts-intellectual disability syndrome/Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome", "OMIM:213010": "Hepatic fibrosis-renal cysts-intellectual disability syndrome/Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome", "CCRD:55": "特发性肺纤维化/Idiopathic pulmonary fibrosis; IPF/Idiopathic pulmonary fibrosis/Pulmonary fibrosis, idiopathic", "ORPHA:2032": "特发性肺纤维化/Idiopathic pulmonary fibrosis; IPF/Idiopathic pulmonary fibrosis/Pulmonary fibrosis, idiopathic", "OMIM:178500": "特发性肺纤维化/Idiopathic pulmonary fibrosis; IPF/Idiopathic pulmonary fibrosis/Pulmonary fibrosis, idiopathic", "ORPHA:2036": "Scalp-ear-nipple syndrome/Scalp-ear-nipple syndrome", "OMIM:181270": "Scalp-ear-nipple syndrome/Scalp-ear-nipple syndrome", "ORPHA:2038": "Pulmonary arteriovenous malformation", "ORPHA:204": "Sporadic Creutzfeldt-Jakob disease", "ORPHA:2040": "Congenital respiratory-biliary fistula", "ORPHA:2044": "Floating-Harbor syndrome/Floating-Harbor syndrome", "OMIM:136140": "Floating-Harbor syndrome/Floating-Harbor syndrome", "ORPHA:2045": "FLOTCH syndrome", "ORPHA:2047": "Flynn-Aird syndrome/Flynn-Aird syndrome", "OMIM:136300": "Flynn-Aird syndrome/Flynn-Aird syndrome", "ORPHA:2048": "Foix-Chavany-Marie syndrome", "ORPHA:205": "Crigler-Najjar syndrome", "ORPHA:2050": "Cole-Carpenter syndrome/Cole-Carpenter syndrome 1", "OMIM:112240": "Cole-Carpenter syndrome/Cole-Carpenter syndrome 1", "ORPHA:2052": "Fraser syndrome", "ORPHA:2053": "Freeman-Sheldon syndrome/Arthrogryposis, distal, type 2A", "OMIM:193700": "Freeman-Sheldon syndrome/Arthrogryposis, distal, type 2A", "ORPHA:2056": "Essential fructosuria/Fructosuria, essential", "OMIM:229800": "Essential fructosuria/Fructosuria, essential", "ORPHA:2057": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome/Blepharophimosis with ptosis, syndactyly, and short stature", "OMIM:210745": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome/Blepharophimosis with ptosis, syndactyly, and short stature", "ORPHA:2058": "Fryns-Smeets-Thiry syndrome", "ORPHA:2059": "Fryns syndrome/Fryns syndrome", "OMIM:229850": "Fryns syndrome/Fryns syndrome", "ORPHA:2062": "Progressive non-infectious anterior vertebral fusion", "ORPHA:2063": "Splenogonadal fusion-limb defects-micrognathia syndrome/Splenogonadal fusion with limb defects and micrognathia", "OMIM:183300": "Splenogonadal fusion-limb defects-micrognathia syndrome/Splenogonadal fusion with limb defects and micrognathia", "ORPHA:2064": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome/Vertebral fusion, posterior lumbosacral, with blepharoptosis", "OMIM:192800": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome/Vertebral fusion, posterior lumbosacral, with blepharoptosis", "ORPHA:206484": "Gonadoblastoma/GONADOBLASTOMA", "OMIM:424500": "Gonadoblastoma/GONADOBLASTOMA", "ORPHA:2065": "Galloway-Mowat syndrome", "ORPHA:206549": "Anoctamin-5-related limb-girdle muscular dystrophy R12/Muscular dystrophy, limb-girdle, type 2L", "OMIM:611307": "Anoctamin-5-related limb-girdle muscular dystrophy R12/Muscular dystrophy, limb-girdle, type 2L", "CCRD:94": "原发性联合免疫缺陷病/Combined immunodeficiency; CID", "OMIM:611588": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "ORPHA:206559": "POMT2-related limb-girdle muscular dystrophy R14/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "OMIM:613158": "POMT2-related limb-girdle muscular dystrophy R14/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "OMIM:613157": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "OMIM:611067": "Spinal muscular atrophy, distal, autosomal recessive, 4", "ORPHA:206583": "Adult polyglucosan body disease/Polyglucosan body neuropathy, adult form", "OMIM:263570": "Adult polyglucosan body disease/Polyglucosan body neuropathy, adult form", "OMIM:613163": "GABA-transaminase deficiency", "CCRD:78": "强直性肌营养不良/Myotonic dystrophy; DM", "ORPHA:2067": "GAPO syndrome/GAPO syndrome", "OMIM:230740": "GAPO syndrome/GAPO syndrome", "ORPHA:2069": "Gastrocutaneous syndrome/Gastrocutaneous syndrome", "OMIM:137270": "Gastrocutaneous syndrome/Gastrocutaneous syndrome", "CCRD:22": "先天性肌强直/Congenital myotonia", "ORPHA:207": "Crouzon syndrome/Crouzon syndrome", "OMIM:123500": "Crouzon syndrome/Crouzon syndrome", "ORPHA:2070": "Eosinophilic gastroenteritis", "ORPHA:2072": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome/Gaucher disease, type IIIC", "OMIM:231005": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome/Gaucher disease, type IIIC", "ORPHA:2073": "Narcolepsy type 1", "ORPHA:2074": "Gemignani syndrome", "ORPHA:2075": "Genitopalatocardiac syndrome/Genitopalatocardiac syndrome", "OMIM:231060": "Genitopalatocardiac syndrome/Genitopalatocardiac syndrome", "ORPHA:2077": "German syndrome", "ORPHA:2078": "Geroderma osteodysplastica/Geroderma osteodysplasticum", "OMIM:231070": "Geroderma osteodysplastica/Geroderma osteodysplasticum", "ORPHA:2083": "Prominent glabella-microcephaly-hypogenitalism syndrome/Macdermot-Winter syndrome", "OMIM:247990": "Prominent glabella-microcephaly-hypogenitalism syndrome/Macdermot-Winter syndrome", "ORPHA:2084": "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome/Weill-Marchesani syndrome 2, dominant", "OMIM:608328": "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome/Weill-Marchesani syndrome 2, dominant", "ORPHA:208441": "Bilateral parasagittal parieto-occipital polymicrogyria/Polymicrogyria, bilateral temporooccipital", "OMIM:612691": "Bilateral parasagittal parieto-occipital polymicrogyria/Polymicrogyria, bilateral temporooccipital", "ORPHA:2085": "Glaucoma-sleep apnea syndrome/Glaucoma - sleep apnea", "OMIM:137763": "Glaucoma-sleep apnea syndrome/Glaucoma - sleep apnea", "ORPHA:208513": "Spinocerebellar ataxia type 29/Spinocerebellar ataxia 29, congenital nonprogressive", "OMIM:117360": "Spinocerebellar ataxia type 29/Spinocerebellar ataxia 29, congenital nonprogressive", "ORPHA:2086": "Optic pathway glioma", "ORPHA:2088": "Fanconi-Bickel syndrome/Fanconi-Bickel syndrome", "OMIM:227810": "Fanconi-Bickel syndrome/Fanconi-Bickel syndrome", "ORPHA:2089": "Glycogen storage disease due to hepatic glycogen synthase deficiency/Glycogen storage disease 0, liver", "OMIM:240600": "Glycogen storage disease due to hepatic glycogen synthase deficiency/Glycogen storage disease 0, liver", "CCRD:77": "多系统萎缩/Multiple system atrophy; MSA/Multiple system atrophy/Multiple system atrophy 1, susceptibility to", "ORPHA:102": "多系统萎缩/Multiple system atrophy; MSA/Multiple system atrophy/Multiple system atrophy 1, susceptibility to", "OMIM:146500": "多系统萎缩/Multiple system atrophy; MSA/Multiple system atrophy/Multiple system atrophy 1, susceptibility to", "ORPHA:208981": "Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies", "ORPHA:2090": "GMS syndrome", "ORPHA:209004": "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy", "ORPHA:1020": "Early-onset autosomal dominant Alzheimer disease", "ORPHA:2091": "Multinodular goiter-cystic kidney-polydactyly syndrome", "ORPHA:2092": "Focal dermal hypoplasia/Focal dermal hypoplasia", "OMIM:305600": "Focal dermal hypoplasia/Focal dermal hypoplasia", "OMIM:182980": "Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included", "OMIM:158600": "Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant", "OMIM:300673": "Encephalopathy, neonatal severe, due to mecp2 mutations", "ORPHA:2095": "Gorlin-Chaudhry-Moss syndrome, Progeroid syndrome, Petty type/Fontaine progeroid syndrome", " ORPHA:2963": "Gorlin-Chaudhry-Moss syndrome, Progeroid syndrome, Petty type/Fontaine progeroid syndrome", "OMIM:612289": "Gorlin-Chaudhry-Moss syndrome, Progeroid syndrome, Petty type/Fontaine progeroid syndrome", "ORPHA:2097": "Grant syndrome/Grant syndrome", "OMIM:138930": "Grant syndrome/Grant syndrome", "ORPHA:2098": "Acromesomelic dysplasia, Grebe type/Acromesomelic dysplasia 2A", "OMIM:200700": "Acromesomelic dysplasia, Grebe type/Acromesomelic dysplasia 2A", "ORPHA:209902": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "ORPHA:209905": "Brain-lung-thyroid syndrome/Choreoathetosis, hypothyroidism, and neonatal respiratory distress", "OMIM:610978": "Brain-lung-thyroid syndrome/Choreoathetosis, hypothyroidism, and neonatal respiratory distress", "ORPHA:209908": "Isolated childhood apraxia of speech/Speech-language disorder-1", "OMIM:602081": "Isolated childhood apraxia of speech/Speech-language disorder-1", "OMIM:612237": "Chondrosarcoma, extraskeletal myxoid", "OMIM:610356": "Retinal cone dystrophy 3B", "ORPHA:209943": "IRVAN syndrome", "ORPHA:209951": "Autosomal recessive spastic paraplegia type 18/Spastic paraplegia 18, autosomal recessive", "OMIM:611225": "Autosomal recessive spastic paraplegia type 18/Spastic paraplegia 18, autosomal recessive", "ORPHA:209956": "Idiopathic uveal effusion syndrome", "ORPHA:209967": "Episodic ataxia type 6/Episodic ataxia, type 6", "OMIM:612656": "Episodic ataxia type 6/Episodic ataxia, type 6", "ORPHA:209970": "Episodic ataxia type 7/Episodic ataxia, type 7", "OMIM:611907": "Episodic ataxia type 7/Episodic ataxia, type 7", "ORPHA:209981": "IRIDA syndrome/Iron-Refractory iron deficiency anemia", "OMIM:206200": "IRIDA syndrome/Iron-Refractory iron deficiency anemia", "ORPHA:2101": "Grubben-de Cock-Borghgraef syndrome", "ORPHA:210110": "Intermediate osteopetrosis/Osteopetrosis, autosomal recessive 6", "OMIM:611497": "Intermediate osteopetrosis/Osteopetrosis, autosomal recessive 6", "OMIM:612852": "Interleukin 1 receptor antagonist deficiency", "ORPHA:210122": "Congenital alveolar capillary dysplasia/Alveolar capillary dysplasia with misalignment of pulmonary veins", "OMIM:265380": "Congenital alveolar capillary dysplasia/Alveolar capillary dysplasia with misalignment of pulmonary veins", "ORPHA:210128": "Urocanic aciduria/Urocanase deficiency", "OMIM:276880": "Urocanic aciduria/Urocanase deficiency", "ORPHA:210136": "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "OMIM:612938": "Growth retardation, developmental delay, coarse facies, and earlydeath", "OMIM:612540": "Myopathy, congenital, compton-north", "OMIM:233910": "Hyperphenylalaninemia, BH4-deficient, B", "ORPHA:2104": "Dysmorphism-pectus carinatum-joint laxity syndrome", "OMIM:605309": "Macrocephaly/autism syndrome", "ORPHA:210571": "Dystonia 16/Dystonia 16", "OMIM:612067": "Dystonia 16/Dystonia 16", "ORPHA:2107": "Hall-Riggs syndrome/Hall-Riggs mental retardation syndrome", "OMIM:234250": "Hall-Riggs syndrome/Hall-Riggs mental retardation syndrome", "ORPHA:2108": "Hallermann-Streiff syndrome/Hallermann-Streiff syndrome", "OMIM:234100": "Hallermann-Streiff syndrome/Hallermann-Streiff syndrome", "ORPHA:211": "Familial cylindromatosis/Cylindromatosis, familial", "OMIM:132700": "Familial cylindromatosis/Cylindromatosis, familial", "ORPHA:2110": "Hallux varus-preaxial polysyndactyly syndrome/Hallux varus and preaxial polysyndactyly", "OMIM:234280": "Hallux varus-preaxial polysyndactyly syndrome/Hallux varus and preaxial polysyndactyly", "ORPHA:211017": "Spinocerebellar ataxia type 30/Spinocerebellar ataxia 30", "OMIM:613371": "Spinocerebellar ataxia type 30/Spinocerebellar ataxia 30", "ORPHA:211067": "Episodic ataxia type 5/Episodic ataxia, type 5", "OMIM:613855": "Episodic ataxia type 5/Episodic ataxia, type 5", "ORPHA:2111": "Cystic hamartoma of lung and kidney", "ORPHA:2114": "Hip dysplasia, Beukes type/Hip dysplasia, Beukes type", "OMIM:142669": "Hip dysplasia, Beukes type/Hip dysplasia, Beukes type", "ORPHA:2115": "Harrod syndrome", "ORPHA:2116": "Hartnup disease/Hartnup disorder", "OMIM:234500": "Hartnup disease/Hartnup disorder", "ORPHA:2117": "Hartsfield syndrome/Hartsfield syndrome", "OMIM:615465": "Hartsfield syndrome/Hartsfield syndrome", "ORPHA:2118": "Hawkinsinuria/Hawkinsinuria", "OMIM:140350": "Hawkinsinuria/Hawkinsinuria", "ORPHA:2119": "HEC syndrome/Hydrocephalus, endocardial fibroelastosis, and cataracts", "OMIM:600559": "HEC syndrome/Hydrocephalus, endocardial fibroelastosis, and cataracts", "ORPHA:212": "Cystathioninuria/CYSTATHIONINURIA", "OMIM:219500": "Cystathioninuria/CYSTATHIONINURIA", "ORPHA:2123": "Diffuse neonatal hemangiomatosis", "OMIM:140850": "Hemangiomas, cavernous, of face and supraumbilical midline raphe", "ORPHA:2126": "Solitary fibrous tumor/hemangiopericytoma", "ORPHA:2128": "Isolated hemihyperplasia/Hemihyperplasia, isolated", "OMIM:235000": "Isolated hemihyperplasia/Hemihyperplasia, isolated", "ORPHA:213": "Cystinosis", "CCRD:8": "非典型溶血性尿毒症综合征/Hemolytic uremic syndrome/Atypical hemolytic uremic syndrome", "ORPHA:2134": "非典型溶血性尿毒症综合征/Hemolytic uremic syndrome/Atypical hemolytic uremic syndrome", "ORPHA:100": "Ataxia-telangiectasia/Ataxia-telangiectasia", "OMIM:208900": "Ataxia-telangiectasia/Ataxia-telangiectasia", "ORPHA:100024": "Mu-heavy chain disease", "ORPHA:2135": "Hennekam-Beemer syndrome/Cutaneous mastocytosis, conductive hearing loss, and microtia", "OMIM:248910": "Hennekam-Beemer syndrome/Cutaneous mastocytosis, conductive hearing loss, and microtia", "ORPHA:2136": "Hennekam syndrome", "ORPHA:2137": "Autoimmune hepatitis", "ORPHA:2138": "46,XX ovotesticular disorder of sex development", "ORPHA:2139": "Hernández-Aguirre Negrete syndrome", "ORPHA:214": "Cystinuria/Cystinuria", "OMIM:220100": "Cystinuria/Cystinuria", "ORPHA:2140": "Congenital diaphragmatic hernia/Diaphragmatic hernia, congenital", "OMIM:142340": "Congenital diaphragmatic hernia/Diaphragmatic hernia, congenital", "ORPHA:2141": "Diaphragmatic defect-limb deficiency-skull defect syndrome/Diaphragmatic defects, limb deficiencies, and ossification defects of skull", "OMIM:601163": "Diaphragmatic defect-limb deficiency-skull defect syndrome/Diaphragmatic defects, limb deficiencies, and ossification defects of skull", "ORPHA:2143": "Donnai-Barrow syndrome/Donnai-Barrow syndrome", "OMIM:222448": "Donnai-Barrow syndrome/Donnai-Barrow syndrome", "ORPHA:2145": "Craniosynostosis, Herrmann-Opitz type", "ORPHA:2148": "Lissencephaly type 1 due to doublecortin gene mutation/Lissencephaly, X-linked, 1", "OMIM:300067": "Lissencephaly type 1 due to doublecortin gene mutation/Lissencephaly, X-linked, 1", "ORPHA:2149": "Nodular neuronal heterotopia", "ORPHA:215": "Congenital stationary night blindness", "ORPHA:2150": "Hirschsprung disease-type D brachydactyly syndrome/Hirschsprung disease with type D brachydactyly", "OMIM:306980": "Hirschsprung disease-type D brachydactyly syndrome/Hirschsprung disease with type D brachydactyly", "ORPHA:2151": "Hirschsprung disease-ganglioneuroblastoma syndrome", "ORPHA:2152": "Mowat-Wilson syndrome/Mowat-Wilson syndrome", "OMIM:235730": "Mowat-Wilson syndrome/Mowat-Wilson syndrome", "OMIM:235760": "Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures", "ORPHA:2155": "Hirschsprung disease-deafness-polydactyly syndrome/Hirschsprung disease with polydactyly, renal agenesis, and deafness", "OMIM:235740": "Hirschsprung disease-deafness-polydactyly syndrome/Hirschsprung disease with polydactyly, renal agenesis, and deafness", "ORPHA:2157": "Histidinemia/HISTIDINEMIA", "OMIM:235800": "Histidinemia/HISTIDINEMIA", "ORPHA:2158": "Histidinuria-renal tubular defect syndrome/Histidinuria due to A renal tubular defect", "OMIM:235830": "Histidinuria-renal tubular defect syndrome/Histidinuria due to A renal tubular defect", "ORPHA:2162": "Holoprosencephaly/Holoprosencephaly 1", "OMIM:236100": "Holoprosencephaly/Holoprosencephaly 1", "ORPHA:2163": "Holoprosencephaly-craniosynostosis syndrome/Holoprosencephaly, semilobar, with craniosynostosis", "OMIM:601370": "Holoprosencephaly-craniosynostosis syndrome/Holoprosencephaly, semilobar, with craniosynostosis", "ORPHA:2165": "Holoprosencephaly-caudal dysgenesis syndrome", "ORPHA:2166": "Holoprosencephaly-postaxial polydactyly syndrome/Pseudotrisomy 13 syndrome", "OMIM:264480": "Holoprosencephaly-postaxial polydactyly syndrome/Pseudotrisomy 13 syndrome", "ORPHA:1021": "Amaurosis-hypertrichosis syndrome/Amaurosis congenita, cone-rod type, with congenital hypertrichosis", "OMIM:204110": "Amaurosis-hypertrichosis syndrome/Amaurosis congenita, cone-rod type, with congenital hypertrichosis", "ORPHA:216694": "Congenitally corrected transposition of the great arteries", "ORPHA:2167": "Holzgreve syndrome/Holzgreve syndrome", "OMIM:236110": "Holzgreve syndrome/Holzgreve syndrome", "OMIM:166200": "Osteogenesis imperfecta, type I", "OMIM:166210": "Osteogenesis imperfecta, type II", "OMIM:259420": "Osteogenesis imperfecta, type III", "OMIM:166220": "Osteogenesis imperfecta, type IV", "OMIM:610967": "Osteogenesis imperfecta, type V", "ORPHA:216866": "Classic pantothenate kinase-associated neurodegeneration", "ORPHA:216873": "Atypical pantothenate kinase-associated neurodegeneration", "ORPHA:2169": "Methylcobalamin deficiency type cblE/Homocystinuria-megaloblastic anemia, cbl E type", "OMIM:236270": "Methylcobalamin deficiency type cblE/Homocystinuria-megaloblastic anemia, cbl E type", "ORPHA:217": "Isolated Dandy-Walker malformation/Dandy-Walker syndrome", "OMIM:220200": "Isolated Dandy-Walker malformation/Dandy-Walker syndrome", "OMIM:250940": "Homocystinuria-megaloblastic anemia, cblg Complementation type", "ORPHA:217012": "Spinocerebellar ataxia type 31/Spinocerebellar ataxia 31", "OMIM:117210": "Spinocerebellar ataxia type 31/Spinocerebellar ataxia 31", "ORPHA:217017": "Zechi-Ceide syndrome/Zechi-Ceide syndrome", "OMIM:612916": "Zechi-Ceide syndrome/Zechi-Ceide syndrome", "OMIM:612946": "Hadziselimovic syndrome", "OMIM:608340": "Charcot-Marie-Tooth disease, recessive intermediate A", "ORPHA:217059": "Isolated congenital digital clubbing/Digital clubbing, isolated congenital", "OMIM:119900": "Isolated congenital digital clubbing/Digital clubbing, isolated congenital", "ORPHA:100025": "Alpha-heavy chain disease", "ORPHA:2172": "Microcephaly-glomerulonephritis-marfanoid habitus syndrome", "CCRD:9.1": "抗 NMDAR 脑炎/Autoimmune encephalitis with N-methyl-D-aspartate receptor (NMDAR) antibodies/NMDA receptor encephalitis", "ORPHA:217253": "抗 NMDAR 脑炎/Autoimmune encephalitis with N-methyl-D-aspartate receptor (NMDAR) antibodies/NMDA receptor encephalitis", "ORPHA:217266": "BNAR syndrome/Bifid nose with or without anorectal and renal anomalies", "OMIM:608980": "BNAR syndrome/Bifid nose with or without anorectal and renal anomalies", "OMIM:613092": "Tubulointerstitial kidney disease, autosomal dominant, 4", "ORPHA:217335": "RIN2 syndrome/Macrocephaly, alopecia, cutis laxa, and scoliosis", "OMIM:613075": "RIN2 syndrome/Macrocephaly, alopecia, cutis laxa, and scoliosis", "ORPHA:217340": "17q21.31 microduplication syndrome", "ORPHA:217346": "19q13.11 microdeletion syndrome/Chromosome 19q13.11 deletion syndrome, distal", "OMIM:613026": "19q13.11 microdeletion syndrome/Chromosome 19q13.11 deletion syndrome, distal", "OMIM:613070": "Liver failure, infantile, transient", "ORPHA:217377": "Microduplication Xp11.22p11.23 syndrome/Chromosome xp11.23-p11.22 duplication syndrome", "OMIM:300801": "Microduplication Xp11.22p11.23 syndrome/Chromosome xp11.23-p11.22 duplication syndrome", "OMIM:613068": "Neurodegeneration due to cerebral folate transport deficiency", "ORPHA:217385": "17p13.3 microduplication syndrome", "ORPHA:217390": "Combined immunodeficiency due to DOCK8 deficiency/Hyper-Ige recurrent infection syndrome, autosomal recessive", "OMIM:243700": "Combined immunodeficiency due to DOCK8 deficiency/Hyper-Ige recurrent infection syndrome, autosomal recessive", "OMIM:613710": "Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)", "OMIM:613102": "Hypotrichosis and recurrent skin vesicles", "OMIM:145701": "Hypertrichosis universalis congenita, Ambras type", "OMIM:613116": "Thrombophilia due to histidine-rich glycoprotein deficiency", "ORPHA:217563": "Neonatal acute respiratory distress due to SP-B deficiency/Surfactant metabolism dysfunction, pulmonary, 1", "OMIM:265120": "Neonatal acute respiratory distress due to SP-B deficiency/Surfactant metabolism dysfunction, pulmonary, 1", "ORPHA:2176": "Infantile systemic hyalinosis", "CCRD:52.1": "家族性/特发性扩张型心肌病/Familial/Idiopathic dilated cardiomyopathy/Familial dilated cardiomyopathy", "ORPHA:217607": "家族性/特发性扩张型心肌病/Familial/Idiopathic dilated cardiomyopathy/Familial dilated cardiomyopathy", "ORPHA:217622": "Sensorineural deafness with dilated cardiomyopathy/Cardiomyopathy, dilated, 1J", "OMIM:605362": "Sensorineural deafness with dilated cardiomyopathy/Cardiomyopathy, dilated, 1J", "CCRD:52.3": "家族性/特发性限制型心肌病/Familial/Idiopathic restrictive cardiomyopathy", "OMIM:107970": "Arrhythmogenic right ventricular dysplasia, familial, 1", "ORPHA:2177": "Hydranencephaly", "ORPHA:218": "Darier disease/Darier-White disease", "OMIM:124200": "Darier disease/Darier-White disease", "ORPHA:2180": "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome", "ORPHA:2181": "Hydrocephaly-tall stature-joint laxity syndrome/Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis", "OMIM:236660": "Hydrocephaly-tall stature-joint laxity syndrome/Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis", "ORPHA:2182": "Hydrocephalus with stenosis of the aqueduct of Sylvius/Hydrocephalus due to congenital stenosis of aqueduct of sylvius", "OMIM:307000": "Hydrocephalus with stenosis of the aqueduct of Sylvius/Hydrocephalus due to congenital stenosis of aqueduct of sylvius", "ORPHA:2183": "Hydrocephalus-obesity-hypogonadism syndrome", "ORPHA:2184": "Hydrocephaly-low insertion umbilicus syndrome", "ORPHA:2185": "Congenital hydrocephalus", "ORPHA:2189": "Hydrolethalus", "ORPHA:219": "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6/Muscular dystrophy, limb-girdle, type 2F", "OMIM:601287": "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6/Muscular dystrophy, limb-girdle, type 2F", "OMIM:222730": "Dicarboxylicamino aciduria", "ORPHA:2196": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement/Hypomagnesemia 5, renal, with or without ocular involvement", "OMIM:248190": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement/Hypomagnesemia 5, renal, with or without ocular involvement", "ORPHA:2197": "Idiopathic hypercalciuria", "ORPHA:2198": "Palmoplantar keratoderma-esophageal carcinoma syndrome/Tylosis with esophageal cancer", "OMIM:148500": "Palmoplantar keratoderma-esophageal carcinoma syndrome/Tylosis with esophageal cancer", "ORPHA:2199": "Epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, epidermolytic", "OMIM:144200": "Epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, epidermolytic", "ORPHA:22": "Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency", "OMIM:271980": "Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency", "ORPHA:220": "Denys-Drash syndrome/Denys-Drash syndrome", "OMIM:194080": "Denys-Drash syndrome/Denys-Drash syndrome", "ORPHA:2200": "Focal palmoplantar and gingival keratoderma/Keratosis, focal palmoplantar and gingival", "OMIM:148730": "Focal palmoplantar and gingival keratoderma/Keratosis, focal palmoplantar and gingival", "ORPHA:1027": "Autosomal recessive amelia/Amelia, autosomal recessive", "OMIM:601360": "Autosomal recessive amelia/Amelia, autosomal recessive", "ORPHA:2201": "Palmoplantar keratoderma-spastic paralysis syndrome", "ORPHA:2202": "Palmoplantar keratoderma-deafness syndrome/Keratoderma, palmoplantar, with deafness", "OMIM:148350": "Palmoplantar keratoderma-deafness syndrome/Keratoderma, palmoplantar, with deafness", "ORPHA:220295": "Xeroderma pigmentosum-Cockayne syndrome complex", "ORPHA:2203": "Hyperlysinemia/Hyperlysinemia, type I", "OMIM:238700": "Hyperlysinemia/Hyperlysinemia, type I", "ORPHA:220393": "Diffuse cutaneous systemic sclerosis", "ORPHA:2204": "Dysplastic cortical hyperostosis", "ORPHA:220402": "Limited cutaneous systemic sclerosis", "OMIM:601709": "Quebec platelet disorder", "OMIM:614009": "Bleeding disorder, platelet-type, 13, susceptibility to", "ORPHA:220460": "Attenuated familial adenomatous polyposis", "OMIM:245590": "Growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "ORPHA:220493": "Joubert syndrome with ocular defect", "ORPHA:220497": "Joubert syndrome with renal defect/Joubert syndrome 4", "OMIM:609583": "Joubert syndrome with renal defect/Joubert syndrome 4", "ORPHA:2206": "Ankylosing vertebral hyperostosis with tylosis/Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included", "OMIM:106400": "Ankylosing vertebral hyperostosis with tylosis/Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included", "ORPHA:1028": "Amelo-onycho-hypohidrotic syndrome/Ameloonychohypohidrotic syndrome", "OMIM:104570": "Amelo-onycho-hypohidrotic syndrome/Ameloonychohypohidrotic syndrome", "ORPHA:2209": "Maternal phenylketonuria", "ORPHA:221": "Dermatomyositis", "ORPHA:221008": "Rothmund-Thomson syndrome type 1", "ORPHA:221016": "Rothmund-Thomson syndrome type 2", "OMIM:173700": "Poikiloderma, hereditary sclerosing", "OMIM:615704": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis", "OMIM:604173": "Poikiloderma with neutropenia", "ORPHA:221054": "Acrocephalopolydactyly/Acrocephalopolydactylous dysplasia", "OMIM:200995": "Acrocephalopolydactyly/Acrocephalopolydactylous dysplasia", "ORPHA:221061": "Familial cerebral cavernous malformation/Cerebral cavernous malformations 1", "OMIM:116860": "Familial cerebral cavernous malformation/Cerebral cavernous malformations 1", "ORPHA:100026": "Gamma-heavy chain disease", "ORPHA:1031": "Enamel-renal syndrome/Amelogenesis imperfecta, type IG (enamel-renal syndrome)", "OMIM:204690": "Enamel-renal syndrome/Amelogenesis imperfecta, type IG (enamel-renal syndrome)", "OMIM:141405": "Hemifacial spasm, familial", "ORPHA:221091": "Trigeminal neuralgia/Trigeminal neuralgia", "OMIM:190400": "Trigeminal neuralgia/Trigeminal neuralgia", "ORPHA:2211": "Hypertelorism-hypospadias-polysyndactyly syndrome/Acrofrontofacionasal dysostosis 2", "OMIM:239710": "Hypertelorism-hypospadias-polysyndactyly syndrome/Acrofrontofacionasal dysostosis 2", "ORPHA:221120": "Pseudoaminopterin syndrome/Aminopterin syndrome sine aminopterin", "OMIM:600325": "Pseudoaminopterin syndrome/Aminopterin syndrome sine aminopterin", "OMIM:222690": "Dibasic amino aciduria I", "OMIM:225790": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", "ORPHA:221139": "Combined immunodeficiency with faciooculoskeletal anomalies/Roifman-Chitayat syndrome", "OMIM:613328": "Combined immunodeficiency with faciooculoskeletal anomalies/Roifman-Chitayat syndrome", "OMIM:613177": "Cutis laxa, autosomal recessive, type IC", "ORPHA:2213": "Hypertelorism-microtia-facial clefting syndrome/Hypertelorism, microtia, facial clefting syndrome", "OMIM:239800": "Hypertelorism-microtia-facial clefting syndrome/Hypertelorism, microtia, facial clefting syndrome", "ORPHA:2215": "Multiple pterygium-malignant hyperthermia syndrome/Contractures, congenital, torticollis, and malignant hyperthermia", "OMIM:217150": "Multiple pterygium-malignant hyperthermia syndrome/Contractures, congenital, torticollis, and malignant hyperthermia", "ORPHA:2216": "Maternal hyperthermia-induced birth defects", "ORPHA:2218": "Cervical hypertrichosis-peripheral neuropathy syndrome/Hypertrichosis, congenital anterior cervical, with peripheral sensory", "OMIM:239840": "Cervical hypertrichosis-peripheral neuropathy syndrome/Hypertrichosis, congenital anterior cervical, with peripheral sensory", "ORPHA:222": "Erosive pustular dermatosis of the scalp", "ORPHA:1035": "Beta-mercaptolactate cysteine disulfiduria/Mercaptolactate-Cysteine disulfiduria", "OMIM:249650": "Beta-mercaptolactate cysteine disulfiduria/Mercaptolactate-Cysteine disulfiduria", "ORPHA:2220": "Hypertrichosis cubiti/Hairy elbows", "OMIM:139600": "Hypertrichosis cubiti/Hairy elbows", "ORPHA:2221": "Acquired hypertrichosis lanuginosa", "ORPHA:2222": "Hypertrichosis lanuginosa congenita", "OMIM:600627": "Hypertryptophanemia", "ORPHA:2228": "Hypodontia-dysplasia of nails syndrome/Witkop syndrome", "OMIM:189500": "Hypodontia-dysplasia of nails syndrome/Witkop syndrome", "ORPHA:2229": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome/Malouf syndrome", "OMIM:212112": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome/Malouf syndrome", "ORPHA:223": "Nephrogenic diabetes insipidus", "ORPHA:2232": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome/Hypogonadism, primary, and partial alopecia", "OMIM:241090": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome/Hypogonadism, primary, and partial alopecia", "ORPHA:2233": "Hypogonadism-mitral valve prolapse-intellectual disability syndrome", "ORPHA:2234": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome/Hypogonadism, male, with mental retardation and skeletal anomalies", "OMIM:307500": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome/Hypogonadism, male, with mental retardation and skeletal anomalies", "ORPHA:2235": "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "ORPHA:2237": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome/Hypoparathyroidism, sensorineural deafness, and renal dysplasia", "OMIM:146255": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome/Hypoparathyroidism, sensorineural deafness, and renal dysplasia", "ORPHA:2238": "Familial isolated hypoparathyroidism", "ORPHA:2239": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland/Hypoparathyroidism, X-linked", "OMIM:307700": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland/Hypoparathyroidism, X-linked", "CCRD:80": "新生儿糖尿病/Neonatal diabetes mellitus; NDM", "ORPHA:2241": "Megacystis-microcolon-intestinal hypoperistalsis syndrome/Megacystis-microcolon-intestinal hypoperistalsis syndrome 1", "OMIM:249210": "Megacystis-microcolon-intestinal hypoperistalsis syndrome/Megacystis-microcolon-intestinal hypoperistalsis syndrome 1", "ORPHA:2246": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome", "ORPHA:2248": "Hypoplastic left heart syndrome/Hypoplastic left heart syndrome", "OMIM:241550": "Hypoplastic left heart syndrome/Hypoplastic left heart syndrome", "ORPHA:2249": "Ulna hypoplasia-intellectual disability syndrome/Ulnar hypoplasia with mental retardation", "OMIM:276821": "Ulna hypoplasia-intellectual disability syndrome/Ulnar hypoplasia with mental retardation", "ORPHA:225": "Maternally-inherited diabetes and deafness/Diabetes and deafness, maternally inherited", "OMIM:520000": "Maternally-inherited diabetes and deafness/Diabetes and deafness, maternally inherited", "ORPHA:2250": "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome", "ORPHA:2251": "Thumb deformity-alopecia-pigmentation anomaly syndrome/Thumb deformity and alopecia", "OMIM:188150": "Thumb deformity-alopecia-pigmentation anomaly syndrome/Thumb deformity and alopecia", "OMIM:604250": "Hemochromatosis, type 3", "ORPHA:225147": "Sporadic infantile bilateral striatal necrosis", "ORPHA:225154": "Familial infantile bilateral striatal necrosis/Striatonigral degeneration, infantile", "OMIM:271930": "Familial infantile bilateral striatal necrosis/Striatonigral degeneration, infantile", "ORPHA:2252": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome/Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema", "OMIM:179250": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome/Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema", "ORPHA:2253": "Foveal hypoplasia-presenile cataract syndrome", "ORPHA:2255": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome/Pancreatic agenesis and congenital heart defects", "OMIM:600001": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome/Pancreatic agenesis and congenital heart defects", "ORPHA:2256": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "ORPHA:103909": "Trehalase deficiency/Trehalase deficiency", "OMIM:612119": "Trehalase deficiency/Trehalase deficiency", "ORPHA:2257": "Primary pulmonary hypoplasia/Pulmonary hypoplasia, primary", "OMIM:265430": "Primary pulmonary hypoplasia/Pulmonary hypoplasia, primary", "ORPHA:226": "Dihydropteridine reductase deficiency/Hyperphenylalaninemia, bh4-deficient, C", "OMIM:261630": "Dihydropteridine reductase deficiency/Hyperphenylalaninemia, bh4-deficient, C", "ORPHA:2261": "Hypospadias-intellectual disability, Goldblatt type syndrome", "ORPHA:226292": "Permanent congenital hypothyroidism", "ORPHA:103910": "Congenital enterocyte heparan sulfate deficiency", "ORPHA:226307": "Hypothyroidism due to deficient transcription factors involved in pituitary development or function", "ORPHA:226313": "Congenital hypothyroidism due to maternal intake of antithyroid drugs", "ORPHA:226316": "Genetic transient congenital hypothyroidism", "ORPHA:2266": "Hypotrichosis-intellectual disability, Lopes type", "ORPHA:2268": "ICF syndrome", "ORPHA:2269": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome/Ichthyosis with alopecia, eclabion, ectropion, and mental retardation", "OMIM:242510": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome/Ichthyosis with alopecia, eclabion, ectropion, and mental retardation", "ORPHA:227": "Diphallia", "ORPHA:103918": "Tropical pancreatitis/Tropical calcific pancreatitis", "OMIM:608189": "Tropical pancreatitis/Tropical calcific pancreatitis", "ORPHA:2271": "Congenital ichthyosis-microcephalus-tetraplegia syndrome", "ORPHA:2273": "Ichthyosis follicularis-alopecia-photophobia syndrome/IFAP syndrome with or without BRESHECK syndrome", "OMIM:308205": "Ichthyosis follicularis-alopecia-photophobia syndrome/IFAP syndrome with or without BRESHECK syndrome", "ORPHA:2274": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome/Ichthyosis, hepatosplenomegaly, and cerebellar degeneration", "OMIM:242520": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome/Ichthyosis, hepatosplenomegaly, and cerebellar degeneration", "ORPHA:227510": "Multiple system atrophy, cerebellar type", "OMIM:136880": "Fundus albipunctatus", "ORPHA:2278": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome/Ichthyosis, mental retardation, dwarfism, and renal impairment", "OMIM:242530": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome/Ichthyosis, mental retardation, dwarfism, and renal impairment", "OMIM:612989": "Optic atrophy 7 with or without auditory neuropathy", "ORPHA:227982": "Autoimmune polyendocrinopathy type 3", "ORPHA:227990": "Autoimmune polyendocrinopathy type 4", "OMIM:615518": "Immunodeficiency 13", "OMIM:615401": "Immunodeficiency 8", "ORPHA:228116": "Hughes-Stovin syndrome", "OMIM:603829": "Ventricular fibrillation, familial, 1", "CCRD:76": "多发性硬化/Multiple sclerosis; MS", "ORPHA:228169": "Autosomal dominant striatal neurodegeneration/Striatal degeneration, autosomal dominant", "OMIM:609161": "Autosomal dominant striatal neurodegeneration/Striatal degeneration, autosomal dominant", "OMIM:613287": "Charcot-Marie-Tooth disease, axonal, type 2N", "ORPHA:228190": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome/Patent ductus arteriosus and bicuspid aortic valve with hand anomalies", "OMIM:604381": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome/Patent ductus arteriosus and bicuspid aortic valve with hand anomalies", "ORPHA:2282": "Dysmorphism-short stature-deafness-disorder of sex development syndrome", "CCRD:62": "Leber 遗传性视神经病变/Leber hereditary optic neuropathy; LHON/Leber hereditary optic neuropathy/Leber optic atrophy", "ORPHA:104": "Leber 遗传性视神经病变/Leber hereditary optic neuropathy; LHON/Leber hereditary optic neuropathy/Leber optic atrophy", "OMIM:535000": "Leber 遗传性视神经病变/Leber hereditary optic neuropathy; LHON/Leber hereditary optic neuropathy/Leber optic atrophy", "ORPHA:228240": "Elastoderma", "ORPHA:1040": "Metaphyseal anadysplasia", "ORPHA:228277": "Familial anetoderma", "ORPHA:228302": "Carnitine palmitoyl transferase II deficiency, myopathic form/Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced", "OMIM:255110": "Carnitine palmitoyl transferase II deficiency, myopathic form/Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced", "ORPHA:228305": "Carnitine palmitoyl transferase II deficiency, severe infantile form/Carnitine palmitoyltransferase II deficiency, infantile", "OMIM:600649": "Carnitine palmitoyl transferase II deficiency, severe infantile form/Carnitine palmitoyltransferase II deficiency, infantile", "ORPHA:228308": "Carnitine palmitoyl transferase II deficiency, neonatal form/Carnitine palmitoyltransferase II deficiency, lethal neonatal", "OMIM:608836": "Carnitine palmitoyl transferase II deficiency, neonatal form/Carnitine palmitoyltransferase II deficiency, lethal neonatal", "ORPHA:228312": "Autoimmune hemolytic anemia, cold type", "OMIM:256730": "Ceroid lipofuscinosis, neuronal, 1", "OMIM:610127": "Ceroid lipofuscinosis, neuronal, 10", "OMIM:204300": "Ceroid lipofuscinosis, neuronal, 6B (Kufs type)", "OMIM:162350": "Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant", "ORPHA:228346": "CLN3 disease/Ceroid lipofuscinosis, neuronal, 3", "OMIM:204200": "CLN3 disease/Ceroid lipofuscinosis, neuronal, 3", "OMIM:204500": "Ceroid lipofuscinosis, neuronal, 2", "OMIM:600143": "Ceroid lipofuscinosis, neuronal, 8", "OMIM:609055": "Ceroid lipofuscinosis, neuronal, 9", "ORPHA:228360": "CLN5 disease/Ceroid lipofuscinosis, neuronal, 5", "OMIM:256731": "CLN5 disease/Ceroid lipofuscinosis, neuronal, 5", "OMIM:601780": "Ceroid lipofuscinosis, neuronal, 6", "OMIM:610951": "Ceroid lipofuscinosis, neuronal, 7", "ORPHA:228371": "Foodborne botulism", "ORPHA:228384": "5q14.3 microdeletion syndrome", "OMIM:613330": "Spondylo-megaepiphyseal-metaphyseal dysplasia", "ORPHA:228390": "Frontonasal dysplasia-alopecia-genital anomalies syndrome/Frontonasal dysplasia 2", "OMIM:613451": "Frontonasal dysplasia-alopecia-genital anomalies syndrome/Frontonasal dysplasia 2", "ORPHA:228396": "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "ORPHA:228399": "8q12 microduplication syndrome", "ORPHA:228402": "2q23.1 microdeletion syndrome", "ORPHA:228410": "Polyvalvular heart disease syndrome", "ORPHA:228415": "5q35 microduplication syndrome", "OMIM:614172": "Immunodeficiency 21", "ORPHA:228426": "Syndromic multisystem autoimmune disease due to Itch deficiency/Autoimmune disease, multisystem, with facial dysmorphism", "OMIM:613385": "Syndromic multisystem autoimmune disease due to Itch deficiency/Autoimmune disease, multisystem, with facial dysmorphism", "ORPHA:2285": "Primary basilar invagination/Basilar impression, primary", "OMIM:109500": "Primary basilar invagination/Basilar impression, primary", "ORPHA:2287": "Fused mandibular incisors/Incisors, fused mandibular", "OMIM:147251": "Fused mandibular incisors/Incisors, fused mandibular", "ORPHA:2289": "Neuronal intranuclear inclusion disease/Neuronal intranuclear inclusion disease", "OMIM:603472": "Neuronal intranuclear inclusion disease/Neuronal intranuclear inclusion disease", "ORPHA:229": "Familial aortic dissection", "ORPHA:2290": "Microvillus inclusion disease/Diarrhea 2, with microvillous atrophy", "OMIM:251850": "Microvillus inclusion disease/Diarrhea 2, with microvillous atrophy", "ORPHA:2291": "Congenital velopharyngeal incompetence/Palatopharyngeal incompetence", "OMIM:167500": "Congenital velopharyngeal incompetence/Palatopharyngeal incompetence", "ORPHA:2292": "Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome", "ORPHA:2295": "Familial articular hypermobility syndrome/Joint laxity, familial", "OMIM:147900": "Familial articular hypermobility syndrome/Joint laxity, familial", "ORPHA:2297": "Insulin-resistance syndrome type A", "ORPHA:229717": "Isolated agammaglobulinemia", "CCRD:11": "自身免疫性胰岛素受体病/Autoimmune insulin receptopathy; AIR; Type B insulin resistance; TBIR/Insulin-resistance syndrome type B", "ORPHA:2298": "自身免疫性胰岛素受体病/Autoimmune insulin receptopathy; AIR; Type B insulin resistance; TBIR/Insulin-resistance syndrome type B", "ORPHA:23": "Argininosuccinic aciduria/Argininosuccinic aciduria", "OMIM:207900": "Argininosuccinic aciduria/Argininosuccinic aciduria", "ORPHA:230": "Dopamine beta-hydroxylase deficiency/Orthostatic hypotension 1, due to DBH deficiency", "OMIM:223360": "Dopamine beta-hydroxylase deficiency/Orthostatic hypotension 1, due to DBH deficiency", "ORPHA:2300": "Multiple intestinal atresia", "ORPHA:2301": "Congenital short bowel syndrome/Congenital short bowel syndrome", "OMIM:615237": "Congenital short bowel syndrome/Congenital short bowel syndrome", "ORPHA:2305": "Isotretinoin syndrome", "ORPHA:2306": "Isotretinoin-like syndrome/Isotretinoin embryopathy-like syndrome", "OMIM:243440": "Isotretinoin-like syndrome/Isotretinoin embryopathy-like syndrome", "ORPHA:2307": "IVIC syndrome/IVIC syndrome", "OMIM:147750": "IVIC syndrome/IVIC syndrome", "ORPHA:2308": "Jacobsen syndrome/Jacobsen syndrome", "OMIM:147791": "Jacobsen syndrome/Jacobsen syndrome", "ORPHA:230800": "Toxin-mediated infectious botulism", "ORPHA:230839": "Classical-like Ehlers-Danlos syndrome type 1/Ehlers-Danlos syndrome, classic-like", "OMIM:606408": "Classical-like Ehlers-Danlos syndrome type 1/Ehlers-Danlos syndrome, classic-like", "ORPHA:230851": "Cardiac-valvular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form", "OMIM:225320": "Cardiac-valvular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form", "ORPHA:2309": "Pachyonychia congenita", "ORPHA:231": "Dracunculiasis", "ORPHA:2310": "Absence deformity of leg-cataract syndrome/Leg, absence deformity of, with congenital cataract", "OMIM:246000": "Absence deformity of leg-cataract syndrome/Leg, absence deformity of, with congenital cataract", "OMIM:133000": "Erythema palmare hereditarium", "OMIM:151001": "Lentiginosis, inherited patterned", "ORPHA:2311": "Autosomal recessive spondylocostal dysostosis", "ORPHA:231111": "Drug-induced lupus erythematosus", "ORPHA:231154": "Combined immunodeficiency due to partial RAG1 deficiency", "ORPHA:231160": "Familial cerebral saccular aneurysm/Aneurysm, intracranial berry, 1", "OMIM:105800": "Familial cerebral saccular aneurysm/Aneurysm, intracranial berry, 1", "OMIM:130900": "Amelogenesis imperfecta, type III", "ORPHA:231169": "Usher syndrome type 1", "ORPHA:231178": "Usher syndrome type 2", "ORPHA:231183": "Usher syndrome type 3", "OMIM:237900": "Hyperbilirubinemia, familial transient neonatal", "ORPHA:231214": "Beta-thalassemia major", "ORPHA:231222": "Beta-thalassemia intermedia", "ORPHA:231226": "Dominant beta-thalassemia/Thalassemia-beta, dominant inclusion-body", "OMIM:603902": "Dominant beta-thalassemia/Thalassemia-beta, dominant inclusion-body", "ORPHA:231237": "Delta-beta-thalassemia", "ORPHA:231242": "Hemoglobin C-beta-thalassemia syndrome", "ORPHA:231249": "Hemoglobin E-beta-thalassemia syndrome", "ORPHA:231393": "Beta-thalassemia-X-linked thrombocytopenia syndrome/Thrombocytopenia with beta-thalassemia, X-linked", "OMIM:314050": "Beta-thalassemia-X-linked thrombocytopenia syndrome/Thrombocytopenia with beta-thalassemia, X-linked", "ORPHA:2314": "Autosomal dominant hyper-IgE syndrome/Hyper-IgE recurrent infection syndrome", "OMIM:147060": "Autosomal dominant hyper-IgE syndrome/Hyper-IgE recurrent infection syndrome", "ORPHA:231401": "Alpha-thalassemia-myelodysplastic syndrome/Alpha-Thalassemia myelodysplasia syndrome", "OMIM:300448": "Alpha-thalassemia-myelodysplastic syndrome/Alpha-Thalassemia myelodysplasia syndrome", "ORPHA:231445": "Paraparetic variant of Guillain-Barré syndrome", "ORPHA:2315": "Johanson-Blizzard syndrome/Johanson-Blizzard syndrome", "OMIM:243800": "Johanson-Blizzard syndrome/Johanson-Blizzard syndrome", "OMIM:614076": "Hermansky-Pudlak syndrome 7", "OMIM:614077": "Hermansky-Pudlak syndrome 8", "ORPHA:231568": "Autosomal dominant generalized dystrophic epidermolysis bullosa/Epidermolysis bullosa dystrophica, autosomal dominant", "OMIM:131750": "Autosomal dominant generalized dystrophic epidermolysis bullosa/Epidermolysis bullosa dystrophica, autosomal dominant", "ORPHA:231580": "Primary unilateral adrenal hyperplasia", "ORPHA:2316": "Johnson neuroectodermal syndrome", "ORPHA:231625": "Adrenocortical carcinoma with pure aldosterone hypersecretion", "ORPHA:231632": "Ectopic aldosterone-producing tumor", "OMIM:262400": "Growth hormone deficiency, isolated, type IA", "OMIM:612781": "Growth hormone deficiency, isolated, type IB, Growth hormone deficiency, isolated, type IV", " OMIM:618157": "Growth hormone deficiency, isolated, type IB, Growth hormone deficiency, isolated, type IV", "OMIM:173100": "Isolated growth hormone deficiency, type II", "ORPHA:231720": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome/Deafness, sensorineural, with pituitary dwarfism", "OMIM:221750": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome/Deafness, sensorineural, with pituitary dwarfism", "ORPHA:231736": "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "ORPHA:2318": "Joubert syndrome with oculorenal defect/Arima syndrome", "OMIM:243910": "Joubert syndrome with oculorenal defect/Arima syndrome", "ORPHA:2319": "Juberg-Hayward syndrome/Cleft lip/palate with abnormal thumbs and microcephaly", "OMIM:216100": "Juberg-Hayward syndrome/Cleft lip/palate with abnormal thumbs and microcephaly", "CCRD:106": "镰刀型细胞贫血病/Sickle cell disease; SCD/Sickle cell anemia/Sickle cell anemia", "ORPHA:232": "镰刀型细胞贫血病/Sickle cell disease; SCD/Sickle cell anemia/Sickle cell anemia", "OMIM:603903": "镰刀型细胞贫血病/Sickle cell disease; SCD/Sickle cell anemia/Sickle cell anemia", "ORPHA:2321": "Jung syndrome/Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "OMIM:601427": "Jung syndrome/Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "ORPHA:2322": "Kabuki syndrome/Kabuki syndrome 1", "OMIM:147920": "Kabuki syndrome/Kabuki syndrome 1", "ORPHA:2323": "Sanjad-Sakati syndrome/Hypoparathyroidism-retardation-dysmorphism syndrome", "OMIM:241410": "Sanjad-Sakati syndrome/Hypoparathyroidism-retardation-dysmorphism syndrome", "ORPHA:2324": "Osteopenia-intellectual disability-sparse hair syndrome/Osteopenia and sparse hair", "OMIM:259690": "Osteopenia-intellectual disability-sparse hair syndrome/Osteopenia and sparse hair", "ORPHA:2325": "Epidermolysis bullosa simplex with anodontia/hypodontia", "ORPHA:2326": "Kallmann syndrome-heart disease syndrome", "ORPHA:2328": "Kapur-Toriello syndrome/Kapur-Toriello syndrome", "OMIM:244300": "Kapur-Toriello syndrome/Kapur-Toriello syndrome", "OMIM:183800": "Split-Hand with congenital nystagmus, fundal changes, and cataracts", "ORPHA:233": "Duane retraction syndrome/Duane retraction syndrome 1", "OMIM:126800": "Duane retraction syndrome/Duane retraction syndrome 1", "ORPHA:2330": "Kasabach-Merritt syndrome/Hemangioma-Thrombocytopenia syndrome", "OMIM:141000": "Kasabach-Merritt syndrome/Hemangioma-Thrombocytopenia syndrome", "ORPHA:2331": "Kawasaki disease", "ORPHA:2332": "KBG syndrome/KBG syndrome", "OMIM:148050": "KBG syndrome/KBG syndrome", "ORPHA:2334": "Autosomal dominant keratitis/Keratitis, hereditary", "OMIM:148190": "Autosomal dominant keratitis/Keratitis, hereditary", "ORPHA:2337": "Non-epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, Bothnian type", "OMIM:600231": "Non-epidermolytic palmoplantar keratoderma/Palmoplantar keratoderma, Bothnian type", "ORPHA:2339": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome/Keratosis follicularis, dwarfism, and cerebral atrophy", "OMIM:308830": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome/Keratosis follicularis, dwarfism, and cerebral atrophy", "ORPHA:234": "Dubin-Johnson syndrome/DUBIN-JOHNSON syndrome", "OMIM:237500": "Dubin-Johnson syndrome/DUBIN-JOHNSON syndrome", "OMIM:245010": "Haim-Munk syndrome", "OMIM:148800": "Kleeblattschaedel syndrome", "ORPHA:2345": "Isolated Klippel-Feil syndrome", "ORPHA:2346": "Angioosteohypertrophic syndrome/Klippel-Trenaunay-Weber syndrome", "OMIM:149000": "Angioosteohypertrophic syndrome/Klippel-Trenaunay-Weber syndrome", "ORPHA:2347": "Lethal Kniest-like dysplasia", "ORPHA:2348": "Familial partial lipodystrophy, Dunnigan type/Lipodystrophy, familial partial, type 2", "OMIM:151660": "Familial partial lipodystrophy, Dunnigan type/Lipodystrophy, familial partial, type 2", "ORPHA:2349": "Muscular pseudohypertrophy-hypothyroidism syndrome", "ORPHA:235": "Dubowitz syndrome/Dubowitz syndrome", "OMIM:223370": "Dubowitz syndrome/Dubowitz syndrome", "OMIM:164220": "Schilbach-Rott syndrome", "ORPHA:2356": "Arachnoid cyst", "ORPHA:236": "Trisomy 9p", "ORPHA:2363": "Lacrimoauriculodentodigital syndrome/Lacrimoauriculodentodigital syndrome-1", "OMIM:149730": "Lacrimoauriculodentodigital syndrome/Lacrimoauriculodentodigital syndrome-1", "ORPHA:2364": "Glycogen storage disease due to lactate dehydrogenase deficiency", "ORPHA:2368": "Gastroschisis/Gastroschisisabdominal wall defects, included", "OMIM:230750": "Gastroschisis/Gastroschisisabdominal wall defects, included", "ORPHA:2370": "Larsen-like osseous dysplasia-short stature syndrome/Larsen-Like syndrome", "OMIM:608545": "Larsen-like osseous dysplasia-short stature syndrome/Larsen-Like syndrome", "ORPHA:1046": "Lethal hemolytic anemia-genital anomalies syndrome", "OMIM:245650": "Larsen-like syndrome, Lethal type", "ORPHA:2373": "Congenital laryngomalacia/LARYNGOMALACIA", "OMIM:150280": "Congenital laryngomalacia/LARYNGOMALACIA", "ORPHA:2374": "Congenital laryngeal web", "ORPHA:2375": "Laryngeal abductor paralysis-intellectual disability syndrome", "ORPHA:2377": "Laurence-Moon syndrome/Laurence-Moon syndrome", "OMIM:245800": "Laurence-Moon syndrome/Laurence-Moon syndrome", "ORPHA:2378": "Laurin-Sandrow syndrome/Laurin-Sandrow syndrome", "OMIM:135750": "Laurin-Sandrow syndrome/Laurin-Sandrow syndrome", "ORPHA:2379": "Early-onset parkinsonism-intellectual disability syndrome/Waisman syndrome", "OMIM:311510": "Early-onset parkinsonism-intellectual disability syndrome/Waisman syndrome", "ORPHA:2380": "Legg-Calvé-Perthes disease/Legg-Calve-Perthes disease", "OMIM:150600": "Legg-Calvé-Perthes disease/Legg-Calve-Perthes disease", "ORPHA:2382": "Lennox-Gastaut syndrome", "ORPHA:238329": "Severe X-linked mitochondrial encephalomyopathy/Combined oxidative phosphorylation deficiency 6", "OMIM:300816": "Severe X-linked mitochondrial encephalomyopathy/Combined oxidative phosphorylation deficiency 6", "ORPHA:238446": "15q11q13 microduplication syndrome", "ORPHA:238455": "Infantile dystonia-parkinsonism/Parkinsonism-Dystonia, infantile, 1", "OMIM:613135": "Infantile dystonia-parkinsonism/Parkinsonism-Dystonia, infantile, 1", "ORPHA:238459": "SLC35A1-CDG/Congenital disorder of glycosylation, type IIf", "OMIM:603585": "SLC35A1-CDG/Congenital disorder of glycosylation, type IIf", "ORPHA:238468": "Hypohidrotic ectodermal dysplasia", "OMIM:607748": "Hypercholanemia, familial", "OMIM:615122": "Lymphoproliferative syndrome 2", "ORPHA:1048": "Isolated anencephaly/exencephaly/Anencephaly", "OMIM:206500": "Isolated anencephaly/exencephaly/Anencephaly", "OMIM:263400": "Erythrocytosis, familial, 2", "ORPHA:238578": "Familial clubfoot due to 17q23.1q23.2 microduplication/Chromosome 17q23.1-q23.2 duplication syndrome", "OMIM:613618": "Familial clubfoot due to 17q23.1q23.2 microduplication/Chromosome 17q23.1-q23.2 duplication syndrome", "CCRD:113": "四氢生物蝶呤缺乏症/Tetrahydrobiopterin deficiency; BH4D", "ORPHA:2386": "Leukoencephalopathy-palmoplantar keratoderma syndrome", "ORPHA:238606": "Primary orthostatic tremor", "ORPHA:238624": "Idiopathic intracranial hypertension/Intracranial hypertension, idiopathic", "OMIM:243200": "Idiopathic intracranial hypertension/Intracranial hypertension, idiopathic", "ORPHA:1051": "Ramos-Arroyo syndrome/Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation", "OMIM:122430": "Ramos-Arroyo syndrome/Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation", "OMIM:275120": "Thyrotropin-Releasing hormone deficiency", "ORPHA:2387": "Leukonychia totalis", "ORPHA:238722": "Familial congenital mirror movements", "OMIM:613689": "Mammary-Digital-Nail syndrome", "ORPHA:238750": "4q21 microdeletion syndrome/Chromosome 4q21 deletion syndrome", "OMIM:613509": "4q21 microdeletion syndrome/Chromosome 4q21 deletion syndrome", "OMIM:613530": "Muscular dystrophy, limb-girdle, type 1H", "ORPHA:1052": "Mosaic variegated aneuploidy syndrome/Mosaic variegated aneuploidy syndrome 1", "OMIM:257300": "Mosaic variegated aneuploidy syndrome/Mosaic variegated aneuploidy syndrome 1", "ORPHA:238769": "1q44 microdeletion syndrome", "ORPHA:2388": "Choreoacanthocytosis/CHOREOACANTHOCYTOSIS", "OMIM:200150": "Choreoacanthocytosis/CHOREOACANTHOCYTOSIS", "ORPHA:239": "Dyggve-Melchior-Clausen disease/Dyggve-Melchior-Clausen disease", "OMIM:223800": "Dyggve-Melchior-Clausen disease/Dyggve-Melchior-Clausen disease", "OMIM:122580": "Costocoracoid ligament, congenitally short", "ORPHA:2394": "Pyruvate dehydrogenase E3 deficiency/Dihydrolipoamide dehydrogenase deficiency", "OMIM:246900": "Pyruvate dehydrogenase E3 deficiency/Dihydrolipoamide dehydrogenase deficiency", "ORPHA:2396": "Encephalocraniocutaneous lipomatosis/Encephalocraniocutaneous lipomatosis", "OMIM:613001": "Encephalocraniocutaneous lipomatosis/Encephalocraniocutaneous lipomatosis", "ORPHA:2398": "Multiple symmetric lipomatosis/Lipomatosis, familial benign cervical", "OMIM:151800": "Multiple symmetric lipomatosis/Lipomatosis, familial benign cervical", "ORPHA:2399": "Nasopalpebral lipoma-coloboma syndrome/Nasopalpebral lipoma-coloboma syndrome", "OMIM:167730": "Nasopalpebral lipoma-coloboma syndrome/Nasopalpebral lipoma-coloboma syndrome", "ORPHA:1053": "Vein of Galen aneurysmal malformation", "OMIM:606812": "Fumarase deficiency", "ORPHA:240": "Léri-Weill dyschondrosteosis/Leri-Weill dyschondrosteosis", "OMIM:127300": "Léri-Weill dyschondrosteosis/Leri-Weill dyschondrosteosis", "ORPHA:2400": "Peripheral motor neuropathy-dysautonomia syndrome", "ORPHA:240071": "Classic progressive supranuclear palsy syndrome/Supranuclear palsy, progressive, 1", "OMIM:601104": "Classic progressive supranuclear palsy syndrome/Supranuclear palsy, progressive, 1", "ORPHA:240085": "Progressive supranuclear palsy-parkinsonism syndrome/Supranuclear palsy, progressive atypical", "OMIM:260540": "Progressive supranuclear palsy-parkinsonism syndrome/Supranuclear palsy, progressive atypical", "ORPHA:240094": "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome", "ORPHA:240103": "Progressive supranuclear palsy-corticobasal syndrome", "ORPHA:240112": "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome", "ORPHA:1054": "Aneurysm of sinus of Valsalva", "OMIM:128980": "Earlobes, thickened, with conductive deafness from incudostapedialabnormalities", "ORPHA:2406": "Locked-in syndrome", "OMIM:245660": "Laryngoonychocutaneous syndrome", "OMIM:613078": "Nijmegen breakage syndrome-like disorder", "ORPHA:2408": "Lowe-Kohn-Cohen syndrome", "ORPHA:2409": "Lowry-MacLean syndrome/Lowry-Maclean syndrome", "OMIM:600252": "Lowry-MacLean syndrome/Lowry-Maclean syndrome", "ORPHA:241": "Dyschromatosis universalis hereditaria/Dyschromatosis universalis hereditaria", "OMIM:127500": "Dyschromatosis universalis hereditaria/Dyschromatosis universalis hereditaria", "ORPHA:2410": "Hypergonadotropic hypogonadism-cataract syndrome/Hypogonadism-Cataract syndrome", "OMIM:240950": "Hypergonadotropic hypogonadism-cataract syndrome/Hypogonadism-Cataract syndrome", "ORPHA:2412": "Dislocation of the hip-dysmorphism syndrome", "ORPHA:2414": "Congenital pulmonary lymphangiectasia/Lymphangiectasia, pulmonary, congenital", "OMIM:265300": "Congenital pulmonary lymphangiectasia/Lymphangiectasia, pulmonary, congenital", "ORPHA:1059": "Blue rubber bleb nevus/Blue rubber bleb nevus", "OMIM:112200": "Blue rubber bleb nevus/Blue rubber bleb nevus", "ORPHA:242": "46,XY complete gonadal dysgenesis/46XY sex reversal 1", "OMIM:400044": "46,XY complete gonadal dysgenesis/46XY sex reversal 1", "ORPHA:2429": "Macrocephaly-spastic paraplegia-dysmorphism syndrome", "ORPHA:243": "46,XX gonadal dysgenesis/Ovarian dysgenesis 1", "OMIM:233300": "46,XX gonadal dysgenesis/Ovarian dysgenesis 1", "ORPHA:2430": "Congenital macroglossia/MACROGLOSSIA", "OMIM:153630": "Congenital macroglossia/MACROGLOSSIA", "ORPHA:2432": "Macrosomia-microphthalmia-cleft palate syndrome", "ORPHA:243343": "Dimethylglycine dehydrogenase deficiency/Dimethylglycine dehydrogenase deficiency", "OMIM:605850": "Dimethylglycine dehydrogenase deficiency/Dimethylglycine dehydrogenase deficiency", "ORPHA:1062": "Hereditary neurocutaneous malformation/Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included", "OMIM:106070": "Hereditary neurocutaneous malformation/Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included", "ORPHA:2435": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome", "ORPHA:2437": "Czeizel-Losonci syndrome", "ORPHA:2438": "Hand-foot-genital syndrome/Hand-foot-uterus syndrome", "OMIM:140000": "Hand-foot-genital syndrome/Hand-foot-uterus syndrome", "OMIM:183700": "Split-Foot deformity with mandibulofacial dysostosis", "ORPHA:244": "Primary ciliary dyskinesia/Ciliary dyskinesia, primary, 1", "OMIM:244400": "Primary ciliary dyskinesia/Ciliary dyskinesia, primary, 1", "ORPHA:2440": "Isolated split hand-split foot malformation/Split-Hand/foot malformation 1", "OMIM:183600": "Isolated split hand-split foot malformation/Split-Hand/foot malformation 1", "CCRD:121": "X-连锁淋巴增生症/X-linked lymphoproliferative disease; XLP/X-linked lymphoproliferative disease", "ORPHA:2442": "X-连锁淋巴增生症/X-linked lymphoproliferative disease; XLP/X-linked lymphoproliferative disease", "ORPHA:244242": "HELLP syndrome", "ORPHA:1063": "Tufted angioma/Angioma, tufted", "OMIM:607859": "Tufted angioma/Angioma, tufted", "ORPHA:244310": "RFT1-CDG/Congenital disorder of glycosylation, type In", "OMIM:612015": "RFT1-CDG/Congenital disorder of glycosylation, type In", "ORPHA:2444": "Congenital pulmonary airway malformation", "OMIM:217095": "Conotruncal heart malformations", "ORPHA:245": "Nager syndrome/Acrofacial dysostosis 1, Nager type", "OMIM:154400": "Nager syndrome/Acrofacial dysostosis 1, Nager type", "OMIM:600195": "Venous malformations, multiple cutaneous and mucosal", "ORPHA:2456": "Familial supernumerary nipples/Nipples, supernumerary", "OMIM:163700": "Familial supernumerary nipples/Nipples, supernumerary", "ORPHA:2457": "Mandibuloacral dysplasia", "OMIM:104510": "Amelogenesis imperfecta, type IV", "ORPHA:1064": "Aniridia-renal agenesis-psychomotor retardation syndrome/Aniridia, partial, with unilateral renal agenesis and psychomotorretardation", "OMIM:206750": "Aniridia-renal agenesis-psychomotor retardation syndrome/Aniridia, partial, with unilateral renal agenesis and psychomotorretardation", "ORPHA:246": "Postaxial acrofacial dysostosis/Postaxial acrofacial dysostosis", "OMIM:263750": "Postaxial acrofacial dysostosis/Postaxial acrofacial dysostosis", "OMIM:600920": "Van den Ende-Gupta syndrome", "ORPHA:2461": "Marden-Walker syndrome/Marden-Walker syndrome", "OMIM:248700": "Marden-Walker syndrome/Marden-Walker syndrome", "ORPHA:2462": "Shprintzen-Goldberg syndrome/Shprintzen-Goldberg craniosynostosis syndrome", "OMIM:182212": "Shprintzen-Goldberg syndrome/Shprintzen-Goldberg craniosynostosis syndrome", "ORPHA:2463": "Marfanoid habitus-autosomal recessive intellectual disability syndrome", "ORPHA:2466": "MASA syndrome/MASA syndrome", "OMIM:303350": "MASA syndrome/MASA syndrome", "CCRD:52.2": "致心律失常性右室发育不良/心肌病（ARVD/C）/Arrhythmogenic right ventriculardysplasia/ cardiomyopathy; ARVD/C", "ORPHA:1065": "Aniridia-cerebellar ataxia-intellectual disability syndrome/Gillespie syndrome", "OMIM:206700": "Aniridia-cerebellar ataxia-intellectual disability syndrome/Gillespie syndrome", "ORPHA:2470": "Matthew-Wood syndrome/Microphthalmia, syndromic 9", "OMIM:601186": "Matthew-Wood syndrome/Microphthalmia, syndromic 9", "ORPHA:2471": "McDonough syndrome", "ORPHA:247234": "Sporadic adult-onset ataxia of unknown etiology", "ORPHA:247257": "Inhalational anthrax", "ORPHA:1067": "Aniridia-ptosis-intellectual disability-familial obesity syndrome", "ORPHA:247262": "Hyperphosphatasia-intellectual disability syndrome", "ORPHA:2473": "McKusick-Kaufman syndrome/Mckusick-Kaufman syndrome", "OMIM:236700": "McKusick-Kaufman syndrome/Mckusick-Kaufman syndrome", "ORPHA:2475": "White forelock with malformations/White forelock with malformations", "OMIM:277740": "White forelock with malformations/White forelock with malformations", "OMIM:300455": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness", "ORPHA:247525": "Citrullinemia type I/Citrullinemia, classic", "OMIM:215700": "Citrullinemia type I/Citrullinemia, classic", "ORPHA:1068": "Aniridia-intellectual disability syndrome", "ORPHA:247585": "Citrullinemia type II/Citrullinemia, type II, adult-onset", "OMIM:603471": "Citrullinemia type II/Citrullinemia, type II, adult-onset", "ORPHA:247598": "Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset", "OMIM:605814": "Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset", "ORPHA:2476": "Dysraphism-cleft lip/palate-limb reduction defects syndrome", "ORPHA:247604": "Juvenile primary lateral sclerosis/Primary lateral sclerosis, juvenile", "OMIM:606353": "Juvenile primary lateral sclerosis/Primary lateral sclerosis, juvenile", "OMIM:241500": "Hypophosphatasia, infantile", "OMIM:241510": "Hypophosphatasia, childhood", "OMIM:146300": "Hypophosphatasia, adult", "ORPHA:1069": "Aniridia-absent patella syndrome/Aniridia and absent patella", "OMIM:106220": "Aniridia-absent patella syndrome/Aniridia and absent patella", "ORPHA:247691": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations/Vasculopathy, retinal, with cerebral leukodystrophy", "OMIM:192315": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations/Vasculopathy, retinal, with cerebral leukodystrophy", "OMIM:171400": "Multiple endocrine neoplasia, type IIA", "ORPHA:2477": "Megalencephaly", "OMIM:162300": "Multiple endocrine neoplasia, type IIB", "ORPHA:247768": "Müllerian aplasia and hyperandrogenism/Mullerian aplasia and hyperandrogenism", "OMIM:158330": "Müllerian aplasia and hyperandrogenism/Mullerian aplasia and hyperandrogenism", "ORPHA:107": "BOR syndrome/Branchiootorenal syndrome 1", "OMIM:113650": "BOR syndrome/Branchiootorenal syndrome 1", "OMIM:277000": "Mayer-Rokitansky-Kuster-Hauser syndrome", "OMIM:615517": "Hemochromatosis, type 5", "OMIM:612018": "Cataract, juvenile, with microcornea and glucosuria", "ORPHA:247798": "MUTYH-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis, 2", "OMIM:608456": "MUTYH-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis, 2", "OMIM:604004": "Megalencephalic leukoencephalopathy with subcortical cysts 1", "ORPHA:247806": "APC-related attenuated familial adenomatous polyposis", "ORPHA:247815": "Autosomal recessive ataxia due to PEX10 deficiency", "OMIM:613573": "Ectodermal dysplasia-syndactyly syndrome 1", "OMIM:613576": "Ectodermal dysplasia-syndactyly syndrome 2", "OMIM:613587": "Occult macular dystrophy", "OMIM:611762": "Familial cold autoinflammatory syndrome 2", "ORPHA:2479": "Megalocornea-intellectual disability syndrome/Megalocornea-Mental retardation syndrome", "OMIM:249310": "Megalocornea-intellectual disability syndrome/Megalocornea-Mental retardation syndrome", "ORPHA:248": "Autosomal recessive hypohidrotic ectodermal dysplasia", "ORPHA:2481": "Neurocutaneous melanocytosis/Neurocutaneous melanosis, somatic", "OMIM:249400": "Neurocutaneous melanocytosis/Neurocutaneous melanosis, somatic", "ORPHA:248111": "Juvenile Huntington disease", "ORPHA:1071": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome/Hay-Wells syndrome", "OMIM:106260": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome/Hay-Wells syndrome", "ORPHA:2483": "Melkersson-Rosenthal syndrome/Melkersson-Rosenthal syndrome", "OMIM:155900": "Melkersson-Rosenthal syndrome/Melkersson-Rosenthal syndrome", "ORPHA:1072": "Ankyloblepharon filiforme adnatum-cleft palate syndrome/Ankyloblepharon filiforme adnatum and cleft palate", "OMIM:106250": "Ankyloblepharon filiforme adnatum-cleft palate syndrome/Ankyloblepharon filiforme adnatum and cleft palate", "ORPHA:2484": "Melnick-Needles syndrome/Melnick-Needles syndrome", "OMIM:309350": "Melnick-Needles syndrome/Melnick-Needles syndrome", "ORPHA:2485": "Melorheostosis/Melorheostosis, isolated", "OMIM:155950": "Melorheostosis/Melorheostosis, isolated", "ORPHA:2487": "Lower limb malformation-hypospadias syndrome", "ORPHA:1074": "Ankyloblepharon filiforme adnatum-imperforate anus syndrome", "ORPHA:2489": "Upper limb defect-eye and ear abnormalities syndrome/Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness", "OMIM:274205": "Upper limb defect-eye and ear abnormalities syndrome/Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness", "ORPHA:2491": "Müllerian duct anomalies-limb anomalies syndrome/Hypomelia with mullerian duct anomalies", "OMIM:146160": "Müllerian duct anomalies-limb anomalies syndrome/Hypomelia with mullerian duct anomalies", "ORPHA:2492": "FATCO syndrome", "ORPHA:2494": "Ménétrier disease/Gastritis, familial giant hypertrophic", "OMIM:137280": "Ménétrier disease/Gastritis, familial giant hypertrophic", "ORPHA:2495": "Meningioma", "ORPHA:2496": "Mesomelia-synostoses syndrome/Mesomelia-Synostoses syndrome", "OMIM:600383": "Mesomelia-synostoses syndrome/Mesomelia-Synostoses syndrome", "ORPHA:2497": "Upper limb mesomelic dysplasia/Ulnar hypoplasia", "OMIM:191440": "Upper limb mesomelic dysplasia/Ulnar hypoplasia", "OMIM:309630": "Metacarpal 4-5 fusion", "ORPHA:2499": "Metachondromatosis/METACHONDROMATOSIS", "OMIM:156250": "Metachondromatosis/METACHONDROMATOSIS", "ORPHA:1077": "Dental ankylosis", "CCRD:34.1": "戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I", "ORPHA:25": "戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I", "OMIM:231670": "戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I", "ORPHA:2500": "Acrogeria", "ORPHA:2501": "Metaphyseal chondrodysplasia, Spahr type/Metaphyseal chondrodysplasia, Spahr type", "OMIM:250400": "Metaphyseal chondrodysplasia, Spahr type/Metaphyseal chondrodysplasia, Spahr type", "ORPHA:2502": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome/Metaphyseal dysostosis, mental retardation, and conductive deafness", "OMIM:250420": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome/Metaphyseal dysostosis, mental retardation, and conductive deafness", "OMIM:156510": "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly", "ORPHA:2505": "Multiple benign circumferential skin creases on limbs/Skin creases, congenital symmetric circumferential, 1", "OMIM:156610": "Multiple benign circumferential skin creases on limbs/Skin creases, congenital symmetric circumferential, 1", "ORPHA:2508": "Corpus callosum agenesis-abnormal genitalia syndrome/Corpus callosum, agenesis of, with abnormal genitalia", "OMIM:300004": "Corpus callosum agenesis-abnormal genitalia syndrome/Corpus callosum, agenesis of, with abnormal genitalia", "ORPHA:1078": "Thumb stiffness-brachydactyly-intellectual disability syndrome/Thumbs, stiff, with brachydactyly type A1 and developmental delay", "OMIM:188201": "Thumb stiffness-brachydactyly-intellectual disability syndrome/Thumbs, stiff, with brachydactyly type A1 and developmental delay", "ORPHA:250923": "Isolated aniridia/Aniridia", "OMIM:106210": "Isolated aniridia/Aniridia", "ORPHA:250972": "Polymicrogyria with optic nerve hypoplasia", "ORPHA:250977": "AICA-ribosiduria/AICA-ribosiduria due to ATIC deficiency", "OMIM:608688": "AICA-ribosiduria/AICA-ribosiduria due to ATIC deficiency", "ORPHA:250984": "Autosomal recessive Stickler syndrome", "ORPHA:250989": "1q21.1 microdeletion syndrome/Chromosome 1q21.1 deletion syndrome, 1.35-mb", "OMIM:612474": "1q21.1 microdeletion syndrome/Chromosome 1q21.1 deletion syndrome, 1.35-mb", "ORPHA:108": "Babesiosis", "ORPHA:250994": "1q21.1 microduplication syndrome/Chromosome 1q21.1 duplication syndrome", "OMIM:612475": "1q21.1 microduplication syndrome/Chromosome 1q21.1 duplication syndrome", "ORPHA:250999": "1q41q42 microdeletion syndrome/Chromosome 1q41-q42 deletion syndrome", "OMIM:612530": "1q41q42 microdeletion syndrome/Chromosome 1q41-q42 deletion syndrome", "ORPHA:2510": "Micro syndrome/Warburg micro syndrome 1", "OMIM:600118": "Micro syndrome/Warburg micro syndrome 1", "ORPHA:251004": "Paternal uniparental disomy of chromosome 1", "ORPHA:251009": "Maternal uniparental disomy of chromosome 1", "ORPHA:251014": "2q31.1 microdeletion syndrome", "ORPHA:251019": "2q32q33 microdeletion syndrome/Glass syndrome", "OMIM:612313": "2q32q33 microdeletion syndrome/Glass syndrome", "ORPHA:251038": "3q29 microduplication syndrome/Chromosome 3q29 duplication syndrome", "OMIM:611936": "3q29 microduplication syndrome/Chromosome 3q29 duplication syndrome", "ORPHA:251046": "6p22 microdeletion syndrome", "ORPHA:251056": "6q25 microdeletion syndrome/Chromosome 6q25-q25 deletion syndrome", "OMIM:612863": "6q25 microdeletion syndrome/Chromosome 6q25-q25 deletion syndrome", "ORPHA:251066": "8p11.2 deletion syndrome", "ORPHA:251071": "8p23.1 microdeletion syndrome", "ORPHA:251076": "8p23.1 duplication syndrome", "ORPHA:2511": "Microbrachycephaly-ptosis-cleft lip syndrome/Richieri-Costa/guion-Almeida syndrome", "OMIM:268850": "Microbrachycephaly-ptosis-cleft lip syndrome/Richieri-Costa/guion-Almeida syndrome", "ORPHA:2512": "Autosomal recessive primary microcephaly/Microcephaly, primary autosomal recessive, 1", "OMIM:251200": "Autosomal recessive primary microcephaly/Microcephaly, primary autosomal recessive, 1", "ORPHA:435804": "Short stature-advanced bone age-early-onset osteoarthritis syndrome/Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "OMIM:165800": "Short stature-advanced bone age-early-onset osteoarthritis syndrome/Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "ORPHA:251274": "Familial hyperaldosteronism type III/Hyperaldosteronism, familial, type III", "OMIM:613677": "Familial hyperaldosteronism type III/Hyperaldosteronism, familial, type III", "OMIM:611040": "Microphthalmia, isolated 5", "ORPHA:251282": "Autosomal dominant spastic ataxia type 1/Spastic ataxia 1, autosomal dominant", "OMIM:108600": "Autosomal dominant spastic ataxia type 1/Spastic ataxia 1, autosomal dominant", "OMIM:153870": "Macular dystrophy, concentric annular", "OMIM:168550": "Parietal foramina with cleidocranial dysplasia", "OMIM:172870": "Pigmented paravenous chorioretinal atrophy", "ORPHA:2513": "Microcephaly-albinism-digital anomalies syndrome/Microcephaly - albinism - digital anomalies", "OMIM:203340": "Microcephaly-albinism-digital anomalies syndrome/Microcephaly - albinism - digital anomalies", "ORPHA:251347": "Ataxia-telangiectasia-like disorder/Ataxia-telangiectasia-like disorder 1", "OMIM:604391": "Ataxia-telangiectasia-like disorder/Ataxia-telangiectasia-like disorder 1", "ORPHA:251383": "CK syndrome/CK syndrome", "OMIM:300831": "CK syndrome/CK syndrome", "ORPHA:2514": "Autosomal dominant primary microcephaly/Microcephaly, autosomal dominant", "OMIM:156580": "Autosomal dominant primary microcephaly/Microcephaly, autosomal dominant", "ORPHA:2515": "Microcephaly-cardiomyopathy syndrome/MICROCEPHALY-CARDIOMYOPATHY", "OMIM:251220": "Microcephaly-cardiomyopathy syndrome/MICROCEPHALY-CARDIOMYOPATHY", "ORPHA:251510": "46,XY partial gonadal dysgenesis", "ORPHA:2516": "Microcephaly-cardiac defect-lung malsegmentation syndrome/Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs", "OMIM:601355": "Microcephaly-cardiac defect-lung malsegmentation syndrome/Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs", "ORPHA:251623": "Pituicytoma", "ORPHA:2518": "Autosomal recessive chorioretinopathy-microcephaly syndrome/Microcephaly and chorioretinopathy, autosomal recessive, 1", "OMIM:251270": "Autosomal recessive chorioretinopathy-microcephaly syndrome/Microcephaly and chorioretinopathy, autosomal recessive, 1", "OMIM:606483": "Charcot-Marie-Tooth disease, dominant intermediate A", "ORPHA:2519": "Microcephaly-seizures-intellectual disability-heart disease syndrome", "ORPHA:251909": "Pineoblastoma", "ORPHA:251912": "Pineocytoma", "ORPHA:251915": "Papillary tumor of the pineal region", "ORPHA:251937": "Gangliocytoma", "ORPHA:251992": "Ganglioneuroma", "ORPHA:252054": "Hemangioblastoma", "ORPHA:2521": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome", "ORPHA:252164": "Benign schwannoma", "ORPHA:252183": "Neurofibroma", "ORPHA:2522": "Microcephaly-cervical spine fusion anomalies syndrome/Microcephaly with cervical spine fusion anomalies", "OMIM:251250": "Microcephaly-cervical spine fusion anomalies syndrome/Microcephaly with cervical spine fusion anomalies", "OMIM:276300": "Mismatch repair cancer syndrome 1", "OMIM:155755": "Melanoma-Astrocytoma syndrome", "ORPHA:2523": "Microcephaly-brain defect-spasticity-hypernatremia syndrome", "ORPHA:2526": "Microcephaly-lymphedema-chorioretinopathy syndrome/Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "OMIM:152950": "Microcephaly-lymphedema-chorioretinopathy syndrome/Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "ORPHA:2528": "Microcephaly-microcornea syndrome, Seemanova type", "ORPHA:2533": "Microcephaly-deafness-intellectual disability syndrome", "ORPHA:2536": "Microcornea-glaucoma-absent frontal sinuses syndrome/Microcornea, glaucoma, and absent frontal sinuses", "OMIM:156700": "Microcornea-glaucoma-absent frontal sinuses syndrome/Microcornea, glaucoma, and absent frontal sinuses", "ORPHA:2538": "Microgastria-limb reduction defect syndrome", "OMIM:251600": "Microphthalmia, isolated 1", "OMIM:613641": "Charcot-marie-tooth disease, recessive intermediate B", "ORPHA:254343": "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome/Spastic ataxia 4, autosomal recessive", "OMIM:613672": "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome/Spastic ataxia 4, autosomal recessive", "ORPHA:254346": "19p13.12 microdeletion syndrome", "ORPHA:254351": "Distal 7q11.23 microdeletion syndrome", "ORPHA:254361": "Plectin-related limb-girdle muscular dystrophy R17/Muscular dystrophy, limb-girdle, type 2Q", "OMIM:613723": "Plectin-related limb-girdle muscular dystrophy R17/Muscular dystrophy, limb-girdle, type 2Q", "ORPHA:254478": "Lichen planus pemphigoides", "ORPHA:254504": "Inhalational botulism", "ORPHA:254509": "Iatrogenic botulism", "ORPHA:254516": "Temple syndrome/Temple syndrome", "OMIM:616222": "Temple syndrome/Temple syndrome", "ORPHA:254519": "Kagami-Ogata syndrome/Kagami-Ogata syndrome", "OMIM:608149": "Kagami-Ogata syndrome/Kagami-Ogata syndrome", "ORPHA:2547": "Microphthalmia-microtia-fetal akinesia syndrome", "ORPHA:254704": "Genetic hyperferritinemia without iron overload", "OMIM:606482": "Charcot-Marie-Tooth disease, dominant intermediate B", "ORPHA:254854": "Pure mitochondrial myopathy", "ORPHA:254857": "Lethal infantile mitochondrial myopathy/Myopathy, mitochondrial, lethal infantile", "OMIM:551000": "Lethal infantile mitochondrial myopathy/Myopathy, mitochondrial, lethal infantile", "ORPHA:254864": "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency/Mitochondrial myopathy, infantile, transient", "OMIM:500009": "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency/Mitochondrial myopathy, infantile, transient", "ORPHA:254875": "Mitochondrial DNA depletion syndrome, myopathic form/Mitochondrial DNA depletion syndrome 2 (myopathic type)", "OMIM:609560": "Mitochondrial DNA depletion syndrome, myopathic form/Mitochondrial DNA depletion syndrome 2 (myopathic type)", "ORPHA:254886": "Autosomal recessive progressive external ophthalmoplegia", "ORPHA:254892": "Autosomal dominant progressive external ophthalmoplegia/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "OMIM:157640": "Autosomal dominant progressive external ophthalmoplegia/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "OMIM:614651": "Coenzyme Q10 deficiency, primary, 2", "ORPHA:2549": "Oculoauriculovertebral spectrum with radial defects/Hemifacial microsomia with radial defects", "OMIM:141400": "Oculoauriculovertebral spectrum with radial defects/Hemifacial microsomia with radial defects", "OMIM:220110": "Mitochondrial complex IV deficiency, nuclear type 1", "ORPHA:109": "Bannayan-Riley-Ruvalcaba syndrome", "OMIM:610498": "Combined oxidative phosphorylation deficiency 2", "OMIM:610678": "Combined oxidative phosphorylation deficiency 4", "ORPHA:254930": "Combined oxidative phosphorylation defect type 7/Combined oxidative phosphorylation deficiency 7", "OMIM:613559": "Combined oxidative phosphorylation defect type 7/Combined oxidative phosphorylation deficiency 7", "ORPHA:255": "Dopa-responsive dystonia", "OMIM:616860": "Anemia, sideroblastic, 3, pyridoxine-refractory", "ORPHA:255138": "Pyruvate dehydrogenase E1-beta deficiency/Pyruvate dehydrogenase E1-beta deficiency", "OMIM:614111": "Pyruvate dehydrogenase E1-beta deficiency/Pyruvate dehydrogenase E1-beta deficiency", "ORPHA:255182": "Pyruvate dehydrogenase E3-binding protein deficiency/Pyruvate dehydrogenase e3-binding protein deficiency", "OMIM:245349": "Pyruvate dehydrogenase E3-binding protein deficiency/Pyruvate dehydrogenase e3-binding protein deficiency", "ORPHA:2552": "Microsporidiosis", "CCRD:72.3": "Leigh 综合征/Leigh syndrome/Mitochondrial DNA-associated Leigh syndrome", "ORPHA:255210": "Leigh 综合征/Leigh syndrome/Mitochondrial DNA-associated Leigh syndrome", "OMIM:256810": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)", "OMIM:612075": "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)", "ORPHA:255241": "Leigh syndrome with leukodystrophy", "ORPHA:255249": "Leigh syndrome with nephrotic syndrome", "ORPHA:2554": "Ear-patella-short stature syndrome", "ORPHA:2556": "Microphthalmia with linear skin defects syndrome/Linear skin defects with multiple congenital anomalies 1", "OMIM:309801": "Microphthalmia with linear skin defects syndrome/Linear skin defects with multiple congenital anomalies 1", "ORPHA:2557": "Mietens syndrome/Mental retardation syndrome, Mietens-Weber type", "OMIM:249600": "Mietens syndrome/Mental retardation syndrome, Mietens-Weber type", "ORPHA:256": "Early-onset generalized limb-onset dystonia", "ORPHA:2560": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "OMIM:200970": "Ackerman syndrome", "ORPHA:2563": "MOMO syndrome/MOMO syndrome", "OMIM:157980": "MOMO syndrome/MOMO syndrome", "ORPHA:2564": "Tetramelic monodactyly/Tetramelic monodactyly", "OMIM:187510": "Tetramelic monodactyly/Tetramelic monodactyly", "OMIM:226990": "Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive", "ORPHA:257": "Epidermolysis bullosa simplex with muscular dystrophy/Epidermolysis bullosa simplex with muscular dystrophy", "OMIM:226670": "Epidermolysis bullosa simplex with muscular dystrophy/Epidermolysis bullosa simplex with muscular dystrophy", "ORPHA:2570": "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome/Holoprosencephaly with fetal akinesia/hypokinesia sequence", "OMIM:306990": "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome/Holoprosencephaly with fetal akinesia/hypokinesia sequence", "ORPHA:2571": "X-linked immunoneurologic disorder/Immunoneurologic disorder, X-linked", "OMIM:300076": "X-linked immunoneurologic disorder/Immunoneurologic disorder, X-linked", "ORPHA:2572": "Spastic ataxia-corneal dystrophy syndrome/Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia", "OMIM:271320": "Spastic ataxia-corneal dystrophy syndrome/Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia", "ORPHA:2573": "Moyamoya disease/Moyamoya disease 1", "OMIM:252350": "Moyamoya disease/Moyamoya disease 1", "ORPHA:2574": "Moynahan syndrome", "ORPHA:2575": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome", "ORPHA:2576": "Mulibrey nanism/Mulibrey nanism", "OMIM:253250": "Mulibrey nanism/Mulibrey nanism", "ORPHA:2578": "Mayer-Rokitansky-Küster-Hauser syndrome type 2/Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies", "OMIM:601076": "Mayer-Rokitansky-Küster-Hauser syndrome type 2/Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies", "ORPHA:2579": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome/Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus", "OMIM:158500": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome/Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus", "ORPHA:258": "Laminin subunit alpha 2-related congenital muscular dystrophy/Muscular dystrophy, congenital, merosin deficient or partially deficient", "OMIM:607855": "Laminin subunit alpha 2-related congenital muscular dystrophy/Muscular dystrophy, congenital, merosin deficient or partially deficient", "ORPHA:2582": "Myalgia-eosinophilia syndrome associated with tryptophan", "ORPHA:2583": "Mycetoma", "ORPHA:2584": "Classic mycosis fungoides/Mycosis fungoides", "OMIM:254400": "Classic mycosis fungoides/Mycosis fungoides", "ORPHA:1094": "Anonychia-microcephaly syndrome", "ORPHA:2585": "Ataxia-pancytopenia syndrome/Ataxia-Pancytopenia syndrome", "OMIM:159550": "Ataxia-pancytopenia syndrome/Ataxia-Pancytopenia syndrome", "OMIM:254600": "Myeloperoxidase deficiency", "ORPHA:2588": "Myhre syndrome/Myhre syndrome", "OMIM:139210": "Myhre syndrome/Myhre syndrome", "ORPHA:2589": "Myoclonus-cerebellar ataxia-deafness syndrome/Myoclonus, cerebellar ataxia, and deafness", "OMIM:159800": "Myoclonus-cerebellar ataxia-deafness syndrome/Myoclonus, cerebellar ataxia, and deafness", "ORPHA:2590": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome/Spinal muscular atrophy with progressive myoclonic epilepsy", "OMIM:159950": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome/Spinal muscular atrophy with progressive myoclonic epilepsy", "ORPHA:2591": "Infantile myofibromatosis/Myofibromatosis, infantile, 1", "OMIM:228550": "Infantile myofibromatosis/Myofibromatosis, infantile, 1", "ORPHA:2593": "Tubular aggregate myopathy/Myopathy, tubular aggregate, 1", "OMIM:160565": "Tubular aggregate myopathy/Myopathy, tubular aggregate, 1", "ORPHA:2596": "Myopathy and diabetes mellitus/Mitochondrial myopathy with diabetes", "OMIM:500002": "Myopathy and diabetes mellitus/Mitochondrial myopathy with diabetes", "ORPHA:25968": "Benign occipital epilepsy/Epilepsy, benign occipital", "OMIM:132090": "Benign occipital epilepsy/Epilepsy, benign occipital", "ORPHA:2597": "Mitochondrial myopathy-lactic acidosis-deafness syndrome", "ORPHA:11": "Pentasomy X", "ORPHA:2598": "Mitochondrial myopathy and sideroblastic anemia/Myopathy, lactic acidosis, and sideroblastic anemia 1", "OMIM:600462": "Mitochondrial myopathy and sideroblastic anemia/Myopathy, lactic acidosis, and sideroblastic anemia 1", "OMIM:310440": "Myopathy, X-linked, with excessive autophagy", "ORPHA:26": "Methylmalonic acidemia with homocystinuria", "ORPHA:2604": "Familial visceral myopathy", "ORPHA:2608": "N syndrome/N syndrome", "OMIM:310465": "N syndrome/N syndrome", "ORPHA:2609": "Isolated complex I deficiency/Mitochondrial complex I deficiency, nuclear type 1", "OMIM:252010": "Isolated complex I deficiency/Mitochondrial complex I deficiency, nuclear type 1", "ORPHA:261": "Emery-Dreifuss muscular dystrophy", "OMIM:137215": "Gastric cancer, hereditary diffuse", "ORPHA:110": "Bardet-Biedl syndrome", "ORPHA:2611": "Linear verrucous nevus syndrome", "ORPHA:261102": "Distal 7q11.23 microduplication syndrome", "ORPHA:261112": "Monosomy 9p/Chromosome 9P deletion syndrome", "OMIM:158170": "Monosomy 9p/Chromosome 9P deletion syndrome", "ORPHA:261120": "14q11.2 microdeletion syndrome/Chromosome 14q11-q22 deletion syndrome", "OMIM:613457": "14q11.2 microdeletion syndrome/Chromosome 14q11-q22 deletion syndrome", "ORPHA:261144": "FOXG1 syndrome due to 14q12 microdeletion", "ORPHA:261183": "15q11.2 microdeletion syndrome/Chromosome 15q11.2 deletion syndrome", "OMIM:615656": "15q11.2 microdeletion syndrome/Chromosome 15q11.2 deletion syndrome", "ORPHA:261190": "15q14 microdeletion syndrome/Chromosome 15q14 deletion syndrome", "OMIM:616898": "15q14 microdeletion syndrome/Chromosome 15q14 deletion syndrome", "ORPHA:261197": "Proximal 16p11.2 microdeletion syndrome/Chromosome 16p11.2 deletion syndrome, 593-kb", "OMIM:611913": "Proximal 16p11.2 microdeletion syndrome/Chromosome 16p11.2 deletion syndrome, 593-kb", "ORPHA:2612": "Linear nevus sebaceus syndrome/Schimmelpenning-Feuerstein-Mims syndrome", "OMIM:163200": "Linear nevus sebaceus syndrome/Schimmelpenning-Feuerstein-Mims syndrome", "ORPHA:261204": "16p11.2p12.2 microduplication syndrome", "ORPHA:1101": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "ORPHA:261211": "16p11.2p12.2 microdeletion syndrome/Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb", "OMIM:613604": "16p11.2p12.2 microdeletion syndrome/Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb", "ORPHA:261222": "Distal 16p11.2 microdeletion syndrome", "ORPHA:261236": "16p13.11 microdeletion syndrome", "ORPHA:261243": "16p13.11 microduplication syndrome", "ORPHA:261250": "16q24.3 microdeletion syndrome", "ORPHA:261265": "17q12 microdeletion syndrome/Chromosome 17q12 deletion syndrome", "OMIM:614527": "17q12 microdeletion syndrome/Chromosome 17q12 deletion syndrome", "ORPHA:261272": "17q12 microduplication syndrome/Chromosome 17Q12 duplication syndrome", "OMIM:614526": "17q12 microduplication syndrome/Chromosome 17Q12 duplication syndrome", "ORPHA:261279": "17q23.1q23.2 microdeletion syndrome/Chromosome 17q23.1-q23.2 deletion syndrome", "OMIM:613355": "17q23.1q23.2 microdeletion syndrome/Chromosome 17q23.1-q23.2 deletion syndrome", "ORPHA:1000": "Ocular albinism with late-onset sensorineural deafness/Albinism, ocular, with late-onset sensorineural deafness", "OMIM:300650": "Ocular albinism with late-onset sensorineural deafness/Albinism, ocular, with late-onset sensorineural deafness", "OMIM:608323": "Charcot-Marie-Tooth disease, dominant intermediate C", "ORPHA:1104": "Anophthalmia plus syndrome/Fryns microphthalmia syndrome", "OMIM:600776": "Anophthalmia plus syndrome/Fryns microphthalmia syndrome", "ORPHA:261290": "Trisomy 17p", "ORPHA:261295": "20p12.3 microdeletion syndrome", "ORPHA:2613": "Nail-patella-like renal disease/Focal segmental glomerulosclerosis 10", "OMIM:256020": "Nail-patella-like renal disease/Focal segmental glomerulosclerosis 10", "ORPHA:261304": "Paternal 20q13.2q13.3 microdeletion syndrome", "ORPHA:261311": "20q13.33 microdeletion syndrome", "ORPHA:261318": "Trisomy 20p", "ORPHA:261323": "21q22.11q22.12 microdeletion syndrome", "ORPHA:261330": "Distal 22q11.2 microdeletion syndrome/Chromosome 22q11.2 deletion syndrome, distal", "OMIM:611867": "Distal 22q11.2 microdeletion syndrome/Chromosome 22q11.2 deletion syndrome, distal", "ORPHA:261337": "Distal 22q11.2 microduplication syndrome", "ORPHA:261344": "Trisomy 1q", "ORPHA:1106": "Microphthalmia with limb anomalies/Microphthalmia with limb anomalies", "OMIM:206920": "Microphthalmia with limb anomalies/Microphthalmia with limb anomalies", "ORPHA:261349": "2p15p16.1 microdeletion syndrome/Chromosome 2p16.1-p15 deletion syndrome", "OMIM:612513": "2p15p16.1 microdeletion syndrome/Chromosome 2p16.1-p15 deletion syndrome", "ORPHA:26137": "Juvenile temporal arteritis", "ORPHA:2614": "Nail-patella syndrome/Nail-Patella syndrome", "OMIM:161200": "Nail-patella syndrome/Nail-Patella syndrome", "ORPHA:261476": "Xp21 deletion syndrome", "ORPHA:261483": "Xq27.3q28 duplication syndrome/Chromosome xq27.3-q28 duplication syndrome", "OMIM:300869": "Xq27.3q28 duplication syndrome/Chromosome xq27.3-q28 duplication syndrome", "ORPHA:261494": "Kleefstra syndrome/Kleefstra syndrome", "OMIM:610253": "Kleefstra syndrome/Kleefstra syndrome", "ORPHA:261519": "Maternal uniparental disomy of chromosome X", "ORPHA:261524": "Paternal uniparental disomy of chromosome X", "ORPHA:111": "Barth syndrome/Barth syndrome", "OMIM:302060": "Barth syndrome/Barth syndrome", "ORPHA:261529": "Ring chromosome Y syndrome", "ORPHA:261534": "49,XXXYY syndrome", "ORPHA:261584": "Familial adenomatous polyposis due to 5q22.2 microdeletion", "ORPHA:2616": "3M syndrome/3-M syndrome 1", "OMIM:273750": "3M syndrome/3-M syndrome 1", "ORPHA:1110": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome/Aortic arch anomaly with peculiar facies and mental retardation", "OMIM:107500": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome/Aortic arch anomaly with peculiar facies and mental retardation", "OMIM:610205": "Alagille syndrome 2", "ORPHA:2617": "Microcephalic primordial dwarfism, Montreal type/Microcephalic primordial dwarfism, Montreal type", "OMIM:210700": "Microcephalic primordial dwarfism, Montreal type/Microcephalic primordial dwarfism, Montreal type", "ORPHA:1112": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "ORPHA:1113": "Aphalangy-syndactyly-microcephaly syndrome/Aphalangia, partial, with syndactyly and duplication of metatarsaliv", "OMIM:600384": "Aphalangy-syndactyly-microcephaly syndrome/Aphalangia, partial, with syndactyly and duplication of metatarsaliv", "ORPHA:2619": "Brachydactylous dwarfism, Mseleni type/Brachydactylous dwarfism, Mseleni type", "OMIM:613342": "Brachydactylous dwarfism, Mseleni type/Brachydactylous dwarfism, Mseleni type", "ORPHA:1114": "Aplasia cutis congenita/Aplasia cutis congenita, nonsyndromic", "OMIM:107600": "Aplasia cutis congenita/Aplasia cutis congenita, nonsyndromic", "ORPHA:261911": "Partial deletion of the short arm of chromosome 7", "ORPHA:1116": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome/Aplasia cutis congenita with intestinal lymphangiectasia", "OMIM:207731": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome/Aplasia cutis congenita with intestinal lymphangiectasia", "CCRD:98": "进行性肌营养不良（Duchenne/Becker型）/Muscular dystrophy (Duchenne/Becker type)/Duchenne and Becker muscular dystrophy", "ORPHA:262": "进行性肌营养不良（Duchenne/Becker型）/Muscular dystrophy (Duchenne/Becker type)/Duchenne and Becker muscular dystrophy", "ORPHA:1117": "Aplasia cutis-myopia syndrome/Aplasia cutis congenita, high myopia, and cone-rod dysfunction", "OMIM:601075": "Aplasia cutis-myopia syndrome/Aplasia cutis congenita, high myopia, and cone-rod dysfunction", "ORPHA:1118": "Fibular aplasia-ectrodactyly syndrome/Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia", "OMIM:113310": "Fibular aplasia-ectrodactyly syndrome/Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia", "OMIM:607791": "Charcot-Marie-Tooth disease, dominant intermediate D", "ORPHA:112": "Bartter syndrome", "ORPHA:1120": "Lung agenesis-heart defect-thumb anomalies syndrome/Lung agenesis, congenital heart defects, and thumb anomalies syndrome", "OMIM:601612": "Lung agenesis-heart defect-thumb anomalies syndrome/Lung agenesis, congenital heart defects, and thumb anomalies syndrome", "ORPHA:262767": "Partial trisomy/tetrasomy of the short arm of chromosome 9", "ORPHA:1122": "Ulnar hypoplasia-split foot syndrome", "ORPHA:1123": "Caudal appendage-deafness syndrome", "ORPHA:2631": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome/Mesomelic limb shortening and bowing", "OMIM:249710": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome/Mesomelic limb shortening and bowing", "ORPHA:2632": "Langer mesomelic dysplasia/Langer mesomelic dysplasia", "OMIM:249700": "Langer mesomelic dysplasia/Langer mesomelic dysplasia", "ORPHA:263297": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency/Glycogen storage disease XV", "OMIM:613507": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency/Glycogen storage disease XV", "ORPHA:2633": "Mesomelic dysplasia, Nievergelt type/Nievergelt syndrome", "OMIM:163400": "Mesomelic dysplasia, Nievergelt type/Nievergelt syndrome", "OMIM:257550": "Ocular motor apraxia", "ORPHA:2634": "Mesomelic dwarfism, Reinhardt-Pfeiffer type", "ORPHA:263410": "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome", "OMIM:601374": "Aprosencephaly and cerebellar dysgenesis", "ORPHA:263455": "Hyperinsulinism due to HNF4A deficiency", "ORPHA:263458": "Hyperinsulinism due to INSR deficiency/Hyperinsulinemic hypoglycemia, familial, 5", "OMIM:609968": "Hyperinsulinism due to INSR deficiency/Hyperinsulinemic hypoglycemia, familial, 5", "ORPHA:263463": "CHST3-related skeletal dysplasia/Spondyloepiphyseal dysplasia with congenital joint dislocations", "OMIM:143095": "CHST3-related skeletal dysplasia/Spondyloepiphyseal dysplasia with congenital joint dislocations", "ORPHA:1129": "Arachnodactyly-abnormal ossification-intellectual disability syndrome", "OMIM:184095": "Spondyloepiphyseal dysplasia, Maroteaux type", "ORPHA:263487": "COG5-CDG/Congenital disorder of glycosylation, type IIi", "OMIM:613612": "COG5-CDG/Congenital disorder of glycosylation, type IIi", "ORPHA:263494": "DPM3-CDG/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15", "OMIM:612937": "DPM3-CDG/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15", "ORPHA:2635": "Metatropic dysplasia/Metatropic dysplasia", "OMIM:156530": "Metatropic dysplasia/Metatropic dysplasia", "ORPHA:263501": "COG4-CDG/Congenital disorder of glycosylation, type IIj", "OMIM:613489": "COG4-CDG/Congenital disorder of glycosylation, type IIj", "ORPHA:263508": "COG1-CDG/Congenital disorder of glycosylation, type IIg", "OMIM:611209": "COG1-CDG/Congenital disorder of glycosylation, type IIg", "ORPHA:263516": "Progressive myoclonic epilepsy type 3/Epilepsy, progressive myoclonic 3, with or without intracellular inclusions", "OMIM:611726": "Progressive myoclonic epilepsy type 3/Epilepsy, progressive myoclonic 3, with or without intracellular inclusions", "ORPHA:263534": "Acral peeling skin syndrome/Peeling skin syndrome, Acral type", "OMIM:609796": "Acral peeling skin syndrome/Peeling skin syndrome, Acral type", "ORPHA:113": "Bazex-Dupré-Christol syndrome/Bazex syndrome", "OMIM:301845": "Bazex-Dupré-Christol syndrome/Bazex syndrome", "OMIM:270300": "Peeling skin syndrome 1", "ORPHA:2636": "Microcephalic osteodysplastic primordial dwarfism types I and III", "ORPHA:263665": "NK-cell enteropathy", "ORPHA:2637": "Microcephalic osteodysplastic primordial dwarfism type II/Microcephalic osteodysplastic primordial dwarfism, type II", "OMIM:210720": "Microcephalic osteodysplastic primordial dwarfism type II/Microcephalic osteodysplastic primordial dwarfism, type II", "ORPHA:1131": "X-linked mandibulofacial dysostosis/Branchial arch syndrome, X-linked", "OMIM:301950": "X-linked mandibulofacial dysostosis/Branchial arch syndrome, X-linked", "ORPHA:2639": "Fibular aplasia-complex brachydactyly syndrome/Fibular hypoplasia and complex brachydactyly", "OMIM:228900": "Fibular aplasia-complex brachydactyly syndrome/Fibular hypoplasia and complex brachydactyly", "ORPHA:264200": "14q22q23 microdeletion syndrome/Frias syndrome", "OMIM:609640": "14q22q23 microdeletion syndrome/Frias syndrome", "ORPHA:2643": "Microcephalic primordial dwarfism, Toriello type", "ORPHA:264450": "Trisomy 8p", "ORPHA:2645": "Osteoglosphonic dysplasia/Osteoglophonic dysplasia", "OMIM:166250": "Osteoglosphonic dysplasia/Osteoglophonic dysplasia", "ORPHA:264580": "Glycogen storage disease due to liver phosphorylase kinase deficiency", "OMIM:168400": "Parastremmatic dwarfism", "ORPHA:264675": "Hereditary pulmonary alveolar proteinosis", "ORPHA:1133": "AREDYLD syndrome/AREDYLD", "OMIM:207780": "AREDYLD syndrome/AREDYLD", "ORPHA:1134": "Isolated arrhinia", "ORPHA:1135": "Arrhinia-choanal atresia-microphthalmia syndrome", "ORPHA:2655": "Thanatophoric dysplasia", "ORPHA:2658": "Lenz-Majewski hyperostotic dwarfism/Lenz-Majewski hyperostotic dwarfism", "OMIM:151050": "Lenz-Majewski hyperostotic dwarfism/Lenz-Majewski hyperostotic dwarfism", "ORPHA:266": "Autosomal dominant limb-girdle muscular dystrophy type 1A", "ORPHA:2662": "Keipert syndrome/Keipert syndrome", "OMIM:301026": "Keipert syndrome/Keipert syndrome", "ORPHA:2663": "Nathalie syndrome/Nathalie syndrome", "OMIM:255990": "Nathalie syndrome/Nathalie syndrome", "ORPHA:1136": "Arnold-Chiari malformation type II/Chiari malformation type II", "OMIM:207950": "Arnold-Chiari malformation type II/Chiari malformation type II", "ORPHA:2668": "Nephropathy-deafness-hyperparathyroidism syndrome", "ORPHA:2669": "Nephrosis-deafness-urinary tract-digital malformations syndrome/Nephrosis with deafness and urinary tract and digital malformations", "OMIM:256200": "Nephrosis-deafness-urinary tract-digital malformations syndrome/Nephrosis with deafness and urinary tract and digital malformations", "ORPHA:267": "Calpain-3-related limb-girdle muscular dystrophy R1/Muscular dystrophy, limb-girdle, autosomal dominant 4", "OMIM:618129": "Calpain-3-related limb-girdle muscular dystrophy R1/Muscular dystrophy, limb-girdle, autosomal dominant 4", "OMIM:609049": "Pierson syndrome", "ORPHA:2671": "Neu-Laxova syndrome/Neu-Laxova syndrome 1", "OMIM:256520": "Neu-Laxova syndrome/Neu-Laxova syndrome 1", "ORPHA:2672": "Neuhauser-Eichner-Opitz syndrome", "ORPHA:2673": "Neurofaciodigitorenal syndrome", "ORPHA:2678": "Neurofibromatosis type 6/Cafe-Au-Lait spots, multiple", "OMIM:114030": "Neurofibromatosis type 6/Cafe-Au-Lait spots, multiple", "ORPHA:26790": "Pseudomyxoma peritonei", "CCRD:34.2": "多种酰基辅酶 A 脱氢酶缺乏症/Glutaric acidemia II; Glutaricaciduria II; GA-II; Multiple acyl-CoA dehydrogenase deficiency; MADD/Multiple acyl-CoA dehydrogenase deficiency/Multiple acyl-CoA-dehydrogenase deficiency", "ORPHA:26791": "多种酰基辅酶 A 脱氢酶缺乏症/Glutaric acidemia II; Glutaricaciduria II; GA-II; Multiple acyl-CoA dehydrogenase deficiency; MADD/Multiple acyl-CoA dehydrogenase deficiency/Multiple acyl-CoA-dehydrogenase deficiency", "OMIM:231680": "多种酰基辅酶 A 脱氢酶缺乏症/Glutaric acidemia II; Glutaricaciduria II; GA-II; Multiple acyl-CoA dehydrogenase deficiency; MADD/Multiple acyl-CoA dehydrogenase deficiency/Multiple acyl-CoA-dehydrogenase deficiency", "ORPHA:26792": "Short chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, short-chain, deficiency of", "OMIM:201470": "Short chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, short-chain, deficiency of", "CCRD:116": "极长链酰基辅酶 A 脱氢酶缺乏症/Very long chain acyl-CoA dehydrogenasedeficiency; VLCADD/Very long chain acyl-CoA dehydrogenase deficiency/Very long-chain acyl-CoA dehydrogenase deficiency", "ORPHA:26793": "极长链酰基辅酶 A 脱氢酶缺乏症/Very long chain acyl-CoA dehydrogenasedeficiency; VLCADD/Very long chain acyl-CoA dehydrogenase deficiency/Very long-chain acyl-CoA dehydrogenase deficiency", "OMIM:201475": "极长链酰基辅酶 A 脱氢酶缺乏症/Very long chain acyl-CoA dehydrogenasedeficiency; VLCADD/Very long chain acyl-CoA dehydrogenase deficiency/Very long-chain acyl-CoA dehydrogenase deficiency", "ORPHA:268": "Dysferlin-related limb-girdle muscular dystrophy R2/Muscular dystrophy, limb-girdle, type 2B", "OMIM:253601": "Dysferlin-related limb-girdle muscular dystrophy R2/Muscular dystrophy, limb-girdle, type 2B", "ORPHA:2680": "Hypomyelination neuropathy-arthrogryposis syndrome", "OMIM:614470": "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic", "ORPHA:114": "Auriculoosteodysplasia/AURICULOOSTEODYSPLASIA", "OMIM:109000": "Auriculoosteodysplasia/AURICULOOSTEODYSPLASIA", "ORPHA:268249": "Mycophenolate mofetil embryopathy", "ORPHA:1143": "Neurogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita, Neurogenic type", "OMIM:208100": "Neurogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita, Neurogenic type", "ORPHA:2686": "Cyclic neutropenia/Cyclic neutropenia", "OMIM:162800": "Cyclic neutropenia/Cyclic neutropenia", "ORPHA:1144": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome/Arthrogryposis-Like hand anomaly and sensorineural deafness", "OMIM:108200": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome/Arthrogryposis-Like hand anomaly and sensorineural deafness", "ORPHA:2688": "Adult idiopathic neutropenia/Neutropenia, nonimmune chronic idiopathic, of adults", "OMIM:607847": "Adult idiopathic neutropenia/Neutropenia, nonimmune chronic idiopathic, of adults", "ORPHA:268810": "Posterior meningocele", "ORPHA:1145": "Infantile-onset X-linked spinal muscular atrophy/Spinal muscular atrophy, X-linked 2", "OMIM:301830": "Infantile-onset X-linked spinal muscular atrophy/Spinal muscular atrophy, X-linked 2", "ORPHA:1146": "Distal arthrogryposis type 1/Arthrogryposis, distal, type 1A", "OMIM:108120": "Distal arthrogryposis type 1/Arthrogryposis, distal, type 1A", "ORPHA:268882": "Arnold-Chiari malformation type I/Chiari malformation type I", "OMIM:118420": "Arnold-Chiari malformation type I/Chiari malformation type I", "ORPHA:268940": "Bilateral polymicrogyria", "ORPHA:268943": "Unilateral polymicrogyria", "ORPHA:1147": "Sheldon-Hall syndrome/Arthrogryposis, distal, type 2B", "OMIM:601680": "Sheldon-Hall syndrome/Arthrogryposis, distal, type 2B", "OMIM:607341": "Focal cortical dysplasia of taylor", "ORPHA:269": "Facioscapulohumeral dystrophy", "ORPHA:2690": "Neutropenia-monocytopenia-deafness syndrome", "ORPHA:1149": "Kuskokwim syndrome", "OMIM:614688": "Pontine tegmental cap dysplasia", "ORPHA:115": "Congenital contractural arachnodactyly/Contractural arachnodactyly, congenital", "OMIM:121050": "Congenital contractural arachnodactyly/Contractural arachnodactyly, congenital", "ORPHA:2695": "Bifid nose", "OMIM:236600": "Hydrocephalus, nonsyndromic, autosomal recessive 1", "ORPHA:1150": "Arthrogryposis multiplex congenita-whistling face syndrome/Arthrogryposis multiplex congenita with whistling face", "OMIM:208155": "Arthrogryposis multiplex congenita-whistling face syndrome/Arthrogryposis multiplex congenita with whistling face", "ORPHA:2698": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome/Bart-Pumphrey syndrome", "OMIM:149200": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome/Bart-Pumphrey syndrome", "OMIM:151630": "Lip, median nodule of upper", "ORPHA:27": "Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency", "OMIM:251000": "Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency", "ORPHA:270": "Oculopharyngeal muscular dystrophy/Oculopharyngeal muscular dystrophy", "OMIM:164300": "Oculopharyngeal muscular dystrophy/Oculopharyngeal muscular dystrophy", "ORPHA:1154": "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome/Arthrogryposis, distal, type 5", "OMIM:108145": "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome/Arthrogryposis, distal, type 5", "ORPHA:2701": "Noonan syndrome-like disorder with loose anagen hair", "ORPHA:2703": "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome", "ORPHA:2704": "Ochoa syndrome/Urofacial syndrome", "OMIM:236730": "Ochoa syndrome/Urofacial syndrome", "ORPHA:2707": "Oculocerebrofacial syndrome, Kaufman type/Kaufman oculocerebrofacial syndrome", "OMIM:244450": "Oculocerebrofacial syndrome, Kaufman type/Kaufman oculocerebrofacial syndrome", "OMIM:180900": "Rutherfurd syndrome", "ORPHA:2710": "Oculodentodigital dysplasia/Oculodentodigital dysplasia", "OMIM:164200": "Oculodentodigital dysplasia/Oculodentodigital dysplasia", "ORPHA:2712": "Oculofaciocardiodental syndrome", "ORPHA:2714": "Oculo-palato-cerebral syndrome/Oculopalatocerebral syndrome", "OMIM:257910": "Oculo-palato-cerebral syndrome/Oculopalatocerebral syndrome", "ORPHA:1159": "Progressive pseudorheumatoid arthropathy of childhood/Arthropathy, progressive pseudorheumatoid, of childhood", "OMIM:208230": "Progressive pseudorheumatoid arthropathy of childhood/Arthropathy, progressive pseudorheumatoid, of childhood", "ORPHA:2715": "Severe oculo-renal-cerebellar syndrome/Oculorenocerebellar syndrome", "OMIM:257970": "Severe oculo-renal-cerebellar syndrome/Oculorenocerebellar syndrome", "ORPHA:2717": "Oculotrichoanal syndrome/Manitoba oculotrichoanal syndrome", "OMIM:248450": "Oculotrichoanal syndrome/Manitoba oculotrichoanal syndrome", "ORPHA:116": "Beckwith-Wiedemann syndrome/Beckwith-Wiedemann syndrome", "OMIM:130650": "Beckwith-Wiedemann syndrome/Beckwith-Wiedemann syndrome", "ORPHA:2719": "Oculocerebral hypopigmentation syndrome, Cross type/Oculocerebral syndrome with hypopigmentation", "OMIM:257800": "Oculocerebral hypopigmentation syndrome, Cross type/Oculocerebral syndrome with hypopigmentation", "ORPHA:272": "Congenital muscular dystrophy, Fukuyama type", "ORPHA:2720": "Oculocerebral hypopigmentation syndrome, Preus type", "OMIM:257980": "Odontoonychodermal dysplasia", "ORPHA:2722": "Odonto-onycho dysplasia-alopecia syndrome", "OMIM:273400": "Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities", "ORPHA:2724": "Odontomatosis-aortae esophagus stenosis syndrome", "ORPHA:2725": "Eye defects-arachnodactyly-cardiopathy syndrome/Al-Gazali syndrome", "OMIM:609465": "Eye defects-arachnodactyly-cardiopathy syndrome/Al-Gazali syndrome", "ORPHA:2728": "Blepharophimosis-intellectual disability syndrome, Ohdo type/Ohdo syndrome", "OMIM:249620": "Blepharophimosis-intellectual disability syndrome, Ohdo type/Ohdo syndrome", "ORPHA:1160": "Chylous ascites/Ascites, chylous", "OMIM:208300": "Chylous ascites/Ascites, chylous", "ORPHA:2729": "Okamoto syndrome", "ORPHA:273": "Steinert myotonic dystrophy/Myotonic dystrophy 1", "OMIM:160900": "Steinert myotonic dystrophy/Myotonic dystrophy 1", "ORPHA:2730": "Postaxial tetramelic oligodactyly/Postaxial oligodactyly, tetramelic", "OMIM:176240": "Postaxial tetramelic oligodactyly/Postaxial oligodactyly, tetramelic", "ORPHA:2732": "Olivopontocerebellar atrophy-deafness syndrome", "ORPHA:2736": "Lethal omphalocele-cleft palate syndrome/Omphalocele-Cleft palate syndrome, lethal", "OMIM:258320": "Lethal omphalocele-cleft palate syndrome/Omphalocele-Cleft palate syndrome, lethal", "ORPHA:274": "Bernard-Soulier syndrome/Bernard-Soulier syndrome", "OMIM:231200": "Bernard-Soulier syndrome/Bernard-Soulier syndrome", "ORPHA:2741": "Ophthalmomandibulomelic dysplasia/Ophthalmomandibulomelic dysplasia", "OMIM:164900": "Ophthalmomandibulomelic dysplasia/Ophthalmomandibulomelic dysplasia", "ORPHA:2743": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome/Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency", "OMIM:165150": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome/Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency", "ORPHA:2744": "Horizontal gaze palsy with progressive scoliosis/Gaze palsy, familial horizontal, with progressive scoliosis, 1", "OMIM:607313": "Horizontal gaze palsy with progressive scoliosis/Gaze palsy, familial horizontal, with progressive scoliosis, 1", "ORPHA:2745": "Opitz GBBB syndrome", "ORPHA:2746": "Opsismodysplasia/Opsismodysplasia", "OMIM:258480": "Opsismodysplasia/Opsismodysplasia", "ORPHA:275": "Severe combined immunodeficiency due to DCLRE1C deficiency", "ORPHA:2750": "Orofaciodigital syndrome type 1/Orofaciodigital syndrome I", "OMIM:311200": "Orofaciodigital syndrome type 1/Orofaciodigital syndrome I", "ORPHA:2751": "Orofaciodigital syndrome type 2/Mohr syndrome", "OMIM:252100": "Orofaciodigital syndrome type 2/Mohr syndrome", "ORPHA:2752": "Orofaciodigital syndrome type 3/Orofaciodigital syndrome III", "OMIM:258850": "Orofaciodigital syndrome type 3/Orofaciodigital syndrome III", "ORPHA:2753": "Orofaciodigital syndrome type 4/Orofaciodigital syndrome IV", "OMIM:258860": "Orofaciodigital syndrome type 4/Orofaciodigital syndrome IV", "ORPHA:1164": "Allergic bronchopulmonary aspergillosis", "ORPHA:2754": "Orofaciodigital syndrome type 6/Orofaciodigital syndrome VI", "OMIM:277170": "Orofaciodigital syndrome type 6/Orofaciodigital syndrome VI", "OMIM:300484": "Orofaciodigital syndrome VIII", "OMIM:607271": "Autoimmune lymphoproliferative syndrome, type IIB", "OMIM:614160": "Muscle hypertrophy", "ORPHA:275543": "L1 syndrome", "ORPHA:275555": "Preeclampsia/Preeclampsia/eclampsia 1", "OMIM:189800": "Preeclampsia/Preeclampsia/eclampsia 1", "ORPHA:2756": "Orofaciodigital syndrome type 10/Orofaciodigital syndrome X", "OMIM:165590": "Orofaciodigital syndrome type 10/Orofaciodigital syndrome X", "ORPHA:1166": "Congenital unilateral hypoplasia of depressor anguli oris/Cayler cardiofacial syndrome", "OMIM:125520": "Congenital unilateral hypoplasia of depressor anguli oris/Cayler cardiofacial syndrome", "CCRD:66": "溶酶体酸性脂肪酶缺乏症/Lysosomal acid lipase deficiency; LALD/Lysosomal acid lipase deficiency/Lysosomal acid lipase deficiency", "ORPHA:275761": "溶酶体酸性脂肪酶缺乏症/Lysosomal acid lipase deficiency; LALD/Lysosomal acid lipase deficiency/Lysosomal acid lipase deficiency", "OMIM:278000": "溶酶体酸性脂肪酶缺乏症/Lysosomal acid lipase deficiency; LALD/Lysosomal acid lipase deficiency/Lysosomal acid lipase deficiency", "ORPHA:275766": "Idiopathic pulmonary arterial hypertension", "ORPHA:1168": "Ataxia-oculomotor apraxia type 1/Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "OMIM:208920": "Ataxia-oculomotor apraxia type 1/Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "ORPHA:275864": "Behavioral variant of frontotemporal dementia", "ORPHA:275872": "Frontotemporal dementia with motor neuron disease", "ORPHA:117": "Behçet disease/Behcet syndrome", "OMIM:109650": "Behçet disease/Behcet syndrome", "ORPHA:2759": "Imperforate oropharynx-costovertebral anomalies syndrome", "ORPHA:276": "T-B+ severe combined immunodeficiency due to gamma chain deficiency/Severe combined immunodeficiency, X-linked", "OMIM:300400": "T-B+ severe combined immunodeficiency due to gamma chain deficiency/Severe combined immunodeficiency, X-linked", "ORPHA:2760": "OSLAM syndrome/Oslam syndrome", "OMIM:165660": "OSLAM syndrome/Oslam syndrome", "ORPHA:1170": "Autosomal recessive cerebelloparenchymal disorder type 3/Spinocerebellar ataxia, autosomal recessive 2", "OMIM:213200": "Autosomal recessive cerebelloparenchymal disorder type 3/Spinocerebellar ataxia, autosomal recessive 2", "ORPHA:276152": "Multiple endocrine neoplasia type 4/Multiple endocrine neoplasia, type IV", "OMIM:610755": "Multiple endocrine neoplasia type 4/Multiple endocrine neoplasia, type IV", "ORPHA:276183": "Spinocerebellar ataxia type 32/Spinocerebellar ataxia 32", "OMIM:613909": "Spinocerebellar ataxia type 32/Spinocerebellar ataxia 32", "ORPHA:276193": "Spinocerebellar ataxia type 35/Spinocerebellar ataxia 35", "OMIM:613908": "Spinocerebellar ataxia type 35/Spinocerebellar ataxia 35", "ORPHA:276198": "Spinocerebellar ataxia type 36/Spinocerebellar ataxia 36", "OMIM:614153": "Spinocerebellar ataxia type 36/Spinocerebellar ataxia 36", "ORPHA:2762": "Progressive osseous heteroplasia/Osseous heteroplasia, progressive", "OMIM:166350": "Progressive osseous heteroplasia/Osseous heteroplasia, progressive", "ORPHA:1171": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome/Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss", "OMIM:601338": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome/Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss", "ORPHA:276238": "Machado-Joseph disease type 1", "ORPHA:276241": "Machado-Joseph disease type 2", "ORPHA:276244": "Machado-Joseph disease type 3", "ORPHA:276280": "Hemihyperplasia-multiple lipomatosis syndrome", "OMIM:602361": "Gracile bone dysplasia", "ORPHA:276399": "Familial multinodular goiter/Goiter, multinodular 1", "OMIM:138800": "Familial multinodular goiter/Goiter, multinodular 1", "ORPHA:2764": "Osteochondritis dissecans", "OMIM:614156": "Hyperbiliverdinemia", "ORPHA:276413": "10q22.3q23.3 microdeletion syndrome/Chromosome 10q22.3-q23.2 deletion syndrome", "OMIM:612242": "10q22.3q23.3 microdeletion syndrome/Chromosome 10q22.3-q23.2 deletion syndrome", "ORPHA:276422": "10q22.3q23.3 microduplication syndrome", "ORPHA:276432": "Ogden syndrome/Ogden syndrome", "OMIM:300855": "Ogden syndrome/Ogden syndrome", "ORPHA:276435": "Lower motor neuron syndrome with late-adult onset/Spinal muscular atrophy, Jokela type", "OMIM:615048": "Lower motor neuron syndrome with late-adult onset/Spinal muscular atrophy, Jokela type", "ORPHA:276556": "Hyperinsulinism due to UCP2 deficiency", "ORPHA:276575": "Autosomal dominant hyperinsulinism due to SUR1 deficiency", "ORPHA:276580": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency", "ORPHA:1173": "Cerebellar ataxia-hypogonadism syndrome/Cerebellar ataxia and hypogonadotropic hypogonadism", "OMIM:212840": "Cerebellar ataxia-hypogonadism syndrome/Cerebellar ataxia and hypogonadotropic hypogonadism", "ORPHA:276608": "Non-insulinoma pancreatogenous hypoglycemia syndrome", "ORPHA:276621": "Sporadic pheochromocytoma/secreting paraganglioma", "ORPHA:276630": "Symptomatic form of Coffin-Lowry syndrome in female carriers", "ORPHA:2768": "Blount disease", "ORPHA:2769": "Familial osteodysplasia, Anderson type", "ORPHA:1174": "Cerebellar ataxia-ectodermal dysplasia syndrome", "ORPHA:277": "Severe combined immunodeficiency due to adenosine deaminase deficiency/Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "OMIM:102700": "Severe combined immunodeficiency due to adenosine deaminase deficiency/Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "ORPHA:2770": "Nasu-Hakola disease/Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "OMIM:221770": "Nasu-Hakola disease/Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", " OMIM:618193": "Nasu-Hakola disease/Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "ORPHA:2771": "Bruck syndrome/Bruck syndrome 1", "OMIM:259450": "Bruck syndrome/Bruck syndrome 1", "ORPHA:2772": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome/Osteogenesis imperfecta congenita, microcephaly, and cataracts", "OMIM:259410": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome/Osteogenesis imperfecta congenita, microcephaly, and cataracts", "ORPHA:2773": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome", "ORPHA:2774": "Multicentric carpo-tarsal osteolysis with or without nephropathy/Multicentric carpotarsal osteolysis syndrome", "OMIM:166300": "Multicentric carpo-tarsal osteolysis with or without nephropathy/Multicentric carpotarsal osteolysis syndrome", "ORPHA:2776": "Autosomal recessive distal osteolysis syndrome", "ORPHA:2777": "Osteomesopyknosis/OSTEOMESOPYKNOSIS", "OMIM:166450": "Osteomesopyknosis/OSTEOMESOPYKNOSIS", "ORPHA:2779": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome", "ORPHA:2780": "Osteopathia striata-cranial sclerosis syndrome/Osteopathia striata with cranial sclerosis", "OMIM:300373": "Osteopathia striata-cranial sclerosis syndrome/Osteopathia striata with cranial sclerosis", "ORPHA:100050": "Hereditary angioedema type 1/Angioedema, hereditary, 1", "OMIM:106100": "Hereditary angioedema type 1/Angioedema, hereditary, 1", "ORPHA:1175": "X-linked progressive cerebellar ataxia", "OMIM:607634": "Osteopetrosis, autosomal dominant 1", "ORPHA:2785": "Osteopetrosis with renal tubular acidosis/Osteopetrosis, autosomal recessive 3", "OMIM:259730": "Osteopetrosis with renal tubular acidosis/Osteopetrosis, autosomal recessive 3", "ORPHA:2786": "Osteoporosis-oculocutaneous hypopigmentation syndrome", "ORPHA:2787": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome", "ORPHA:2788": "Osteoporosis-pseudoglioma syndrome/Osteoporosis-pseudoglioma syndrome", "OMIM:259770": "Osteoporosis-pseudoglioma syndrome/Osteoporosis-pseudoglioma syndrome", "ORPHA:2789": "Lateral meningocele syndrome/Lateral meningocele syndrome", "OMIM:130720": "Lateral meningocele syndrome/Lateral meningocele syndrome", "ORPHA:2790": "Endosteal hyperostosis, Worth type/Hyperostosis, endosteal", "OMIM:144750": "Endosteal hyperostosis, Worth type/Hyperostosis, endosteal", "ORPHA:2791": "Otodental syndrome/Otodental dysplasia", "OMIM:166750": "Otodental syndrome/Otodental dysplasia", "ORPHA:2792": "Otofaciocervical syndrome/Otofaciocervical syndrome", "OMIM:166780": "Otofaciocervical syndrome/Otofaciocervical syndrome", "ORPHA:2793": "Otoonychoperoneal syndrome/Otoonychoperoneal syndrome", "OMIM:259780": "Otoonychoperoneal syndrome/Otoonychoperoneal syndrome", "ORPHA:2795": "Fowler urethral sphincter dysfunction syndrome", "ORPHA:2796": "Pachydermoperiostosis/Hypertrophic osteoarthropathy, primary, autosomal recessive 1", "OMIM:259100": "Pachydermoperiostosis/Hypertrophic osteoarthropathy, primary, autosomal recessive 1", "ORPHA:2798": "Pachygyria-intellectual disability-epilepsy syndrome/Pachygyria with mental retardation, seizures, and arachnoid cysts", "OMIM:600176": "Pachygyria-intellectual disability-epilepsy syndrome/Pachygyria with mental retardation, seizures, and arachnoid cysts", "ORPHA:279882": "Spasmus nutans", "ORPHA:279914": "Intermediate uveitis", "OMIM:251880": "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "OMIM:162830": "Neutrophilia, hereditary", "ORPHA:279947": "Postorgasmic illness syndrome", "ORPHA:28": "Vitamin B12-responsive methylmalonic acidemia", "ORPHA:1177": "Early-onset cerebellar ataxia with retained tendon reflexes", "ORPHA:280": "Wolf-Hirschhorn syndrome/Wolf-Hirschhorn syndrome", "OMIM:194190": "Wolf-Hirschhorn syndrome/Wolf-Hirschhorn syndrome", "OMIM:167300": "Paget disease, extramammary", "ORPHA:280062": "Calciphylaxis", "ORPHA:280071": "ALG11-CDG/Congenital disorder of glycosylation, type Ip", "OMIM:613661": "ALG11-CDG/Congenital disorder of glycosylation, type Ip", "ORPHA:2801": "Juvenile Paget disease/Paget disease of bone 5, juvenile-onset", "OMIM:239000": "Juvenile Paget disease/Paget disease of bone 5, juvenile-onset", "OMIM:613779": "Complement component 3 deficiency, autosomal recessive", "OMIM:615758": "Immunodeficiency 22", "OMIM:613646": "Methylmalonic aciduria, transient, due to transcobalamin receptor defect", "ORPHA:1178": "Ataxia-tapetoretinal degeneration syndrome", "ORPHA:2802": "X-linked sideroblastic anemia and spinocerebellar ataxia/Anemia, sideroblastic, and spinocerebellar ataxia", "OMIM:301310": "X-linked sideroblastic anemia and spinocerebellar ataxia/Anemia, sideroblastic, and spinocerebellar ataxia", "ORPHA:280200": "Microform holoprosencephaly", "ORPHA:1179": "Benign paroxysmal tonic upgaze of childhood with ataxia", "OMIM:608804": "Leukodystrophy, hypomyelinating, 2", "OMIM:612233": "Leukodystrophy, hypomyelinating, 4", "OMIM:260600": "Leukodystrophy, hypomyelinating, 3", "ORPHA:280333": "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9", "OMIM:613818": "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9", "ORPHA:280356": "PLIN1-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 4", "OMIM:613877": "PLIN1-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 4", "ORPHA:280365": "Autosomal semi-dominant severe lipodystrophic laminopathy", "ORPHA:118": "Beta-mannosidosis/Mannosidosis, beta", "OMIM:248510": "Beta-mannosidosis/Mannosidosis, beta", "ORPHA:280384": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "ORPHA:280397": "Familial Alzheimer-like prion disease", "ORPHA:2804": "W syndrome", "OMIM:614650": "Coenzyme Q10 deficiency, primary, 6", "OMIM:260370": "Pancreatic agenesis, congenital", "ORPHA:1180": "Ataxia-hypogonadism-choroidal dystrophy syndrome/Boucher-Neuhauser syndrome", "OMIM:215470": "Ataxia-hypogonadism-choroidal dystrophy syndrome/Boucher-Neuhauser syndrome", "OMIM:613869": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related", "OMIM:613398": "Warsaw breakage syndrome", "OMIM:614008": "Nestor-Guillermo progeria syndrome", "OMIM:614078": "Chondrodysplasia with joint dislocations, Gpapp type", "OMIM:260470": "Panencephalitis, subacute sclerosing", "OMIM:614018": "Epilepsy, progressive myoclonic, 6", "ORPHA:280633": "Multiple congenital anomalies-hypotonia-seizures syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 1", "OMIM:614080": "Multiple congenital anomalies-hypotonia-seizures syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 1", "ORPHA:1182": "Spastic ataxia with congenital miosis/Spastic ataxia 7, autosomal dominant", "OMIM:108650": "Spastic ataxia with congenital miosis/Spastic ataxia 7, autosomal dominant", "OMIM:614115": "Cortical malformations, occipital", "ORPHA:280651": "Acrodysostosis with multiple hormone resistance", "OMIM:614171": "Hermansky-Pudlak syndrome 9", "OMIM:602541": "Muscular dystrophy, congenital, megaconial type", "ORPHA:280679": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome/Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism", "OMIM:300845": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome/Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism", "ORPHA:2807": "Papilloma of choroid plexus/Papilloma of choroid plexus", "OMIM:260500": "Papilloma of choroid plexus/Papilloma of choroid plexus", "ORPHA:280763": "Severe intellectual disability and progressive spastic paraplegia", "ORPHA:280779": "Cutaneous collagenous vasculopathy", "ORPHA:280785": "Bullous diffuse cutaneous mastocytosis", "ORPHA:280794": "Pseudoxanthomatous diffuse cutaneous mastocytosis", "ORPHA:2808": "Laryngeal abductor paralysis/Laryngeal abductor paralysis", "OMIM:150260": "Laryngeal abductor paralysis/Laryngeal abductor paralysis", "ORPHA:1184": "Ataxia-photosensitivity-short stature syndrome", "OMIM:134200": "Facial palsy, familial recurrent peripheral", "ORPHA:280914": "Idiopathic anterior uveitis", "ORPHA:280921": "Idiopathic panuveitis", "ORPHA:1185": "Spinocerebellar ataxia-dysmorphism syndrome", "ORPHA:281": "Monosomy 5p/Cri-Du-Chat syndrome", "OMIM:123450": "Monosomy 5p/Cri-Du-Chat syndrome", "ORPHA:281090": "Syndromic recessive X-linked ichthyosis", "ORPHA:281122": "Self-improving collodion baby", "ORPHA:281127": "Acral self-healing collodion baby", "OMIM:607602": "Ichthyosis, cyclic, with epidermolytic hyperkeratosis", "ORPHA:1186": "Infantile-onset spinocerebellar ataxia/Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "OMIM:271245": "Infantile-onset spinocerebellar ataxia/Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "OMIM:609165": "Erythroderma, ichthyosiform, congenital reticular", "ORPHA:2812": "Parana hard skin syndrome/Parana hard-skin syndrome", "OMIM:260530": "Parana hard skin syndrome/Parana hard-skin syndrome", "ORPHA:281201": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome/Keratosis linearis with ichthyosis congenita and sclerosing keratoderma", "OMIM:601952": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome/Keratosis linearis with ichthyosis congenita and sclerosing keratoderma", "ORPHA:2815": "Spastic paraparesis-deafness syndrome/Spastic paraparesis and deafness", "OMIM:312910": "Spastic paraparesis-deafness syndrome/Spastic paraparesis and deafness", "ORPHA:1187": "Lethal ataxia with deafness and optic atrophy/Arts syndrome", "OMIM:301835": "Lethal ataxia with deafness and optic atrophy/Arts syndrome", "ORPHA:2818": "Spastic paraplegia-glaucoma-intellectual disability syndrome/Spastic paresis, glaucoma, and mental retardation", "OMIM:270850": "Spastic paraplegia-glaucoma-intellectual disability syndrome/Spastic paresis, glaucoma, and mental retardation", "ORPHA:2819": "Spastic paraplegia-facial-cutaneous lesions syndrome", "OMIM:600274": "Frontotemporal dementia", "ORPHA:2820": "Spastic paraplegia-nephritis-deafness syndrome/Spastic paraplegia, sensorineural deafness, mental retardation, and", "OMIM:182690": "Spastic paraplegia-nephritis-deafness syndrome/Spastic paraplegia, sensorineural deafness, mental retardation, and", "ORPHA:2821": "Spastic paraplegia-neuropathy-poikiloderma syndrome/Spastic paraplegia with neuropathy and poikiloderma", "OMIM:182815": "Spastic paraplegia-neuropathy-poikiloderma syndrome/Spastic paraplegia with neuropathy and poikiloderma", "ORPHA:282166": "Inherited Creutzfeldt-Jakob disease/Creutzfeldt-Jakob disease", "OMIM:123400": "Inherited Creutzfeldt-Jakob disease/Creutzfeldt-Jakob disease", "ORPHA:2822": "Autosomal recessive spastic paraplegia type 11/Spastic paraplegia 11, autosomal recessive", "OMIM:604360": "Autosomal recessive spastic paraplegia type 11/Spastic paraplegia 11, autosomal recessive", "ORPHA:2824": "Paraplegia-intellectual disability-hyperkeratosis syndrome/Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis", "OMIM:309560": "Paraplegia-intellectual disability-hyperkeratosis syndrome/Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis", "ORPHA:1188": "Ataxia-deafness-intellectual disability syndrome/Ataxia-Deafness-Retardation syndrome", "OMIM:208850": "Ataxia-deafness-intellectual disability syndrome/Ataxia-Deafness-Retardation syndrome", "OMIM:600331": "Parc syndrome", "ORPHA:2826": "Spastic paraplegia-precocious puberty syndrome", "CCRD:87": "帕金森病（青年型、早发型）/Young-onset Parkinson disease/Young-onset Parkinson disease", "ORPHA:2828": "帕金森病（青年型、早发型）/Young-onset Parkinson disease/Young-onset Parkinson disease", "ORPHA:2831": "Rhizomelic dysplasia, Patterson-Lowry type/Rhizomelic dysplasia, Patterson-Lowry type", "OMIM:601438": "Rhizomelic dysplasia, Patterson-Lowry type/Rhizomelic dysplasia, Patterson-Lowry type", "OMIM:600269": "Short tarsus with absence of lower eyelashes", "ORPHA:2833": "Stiff skin syndrome/Stiff skin syndrome", "OMIM:184900": "Stiff skin syndrome/Stiff skin syndrome", "ORPHA:2834": "Wrinkly skin syndrome/Wrinkly skin syndrome", "OMIM:278250": "Wrinkly skin syndrome/Wrinkly skin syndrome", "ORPHA:2835": "Pectus excavatum-macrocephaly-dysplastic nails syndrome/Pectus excavatum, macrocephaly, short stature, and dysplastic nails", "OMIM:600399": "Pectus excavatum-macrocephaly-dysplastic nails syndrome/Pectus excavatum, macrocephaly, short stature, and dysplastic nails", "ORPHA:2836": "PEHO syndrome/Peho syndrome", "OMIM:260565": "PEHO syndrome/Peho syndrome", "ORPHA:119": "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4/Muscular dystrophy, limb-girdle, type 2E", "OMIM:604286": "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4/Muscular dystrophy, limb-girdle, type 2E", "ORPHA:28378": "Tyrosinemia type 2/Tyrosine transaminase deficiency", "OMIM:276600": "Tyrosinemia type 2/Tyrosine transaminase deficiency", "ORPHA:2838": "Renal caliceal diverticuli-deafness syndrome", "ORPHA:2839": "Pelvis-shoulder dysplasia/Pelvis-Shoulder dysplasia", "OMIM:169550": "Pelvis-shoulder dysplasia/Pelvis-Shoulder dysplasia", "ORPHA:2840": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome/Pelvic dysplasia - arthrogryposis of lower limbs", "OMIM:602484": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome/Pelvic dysplasia - arthrogryposis of lower limbs", "ORPHA:2841": "Familial benign chronic pemphigus/Benign chronic pemphigus", "OMIM:169600": "Familial benign chronic pemphigus/Benign chronic pemphigus", "OMIM:245600": "Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "OMIM:614188": "Craniosynostosis and dental anomalies", "ORPHA:284160": "8q21.11 microdeletion syndrome/Chromosome 8q21.11 deletion syndrome", "OMIM:614230": "8q21.11 microdeletion syndrome/Chromosome 8q21.11 deletion syndrome", "ORPHA:1190": "Atelosteogenesis type I/Atelosteogenesis, type I", "OMIM:108720": "Atelosteogenesis type I/Atelosteogenesis, type I", "ORPHA:284180": "Xp22.13p22.2 duplication syndrome", "ORPHA:2842": "Penoscrotal transposition", "ORPHA:284227": "TEMPI syndrome", "OMIM:614228": "Charcot-marie-tooth disease, axonal, type 2O", "OMIM:614224": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis", "CCRD:56": "IgG4 相关性疾病/IgG4 related disease; IgG4-RD", "ORPHA:284271": "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome/Spinocerebellar ataxia, autosomal recessive 11", "OMIM:614229": "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome/Spinocerebellar ataxia, autosomal recessive 11", "ORPHA:284282": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency/Spinocerebellar ataxia, autosomal recessive 12", "OMIM:614322": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency/Spinocerebellar ataxia, autosomal recessive 12", "ORPHA:284289": "Adult-onset autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 10", "OMIM:613728": "Adult-onset autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 10", "ORPHA:2843": "Pentosuria/PENTOSURIA", "OMIM:260800": "Pentosuria/PENTOSURIA", "ORPHA:1192": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome/Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease", "OMIM:209010": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome/Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease", "ORPHA:284324": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 7", "OMIM:609270": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 7", "ORPHA:284332": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 6", "OMIM:608029": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 6", "ORPHA:284339": "Pontocerebellar hypoplasia type 7/Pontocerebellar hypoplasia, type 7", "OMIM:614969": "Pontocerebellar hypoplasia type 7/Pontocerebellar hypoplasia, type 7", "ORPHA:284400": "Small cell carcinoma of the bladder", "ORPHA:1193": "Atkin-Flaitz syndrome", "ORPHA:284417": "Phosphoserine aminotransferase deficiency, infantile/juvenile form/Phosphoserine aminotransferase deficiency", "OMIM:610992": "Phosphoserine aminotransferase deficiency, infantile/juvenile form/Phosphoserine aminotransferase deficiency", "ORPHA:284426": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency/Glycogen storage disease XI", "OMIM:612933": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency/Glycogen storage disease XI", "OMIM:614128": "Lactate dehydrogenase B deficiency", "ORPHA:2847": "Pericardial and diaphragmatic defect", "ORPHA:1194": "TMEM70-related mitochondrial encephalo-cardio-myopathy/Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2", "OMIM:614052": "TMEM70-related mitochondrial encephalo-cardio-myopathy/Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2", "ORPHA:2848": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome/Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome", "OMIM:208250": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome/Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome", "ORPHA:2849": "Perlman syndrome/Perlman syndrome", "OMIM:267000": "Perlman syndrome/Perlman syndrome", "OMIM:154700": "Marfan syndrome", "OMIM:610618": "Angioedema, hereditary, 3", "ORPHA:1195": "Congenital atransferrinemia/ATRANSFERRINEMIA", "OMIM:209300": "Congenital atransferrinemia/ATRANSFERRINEMIA", "ORPHA:284979": "Neonatal Marfan syndrome", "ORPHA:284984": "Aneurysm-osteoarthritis syndrome/Loeys-Dietz syndrome 3", "OMIM:613795": "Aneurysm-osteoarthritis syndrome/Loeys-Dietz syndrome 3", "ORPHA:285": "Hypermobile Ehlers-Danlos syndrome/Ehlers-danlos syndrome, Hypermobility type", "OMIM:130020": "Hypermobile Ehlers-Danlos syndrome/Ehlers-danlos syndrome, Hypermobility type", "ORPHA:2850": "Alopecia-intellectual disability syndrome/Alopecia-Mental retardation syndrome 1", "OMIM:203650": "Alopecia-intellectual disability syndrome/Alopecia-Mental retardation syndrome 1", "OMIM:228930": "Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly", "OMIM:233400": "Perrault syndrome 1", "ORPHA:2856": "Persistent Müllerian duct syndrome/Persistent mullerian duct syndrome, types I and II", "OMIM:261550": "Persistent Müllerian duct syndrome/Persistent mullerian duct syndrome, types I and II", "ORPHA:1198": "Colonic atresia", "ORPHA:286": "Vascular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, Vascular type", "OMIM:130050": "Vascular Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, Vascular type", "ORPHA:2863": "Short stature-wormian bones-dextrocardia syndrome", "ORPHA:2865": "Short stature-webbed neck-heart disease syndrome", "ORPHA:2866": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "ORPHA:2867": "Short stature, Brussels type", "ORPHA:2868": "Short stature-valvular heart disease-characteristic facies syndrome", "CCRD:89": "黑斑息肉综合征/Peutz-Jeghers syndrome; PJS/Peutz-Jeghers syndrome/Peutz-Jeghers syndrome", "ORPHA:2869": "黑斑息肉综合征/Peutz-Jeghers syndrome; PJS/Peutz-Jeghers syndrome/Peutz-Jeghers syndrome", "OMIM:175200": "黑斑息肉综合征/Peutz-Jeghers syndrome; PJS/Peutz-Jeghers syndrome/Peutz-Jeghers syndrome", "ORPHA:287": "Classical Ehlers-Danlos syndrome/Ehlers-danlos syndrome, type I", "OMIM:130000": "Classical Ehlers-Danlos syndrome/Ehlers-danlos syndrome, type I", "ORPHA:2871": "Pfeiffer-Palm-Teller syndrome", "ORPHA:2872": "Cardiocranial syndrome, Pfeiffer type", "ORPHA:1199": "Esophageal atresia/Tracheoesophageal fistula with or without esophageal atresia", "OMIM:189960": "Esophageal atresia/Tracheoesophageal fistula with or without esophageal atresia", "ORPHA:2875": "Phakomatosis pigmentovascularis", "ORPHA:2876": "PHAVER syndrome", "ORPHA:2878": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome/Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia", "OMIM:171480": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome/Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia", "ORPHA:2879": "Phocomelia, Schinzel type/Ulna and fibula, absence of, with severe limb deficiency", "OMIM:276820": "Phocomelia, Schinzel type/Ulna and fibula, absence of, with severe limb deficiency", "ORPHA:288": "Hereditary elliptocytosis", "OMIM:219095": "Cutaneous photosensitivity and colitis, lethal", "CCRD:108": "谷固醇血症/Sitosterolemia; Phytosterolemia/Sitosterolemia 1", "OMIM:210250": "谷固醇血症/Sitosterolemia; Phytosterolemia/Sitosterolemia 1", "ORPHA:2884": "Piebaldism/Piebald trait", "OMIM:172800": "Piebaldism/Piebald trait", "ORPHA:1200": "Burn-McKeown syndrome/Burn-Mckeown syndrome", "OMIM:608572": "Burn-McKeown syndrome/Burn-Mckeown syndrome", "ORPHA:2885": "Piebald trait-neurologic defects syndrome/Piebald trait with neurologic defects", "OMIM:172850": "Piebald trait-neurologic defects syndrome/Piebald trait with neurologic defects", "ORPHA:2886": "TARP syndrome/Tarp syndrome", "OMIM:311900": "TARP syndrome/Tarp syndrome", "OMIM:311895": "Pierre Robin sequence with facial and digital anomalies", "ORPHA:2889": "Pili torti/Pili torti, early-onset", "OMIM:261900": "Pili torti/Pili torti, early-onset", "ORPHA:289": "Ellis Van Creveld syndrome/Ellis-Van creveld syndrome", "OMIM:225500": "Ellis Van Creveld syndrome/Ellis-Van creveld syndrome", "ORPHA:2890": "Pili torti-onychodysplasia syndrome", "ORPHA:2891": "Pili torti-developmental delay-neurological abnormalities syndrome/Abnormal hair, joint laxity, and developmental delay", "OMIM:261990": "Pili torti-developmental delay-neurological abnormalities syndrome/Abnormal hair, joint laxity, and developmental delay", "ORPHA:289157": "Hypocalcemic vitamin D-dependent rickets/Vitamin D hydroxylation-deficient rickets, type 1A", "OMIM:264700": "Hypocalcemic vitamin D-dependent rickets/Vitamin D hydroxylation-deficient rickets, type 1A", "ORPHA:1201": "Atresia of small intestine/Jejunal atresia", "OMIM:243600": "Atresia of small intestine/Jejunal atresia", "ORPHA:289176": "Autosomal recessive hypophosphatemic rickets", "ORPHA:289266": "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation", "OMIM:614300": "Hypermethioninemia due to adenosine kinase deficiency", "OMIM:614105": "Methylmalonate semialdehyde dehydrogenase deficiency", "OMIM:159580": "Myelopathy, htlv-1-associated", "ORPHA:1202": "Larynx atresia/Larynx, congenital partial atresia of", "OMIM:150300": "Larynx atresia/Larynx, congenital partial atresia of", "OMIM:611705": "Congenital myopathy 5 with cardiomyopathy", "OMIM:255600": "Myosclerosis, autosomal recessive", "ORPHA:289390": "Primary Sjögren syndrome/Sjogren syndrome", "OMIM:270150": "Primary Sjögren syndrome/Sjogren syndrome", "OMIM:136000": "Fingerprints, absence of", "ORPHA:289483": "Intellectual disability-alacrima-achalasia syndrome/Mental retardation, X-linked, syndromic 17", "OMIM:300858": "Intellectual disability-alacrima-achalasia syndrome/Mental retardation, X-linked, syndromic 17", "OMIM:269400": "Corneal opacification with other ocular anomalies", "ORPHA:289504": "Combined malonic and methylmalonic acidemia/Combined malonic and methylmalonic aciduria", "OMIM:614265": "Combined malonic and methylmalonic acidemia/Combined malonic and methylmalonic aciduria", "ORPHA:1203": "Duodenal atresia/Duodenal atresia", "OMIM:223400": "Duodenal atresia/Duodenal atresia", "ORPHA:289522": "Microtriplication 11q24.1", "OMIM:614327": "Tumor predisposition syndrome", "ORPHA:289548": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency", "OMIM:615102": "Tyshchenko syndrome", "ORPHA:289560": "Mitochondrial membrane protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 4", "OMIM:614298": "Mitochondrial membrane protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 4", "ORPHA:289596": "Juvenile nasopharyngeal angiofibroma", "ORPHA:2896": "Pitt-Hopkins syndrome/Pitt-Hopkins syndrome", "OMIM:610954": "Pitt-Hopkins syndrome/Pitt-Hopkins syndrome", "ORPHA:289601": "Hereditary arterial and articular multiple calcification syndrome/Calcification of joints and arteries", "OMIM:211800": "Hereditary arterial and articular multiple calcification syndrome/Calcification of joints and arteries", "OMIM:178370": "Pulmonary atresia with ventricular septal defect", "ORPHA:2897": "Pityriasis rubra pilaris/Pityriasis rubra pilaris", "OMIM:173200": "Pityriasis rubra pilaris/Pityriasis rubra pilaris", "ORPHA:2898": "X-linked intellectual disability-plagiocephaly syndrome", "OMIM:266130": "Glutathione synthetase deficiency", "OMIM:231900": "Hemolytic anemia due to glutathione synthetase deficiency", "ORPHA:1208": "Pulmonary atresia-intact ventricular septum syndrome/Pulmonary atresia with intact ventricular septum", "OMIM:265150": "Pulmonary atresia-intact ventricular septum syndrome/Pulmonary atresia with intact ventricular septum", "OMIM:606664": "GLYCINE N-METHYLTRANSFERASE DEFICIENCY", "OMIM:601216": "Dental anomalies and short stature", "ORPHA:289916": "Vitamin B12-unresponsive methylmalonic acidemia type mut0", "ORPHA:29": "Mevalonic aciduria/Mevalonic aciduria", "OMIM:610377": "Mevalonic aciduria/Mevalonic aciduria", "ORPHA:290": "Congenital rubella syndrome", "ORPHA:1209": "Tricuspid atresia", "ORPHA:2900": "Leri pleonosteosis/Chromosome 8q22.1 duplication syndrome", "OMIM:151200": "Leri pleonosteosis/Chromosome 8q22.1 duplication syndrome", "ORPHA:2901": "Neuralgic amyotrophy", "ORPHA:2903": "Familial spontaneous pneumothorax/Pneumothorax, primary spontaneous", "OMIM:173600": "Familial spontaneous pneumothorax/Pneumothorax, primary spontaneous", "CCRD:91": "POEMS 综合征/POEMS syndrome/POEMS syndrome", "ORPHA:2905": "POEMS 综合征/POEMS syndrome/POEMS syndrome", "ORPHA:2907": "Hereditary acrokeratotic poikiloderma", "ORPHA:29072": "Hereditary pheochromocytoma-paraganglioma", "ORPHA:29073": "Multiple myeloma/Multiple myeloma", "OMIM:254500": "Multiple myeloma/Multiple myeloma", "ORPHA:2908": "Kindler epidermolysis bullosa", "ORPHA:1214": "Progressive hemifacial atrophy/Hemifacial atrophy, progressive", "OMIM:141300": "Progressive hemifacial atrophy/Hemifacial atrophy, progressive", "ORPHA:2909": "Rothmund-Thomson syndrome/Rothmund-Thomson syndrome", "OMIM:268400": "Rothmund-Thomson syndrome/Rothmund-Thomson syndrome", "ORPHA:291": "Congenital varicella syndrome", "ORPHA:2911": "Poland syndrome/Poland syndrome", "OMIM:173800": "Poland syndrome/Poland syndrome", "ORPHA:2916": "Postaxial polydactyly-dental and vertebral anomalies syndrome", "ORPHA:2917": "Polydactyly-myopia syndrome/Polydactyly, postaxial, with progressive myopia", "OMIM:174310": "Polydactyly-myopia syndrome/Polydactyly, postaxial, with progressive myopia", "ORPHA:1215": "Autosomal dominant optic atrophy plus syndrome", "ORPHA:2919": "Orofaciodigital syndrome type 5/Orofaciodigital syndrome V", "OMIM:174300": "Orofaciodigital syndrome type 5/Orofaciodigital syndrome V", "ORPHA:292": "Congenital enterovirus infection", "ORPHA:2920": "Oliver syndrome/Oliver syndrome", "OMIM:258200": "Oliver syndrome/Oliver syndrome", "ORPHA:29207": "Reactive arthritis", "ORPHA:2921": "Preaxial polydactyly-colobomata-intellectual disability syndrome", "ORPHA:2924": "Isolated polycystic liver disease/Polycystic liver disease 1 with or without kidney cysts", "OMIM:174050": "Isolated polycystic liver disease/Polycystic liver disease 1 with or without kidney cysts", "ORPHA:2926": "Digital extensor muscle aplasia-polyneuropathy/Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy", "OMIM:207740": "Digital extensor muscle aplasia-polyneuropathy/Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy", "ORPHA:2928": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "ORPHA:2929": "Juvenile polyposis syndrome/Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome", "OMIM:175050": "Juvenile polyposis syndrome/Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome", "ORPHA:293": "Congenital herpes simplex virus infection", "ORPHA:1216": "Autosomal dominant congenital benign spinal muscular atrophy/Neuronopathy, distal hereditary motor, type VIII", "OMIM:600175": "Autosomal dominant congenital benign spinal muscular atrophy/Neuronopathy, distal hereditary motor, type VIII", "ORPHA:2930": "Cronkhite-Canada syndrome/Polyposis, skin pigmentation, alopecia, and fingernail changes", "OMIM:175500": "Cronkhite-Canada syndrome/Polyposis, skin pigmentation, alopecia, and fingernail changes", "OMIM:607655": "Skin fragility-woolly hair syndrome", "ORPHA:293168": "Infantile-onset ascending hereditary spastic paralysis/Spastic paralysis, infantile-onset ascending", "OMIM:607225": "Infantile-onset ascending hereditary spastic paralysis/Spastic paralysis, infantile-onset ascending", "ORPHA:2932": "Chronic inflammatory demyelinating polyneuropathy", "ORPHA:293381": "Epithelial recurrent erosion dystrophy/Epithelial recurrent erosion dystrophy", "OMIM:122400": "Epithelial recurrent erosion dystrophy/Epithelial recurrent erosion dystrophy", "OMIM:263630": "Polysyndactyly with cardiac malformation", "ORPHA:2935": "Crossed polysyndactyly", "ORPHA:293603": "Congenital hereditary endothelial dystrophy type II/Corneal endothelial dystrophy, autosomal recessive", "OMIM:217700": "Congenital hereditary endothelial dystrophy type II/Corneal endothelial dystrophy, autosomal recessive", "ORPHA:293621": "X-linked endothelial corneal dystrophy/Corneal dystrophy, endothelial, X-linked", "OMIM:300779": "X-linked endothelial corneal dystrophy/Corneal dystrophy, endothelial, X-linked", "ORPHA:122": "Birt-Hogg-Dubé syndrome/Birt-Hogg-Dube syndrome", "OMIM:135150": "Birt-Hogg-Dubé syndrome/Birt-Hogg-Dube syndrome", "OMIM:614438": "Cutis laxa, autosomal recessive, type IIIB", "ORPHA:293707": "Blepharophimosis-intellectual disability syndrome, MKB type/Ohdo syndrome, X-linked", "OMIM:300895": "Blepharophimosis-intellectual disability syndrome, MKB type/Ohdo syndrome, X-linked", "ORPHA:293725": "Blepharophimosis-intellectual disability syndrome, Verloes type/Blepharophimosis with facial and genital anomalies and mental retardation", "OMIM:604314": "Blepharophimosis-intellectual disability syndrome, Verloes type/Blepharophimosis with facial and genital anomalies and mental retardation", "ORPHA:293807": "Ketamine-induced biliary dilatation", "OMIM:614456": "Melanoma, cutaneous malignant, susceptibility to, 8", "OMIM:613673": "Anemia, dyserythropoietic congenital, type IV", "ORPHA:1221": "Cheilitis glandularis", "ORPHA:293843": "3MC syndrome", "OMIM:600996": "Arrhythmogenic right ventricular dysplasia, familial, 2", "OMIM:614416": "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies", "OMIM:614303": "Edict syndrome", "ORPHA:293939": "Distal Xq28 microduplication syndrome", "ORPHA:293948": "1p21.3 microdeletion syndrome", "OMIM:614458": "Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)", "OMIM:614187": "Hypertelorism, preauricular sinus, punctal pits, and deafness", "ORPHA:293964": "Hypoinsulinemic hypoglycemia and body hemihypertrophy/Hypoinsulinemic hypoglycemia with hemihypertrophy", "OMIM:240900": "Hypoinsulinemic hypoglycemia and body hemihypertrophy/Hypoinsulinemic hypoglycemia with hemihypertrophy", "ORPHA:293967": "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "ORPHA:293978": "Deficiency in anterior pituitary function-variable immunodeficiency syndrome", "ORPHA:293987": "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "ORPHA:294": "Fetal cytomegalovirus syndrome", "ORPHA:2940": "Porencephaly", "OMIM:614261": "Microcephaly-Capillary malformation syndrome", "ORPHA:1225": "Baller-Gerold syndrome/Baller-Gerold syndrome", "OMIM:218600": "Baller-Gerold syndrome/Baller-Gerold syndrome", "OMIM:601322": "Porencephaly, cerebellar hypoplasia, and internal malformations", "ORPHA:2942": "Postpoliomyelitis syndrome", "OMIM:190680": "Triphalangeal thumbs with brachyectrodactyly", "ORPHA:1226": "Bamforth-Lazarus syndrome/Hypothyroidism, athyroidal, with spiky hair and cleft palate", "OMIM:241850": "Bamforth-Lazarus syndrome/Hypothyroidism, athyroidal, with spiky hair and cleft palate", "ORPHA:1227": "Bangstad syndrome/Bangstad syndrome", "OMIM:210740": "Bangstad syndrome/Bangstad syndrome", "ORPHA:1228": "Banki syndrome", "ORPHA:295": "Fetal parvovirus syndrome", "OMIM:217100": "Constricting bands, congenital", "ORPHA:1229": "Congenital intrauterine infection-like syndrome/Band-Like calcification with simplified gyration and polymicrogyria", "OMIM:251290": "Congenital intrauterine infection-like syndrome/Band-Like calcification with simplified gyration and polymicrogyria", "OMIM:114200": "Camptodactyly 1", "ORPHA:123": "Björnstad syndrome/Bjornstad syndrome", "OMIM:262000": "Björnstad syndrome/Bjornstad syndrome", "ORPHA:295036": "Congenital patella dislocation", "OMIM:274190": "Thumb agenesis, short stature, and immunodeficiency", "ORPHA:1231": "Barber-Say syndrome/Barber-Say syndrome", "OMIM:209885": "Barber-Say syndrome/Barber-Say syndrome", "OMIM:186000": "Synpolydactyly 1", "OMIM:608180": "Synpolydactyly 2", "OMIM:201550": "Adducted thumbs syndrome", "ORPHA:1234": "Bartsocas-Papas syndrome/Popliteal pterygium syndrome, Bartsocas-Papas type 1", "OMIM:263650": "Bartsocas-Papas syndrome/Popliteal pterygium syndrome, Bartsocas-Papas type 1", "ORPHA:1236": "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "ORPHA:2953": "Musculocontractural Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, musculocontractural type 1", "OMIM:601776": "Musculocontractural Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, musculocontractural type 1", "ORPHA:2956": "Acrodysplasia scoliosis", "OMIM:176305": "Preaxial deficiency, postaxial polydactyly, and hypospadias", "ORPHA:2958": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome/Prieto syndrome", "OMIM:309610": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome/Prieto syndrome", "ORPHA:2959": "Progeria-short stature-pigmented nevi syndrome/Progeroid short stature with pigmented nevi", "OMIM:176690": "Progeria-short stature-pigmented nevi syndrome/Progeroid short stature with pigmented nevi", "ORPHA:296": "Ollier disease/Enchondromatosis, multiple", "OMIM:166000": "Ollier disease/Enchondromatosis, multiple", "ORPHA:2962": "De Barsy syndrome", "ORPHA:2964": "Autosomal dominant prognathism/Prognathism, mandibular", "OMIM:176700": "Autosomal dominant prognathism/Prognathism, mandibular", "ORPHA:2965": "Prolactinoma", "ORPHA:1237": "Beemer-Ertbruggen syndrome/Beemer lethal malformation syndrome", "OMIM:209970": "Beemer-Ertbruggen syndrome/Beemer lethal malformation syndrome", "OMIM:312060": "Properdin deficiency, X-linked", "OMIM:193090": "Transcobalamin I deficiency", "ORPHA:2969": "Proteus-like syndrome", "ORPHA:2970": "Prune belly syndrome/Prune belly syndrome", "OMIM:100100": "Prune belly syndrome/Prune belly syndrome", "ORPHA:2971": "Peroxisomal acyl-CoA oxidase deficiency/Peroxisomal acyl-CoA oxidase deficiency", "OMIM:264470": "Peroxisomal acyl-CoA oxidase deficiency/Peroxisomal acyl-CoA oxidase deficiency", "ORPHA:2972": "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome/Teeth, noneruption of, with maxillary hypoplasia and genu valgum", "OMIM:273050": "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome/Teeth, noneruption of, with maxillary hypoplasia and genu valgum", "ORPHA:2973": "46,XX disorder of sex development-anorectal anomalies syndrome", "ORPHA:2975": "46,XX disorder of sex development-skeletal anomalies syndrome/Pseudohermaphroditism, female, with skeletal anomalies", "OMIM:264270": "46,XX disorder of sex development-skeletal anomalies syndrome/Pseudohermaphroditism, female, with skeletal anomalies", "CCRD:25": "先天性纯红细胞再生障碍性贫血/Blackfan-Diamond anemia; DBA/Blackfan-Diamond anemia/Diamond-Blackfan anemia 1", "ORPHA:124": "先天性纯红细胞再生障碍性贫血/Blackfan-Diamond anemia; DBA/Blackfan-Diamond anemia/Diamond-Blackfan anemia 1", "OMIM:105650": "先天性纯红细胞再生障碍性贫血/Blackfan-Diamond anemia; DBA/Blackfan-Diamond anemia/Diamond-Blackfan anemia 1", "ORPHA:2976": "Pseudoleprechaunism syndrome, Patterson type", "ORPHA:2978": "Chronic intestinal pseudoobstruction", "CCRD:72.5": "线粒体神经胃肠脑肌病（MINGIE）/Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE/Mitochondrial neurogastrointestinal encephalomyopathy", "ORPHA:298": "线粒体神经胃肠脑肌病（MINGIE）/Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE/Mitochondrial neurogastrointestinal encephalomyopathy", "ORPHA:2980": "Acrootoocular syndrome", "ORPHA:29822": "Spontaneous periodic hypothermia", "ORPHA:2983": "Disorder of sex development-intellectual disability syndrome", "ORPHA:2985": "Pseudoprogeria syndrome/Absent eyebrows and eyelashes with mental retardation", "OMIM:200130": "Pseudoprogeria syndrome/Absent eyebrows and eyelashes with mental retardation", "OMIM:178200": "Pterygium, antecubital", "ORPHA:1240": "Metaphyseal acroscyphodysplasia", "ORPHA:2988": "Pterygium colli-intellectual disability-digital anomalies syndrome", "ORPHA:2990": "Autosomal recessive multiple pterygium syndrome/Escobar syndrome", "OMIM:265000": "Autosomal recessive multiple pterygium syndrome/Escobar syndrome", "ORPHA:2994": "Short stature-craniofacial anomalies-genital hypoplasia syndrome/Pterygia, mental retardation, and distinctive craniofacial features", "OMIM:177980": "Short stature-craniofacial anomalies-genital hypoplasia syndrome/Pterygia, mental retardation, and distinctive craniofacial features", "ORPHA:2995": "Baraitser-Winter cerebrofrontofacial syndrome", "ORPHA:2997": "Ptosis-vocal cord paralysis syndrome/Vocal cord paralysis and ptosis", "OMIM:193240": "Ptosis-vocal cord paralysis syndrome/Vocal cord paralysis and ptosis", "OMIM:178330": "Ptosis, strabismus, and ectopic pupils", "ORPHA:30": "Hereditary orotic aciduria/Orotic aciduria", "OMIM:258900": "Hereditary orotic aciduria/Orotic aciduria", "OMIM:261515": "D-bifunctional protein deficiency", "ORPHA:3000": "Familial male-limited precocious puberty/Precocious puberty, male", "OMIM:176410": "Familial male-limited precocious puberty/Precocious puberty, male", "ORPHA:300179": "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 2", "OMIM:614557": "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency/Ehlers-Danlos syndrome, kyphoscoliotic type, 2", "ORPHA:1241": "Bencze syndrome/Hemifacial hyperplasia with strabismus", "OMIM:141350": "Bencze syndrome/Hemifacial hyperplasia with strabismus", "ORPHA:3002": "Immune thrombocytopenia/Thrombocytopenic purpura, autoimmune", "OMIM:188030": "Immune thrombocytopenia/Thrombocytopenic purpura, autoimmune", "OMIM:612394": "Bone fragility with contractures, arterial rupture, and deafness", "OMIM:614480": "Hypertriglyceridemia, transient infantile", "ORPHA:300298": "Severe congenital hypochromic anemia with ringed sideroblasts/Anemia, hypochromic microcytic, with iron overload 2", "OMIM:615234": "Severe congenital hypochromic anemia with ringed sideroblasts/Anemia, hypochromic microcytic, with iron overload 2", "ORPHA:3003": "Pyknoachondrogenesis/PYKNOACHONDROGENESIS", "OMIM:265880": "Pyknoachondrogenesis/PYKNOACHONDROGENESIS", "ORPHA:300305": "11p15.4 microduplication syndrome", "OMIM:614482": "Congenital cataracts, hearing loss, and neurodegeneration", "OMIM:614436": "Charcot-Marie-Tooth disease, axonal, type 2P", "OMIM:606445": "PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS", "OMIM:609057": "Nephropathy with pretibial epidermolysis bullosa and deafness", "ORPHA:1243": "Best vitelliform macular dystrophy/Macular dystrophy, vitelliform, 2", "OMIM:153700": "Best vitelliform macular dystrophy/Macular dystrophy, vitelliform, 2", "OMIM:614420": "Systemic lupus erythematosus 16", "OMIM:614468": "Familial cold autoinflammatory syndrome 3", "ORPHA:300373": "X-linked acrogigantism", "OMIM:616914": "Marfan lipodystrophy syndrome", "ORPHA:300385": "Pituitary carcinoma", "ORPHA:3004": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome", "ORPHA:300493": "Sagliker syndrome", "OMIM:300868": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "OMIM:265900": "Pyle disease", "OMIM:113400": "Brachydactyly-Nystagmus-Cerebellar ataxia", "OMIM:614495": "Pseudohypoaldosteronism, type IID", "OMIM:614496": "Pseudohypoaldosteronism, type IIE", "ORPHA:300536": "DDOST-CDG/Congenital disorder of glycosylation, type IR", "OMIM:614507": "DDOST-CDG/Congenital disorder of glycosylation, type IR", "OMIM:143880": "Hypercalcemia, infantile, 1", "ORPHA:300570": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation/Cortical dysplasia, complex, with other brain malformations 1", "OMIM:614039": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation/Cortical dysplasia, complex, with other brain malformations 1", "ORPHA:300573": "Polymicrogyria due to TUBB2B mutation", "OMIM:608615": "Oligodontia-colorectal cancer syndrome", "ORPHA:3006": "Pyridoxine-dependent epilepsy/Epilepsy, pyridoxine-dependent, Epilepsy, early-onset, vitamin b6-dependent", "OMIM:266100": "Pyridoxine-dependent epilepsy/Epilepsy, pyridoxine-dependent, Epilepsy, early-onset, vitamin b6-dependent", " OMIM:617290": "Pyridoxine-dependent epilepsy/Epilepsy, pyridoxine-dependent, Epilepsy, early-onset, vitamin b6-dependent", "ORPHA:300605": "Juvenile amyotrophic lateral sclerosis", "ORPHA:300751": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation/Cardiomyopathy, dilated, 1A", "OMIM:115200": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation/Cardiomyopathy, dilated, 1A", "ORPHA:1248": "Maxillonasal dysplasia/Maxillonasal dysplasia, Binder type", "OMIM:155050": "Maxillonasal dysplasia/Maxillonasal dysplasia, Binder type", "ORPHA:3008": "Pyruvate carboxylase deficiency/Pyruvate carboxylase deficiency", "OMIM:266150": "Pyruvate carboxylase deficiency/Pyruvate carboxylase deficiency", "ORPHA:125": "Bloom syndrome/Bloom syndrome", "OMIM:210900": "Bloom syndrome/Bloom syndrome", "ORPHA:3010": "Qazi-Markouizos syndrome", "ORPHA:3011": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome/Spastic quadriplegia, retinitis pigmentosa, and mental retardation", "OMIM:270950": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome/Spastic quadriplegia, retinitis pigmentosa, and mental retardation", "ORPHA:3015": "Radio-renal syndrome/Radial-Renal syndrome", "OMIM:179280": "Radio-renal syndrome/Radial-Renal syndrome", "ORPHA:3016": "Absent radius-anogenital anomalies syndrome/Radial aplasia, X-linked", "OMIM:312190": "Absent radius-anogenital anomalies syndrome/Radial aplasia, X-linked", "OMIM:277175": "Vascular hyalinosis", "ORPHA:3019": "Ramon syndrome/Ramon syndrome", "OMIM:266270": "Ramon syndrome/Ramon syndrome", "ORPHA:1252": "Blepharonasofacial malformation syndrome/Blepharonasofacial malformation syndrome", "OMIM:110050": "Blepharonasofacial malformation syndrome/Blepharonasofacial malformation syndrome", "ORPHA:302": "Epidermodysplasia verruciformis/Epidermodysplasia verruciformis, susceptibility to, 1, Epidermodysplasia verruciformis 2", "OMIM:226400": "Epidermodysplasia verruciformis/Epidermodysplasia verruciformis, susceptibility to, 1, Epidermodysplasia verruciformis 2", " OMIM:618231": "Epidermodysplasia verruciformis/Epidermodysplasia verruciformis, susceptibility to, 1, Epidermodysplasia verruciformis 2", "OMIM:266280": "RAPADILINO syndrome", "ORPHA:3023": "External auditory canal atresia-vertical talus-hypertelorism syndrome/External auditory canal, bilateral atresia of, with congenital verticaltalus", "OMIM:133705": "External auditory canal atresia-vertical talus-hypertelorism syndrome/External auditory canal, bilateral atresia of, with congenital verticaltalus", "OMIM:179270": "Radial ray hypoplasia with choanal atresia", "ORPHA:3027": "Caudal regression syndrome", "CCRD:39.3": "大疱性表皮松解症（营养不良型）/Dystrophic Epidermolysis bullosa; DEB", "ORPHA:3032": "NPHP3-related Meckel-like syndrome/Meckel syndrome, type 7", "OMIM:267010": "NPHP3-related Meckel-like syndrome/Meckel syndrome, type 7", "ORPHA:3033": "Renal tubular dysgenesis", "ORPHA:3034": "Delayed membranous cranial ossification/Membranous cranial ossification, delayed", "OMIM:155980": "Delayed membranous cranial ossification/Membranous cranial ossification, delayed", "ORPHA:1253": "Ascher syndrome/Blepharochalasis and double lip", "OMIM:109900": "Ascher syndrome/Blepharochalasis and double lip", "ORPHA:3035": "Growth delay-hydrocephaly-lung hypoplasia syndrome", "ORPHA:3038": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome/Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease", "OMIM:182875": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome/Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease", "ORPHA:30391": "Isolated biliary atresia/Biliary atresia, extrahepatic", "OMIM:210500": "Isolated biliary atresia/Biliary atresia, extrahepatic", "CCRD:39.1": "大疱性表皮松解症（单纯型）/Epidermolysis bullosa simplex; EBS", "ORPHA:3041": "Intellectual disability-balding-patella luxation-acromicria syndrome/Scholte syndrome", "OMIM:300977": "Intellectual disability-balding-patella luxation-acromicria syndrome/Scholte syndrome", "ORPHA:3042": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome/Primrose syndrome", "OMIM:259050": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome/Primrose syndrome", "ORPHA:3044": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome/Mental retardation syndrome, Belgian type", "OMIM:249599": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome/Mental retardation syndrome, Belgian type", "ORPHA:3047": "Blepharophimosis-intellectual disability syndrome, SBBYS type/Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant", "OMIM:603736": "Blepharophimosis-intellectual disability syndrome, SBBYS type/Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant", "CCRD:39.2": "大疱性表皮松解症（交界型）/Junctional epidermolysis bullosa; JEB", "ORPHA:1259": "Blepharoptosis-myopia-ectopia lentis syndrome/Blepharoptosis, myopia, and ectopia lentis", "OMIM:110150": "Blepharoptosis-myopia-ectopia lentis syndrome/Blepharoptosis, myopia, and ectopia lentis", "ORPHA:3051": "Nicolaides-Baraitser syndrome/Nicolaides-Baraitser syndrome", "OMIM:601358": "Nicolaides-Baraitser syndrome/Nicolaides-Baraitser syndrome", "ORPHA:3052": "X-linked intellectual disability-seizures-psoriasis syndrome/Mental retardation associated with psoriasis", "OMIM:309480": "X-linked intellectual disability-seizures-psoriasis syndrome/Mental retardation associated with psoriasis", "ORPHA:3055": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "ORPHA:3057": "Monoamine oxidase A deficiency/Brunner syndrome", "OMIM:300615": "Monoamine oxidase A deficiency/Brunner syndrome", "ORPHA:306": "Benign familial infantile epilepsy/Seizures, benign familial infantile, 1", "OMIM:601764": "Benign familial infantile epilepsy/Seizures, benign familial infantile, 1", "ORPHA:3063": "X-linked intellectual disability, Snyder type/Mental retardation, X-linked, syndromic, Snyder-Robinson type", "OMIM:309583": "X-linked intellectual disability, Snyder type/Mental retardation, X-linked, syndromic, Snyder-Robinson type", "ORPHA:126": "Blepharophimosis-ptosis-epicanthus inversus syndrome/Blepharophimosis, epicanthus inversus, and ptosis", "OMIM:110100": "Blepharophimosis-ptosis-epicanthus inversus syndrome/Blepharophimosis, epicanthus inversus, and ptosis", "ORPHA:306498": "PTEN hamartoma tumor syndrome", "OMIM:614748": "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital", "OMIM:614199": "Nephrotic syndrome, type 5, with or without ocular abnormalities", "ORPHA:306511": "Autosomal recessive spastic paraplegia type 48/Spastic paraplegia 48, autosomal recessive", "OMIM:613647": "Autosomal recessive spastic paraplegia type 48/Spastic paraplegia 48, autosomal recessive", "ORPHA:1261": "Bonnemann-Meinecke-Reich syndrome", "OMIM:601471": "Facial paresis, hereditary congenital, 1", "ORPHA:306542": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome/Frontonasal dysplasia 3", "OMIM:613456": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome/Frontonasal dysplasia 3", "OMIM:613730": "Hemorrhagic destruction of the brain, subependymal calcification,and cataracts", "ORPHA:306550": "FADD-related immunodeficiency/Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations", "OMIM:613759": "FADD-related immunodeficiency/Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations", "OMIM:614231": "Microcephaly, epilepsy, and diabetes syndrome", "OMIM:300000": "Opitz GBBB syndrome", "ORPHA:1262": "Böök syndrome/Book syndrome", "OMIM:112300": "Böök syndrome/Book syndrome", "OMIM:610455": "Tumoral calcinosis, normophosphatemic, familial", "OMIM:211900": "Tumoral calcinosis, hyperphosphatemic, familial, 1", "ORPHA:306669": "Hemiparkinsonism-hemiatrophy syndrome", "ORPHA:306674": "Kufor-Rakeb syndrome/Kufor-Rakeb syndrome", "OMIM:606693": "Kufor-Rakeb syndrome/Kufor-Rakeb syndrome", "ORPHA:1263": "Boomerang dysplasia/Boomerang dysplasia", "OMIM:112310": "Boomerang dysplasia/Boomerang dysplasia", "ORPHA:306682": "Manganese poisoning", "ORPHA:306686": "Delayed encephalopathy due to carbon monoxide poisoning", "ORPHA:306692": "Cyanide-induced parkinsonism-dystonia", "ORPHA:1264": "Tricho-retino-dento-digital syndrome", "ORPHA:306731": "Sydenham chorea", "ORPHA:306734": "Primary dystonia, DYT21 type/Dystonia 21", "OMIM:614588": "Primary dystonia, DYT21 type/Dystonia 21", "ORPHA:306741": "Hemidystonia-hemiatrophy syndrome", "ORPHA:1267": "Botulism", "ORPHA:3068": "Intellectual disability-myopathy-short stature-endocrine defect syndrome", "ORPHA:307": "Juvenile myoclonic epilepsy/Myoclonic epilepsy, juvenile, susceptibility to, 1", "OMIM:254770": "Juvenile myoclonic epilepsy/Myoclonic epilepsy, juvenile, susceptibility to, 1", "ORPHA:127": "Borjeson-Forssman-Lehmann syndrome/Borjeson-Forssman-Lehmann syndrome", "OMIM:301900": "Borjeson-Forssman-Lehmann syndrome/Borjeson-Forssman-Lehmann syndrome", "ORPHA:3071": "Costello syndrome/Costello syndrome", "OMIM:218040": "Costello syndrome/Costello syndrome", "ORPHA:3074": "Intellectual disability-short stature-hypertelorism syndrome", "ORPHA:3077": "X-linked intellectual disability-psychosis-macroorchidism syndrome/Mental retardation, X-linked, syndromic 13", "OMIM:300055": "X-linked intellectual disability-psychosis-macroorchidism syndrome/Mental retardation, X-linked, syndromic 13", "ORPHA:3078": "Severe X-linked intellectual disability, Gustavson type/Mental retardation with optic atrophy, deafness, and seizures", "OMIM:309555": "Severe X-linked intellectual disability, Gustavson type/Mental retardation with optic atrophy, deafness, and seizures", "ORPHA:1270": "Bowen-Conradi syndrome/Bowen-Conradi syndrome", "OMIM:211180": "Bowen-Conradi syndrome/Bowen-Conradi syndrome", "ORPHA:3079": "Intellectual disability, Buenos-Aires type", "ORPHA:308": "Progressive myoclonic epilepsy type 1/Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)", "OMIM:254800": "Progressive myoclonic epilepsy type 1/Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)", "ORPHA:3080": "Intellectual disability, Wolff type/Intellectual disability, Wolff type", "OMIM:277990": "Intellectual disability, Wolff type/Intellectual disability, Wolff type", "ORPHA:1272": "Aymé-Gripp syndrome", "ORPHA:3082": "Intellectual disability-polydactyly-uncombable hair syndrome", "OMIM:252150": "Molybdenum cofactor deficiency, complementation group A", "OMIM:252160": "Molybdenum cofactor deficiency, complementation group B", "OMIM:615501": "Molybdenum cofactor deficiency, complementation group C", "ORPHA:1275": "Brachydactyly-elbow wrist dysplasia syndrome/Synostosis, carpal, with dysplastic elbow joints and brachydactyly", "OMIM:186550": "Brachydactyly-elbow wrist dysplasia syndrome/Synostosis, carpal, with dysplastic elbow joints and brachydactyly", "OMIM:614923": "Branched-Chain ketoacid dehydrogenase kinase deficiency", "OMIM:251120": "Methylmalonyl-Coa epimerase deficiency", "ORPHA:1276": "Brachydactyly-arterial hypertension syndrome/Hypertension and brachydactyly syndrome", "OMIM:112410": "Brachydactyly-arterial hypertension syndrome/Hypertension and brachydactyly syndrome", "ORPHA:3085": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome/Retinitis pigmentosa, deafness, mental retardation, and hypogonadism", "OMIM:268020": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome/Retinitis pigmentosa, deafness, mental retardation, and hypogonadism", "OMIM:193220": "Vitreoretinochoroidopathy", "ORPHA:100069": "Semantic dementia", "ORPHA:1277": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "OMIM:268130": "Revesz syndrome", "OMIM:238600": "Type I hyperlipoproteinemia", "OMIM:207750": "Apolipoprotein C-II deficiency", "ORPHA:1278": "Brachydactyly-preaxial hallux varus syndrome/Brachydactyly, preaxial, with hallux varus and thumb abduction", "OMIM:112450": "Brachydactyly-preaxial hallux varus syndrome/Brachydactyly, preaxial, with hallux varus and thumb abduction", "ORPHA:309031": "Pancreatic triacylglycerol lipase deficiency/Pancreatic lipase deficiency", "OMIM:614338": "Pancreatic triacylglycerol lipase deficiency/Pancreatic lipase deficiency", "ORPHA:309108": "Pancreatic colipase deficiency", "OMIM:237400": "HYPER-BETA-ALANINEMIA", "ORPHA:129": "Pseudopelade of Brocq", "OMIM:602014": "Hypomagnesemia 1, intestinal", "ORPHA:309246": "GM2 gangliosidosis, AB variant/GM2-gangliosidosis, AB variant", "OMIM:272750": "GM2 gangliosidosis, AB variant/GM2-gangliosidosis, AB variant", "ORPHA:30925": "Hereditary central diabetes insipidus/Diabetes insipidus, Neurohypophyseal type", "OMIM:125700": "Hereditary central diabetes insipidus/Diabetes insipidus, Neurohypophyseal type", "OMIM:610539": "Gaucher disease, atypical", "ORPHA:309256": "Metachromatic leukodystrophy, late infantile form", "ORPHA:309263": "Metachromatic leukodystrophy, juvenile form", "ORPHA:309271": "Metachromatic leukodystrophy, adult form", "ORPHA:1292": "Brachymorphism-onychodysplasia-dysphalangism syndrome/Brachymorphism-Onychodysplasia-Dysphalangism syndrome", "OMIM:113477": "Brachymorphism-onychodysplasia-dysphalangism syndrome/Brachymorphism-Onychodysplasia-Dysphalangism syndrome", "OMIM:253000": "Mucopolysaccharidosis IVA", "ORPHA:3093": "Congenital aortic valve stenosis", "OMIM:253010": "Mucopolysaccharidosis type IVB (Morquio)", "OMIM:269920": "Infantile sialic acid storage disease", "OMIM:604369": "Salla disease", "ORPHA:3095": "Atypical Rett syndrome", "ORPHA:1295": "Brachytelephalangy-dysmorphism-Kallmann syndrome", "ORPHA:3097": "Meacham syndrome/Meacham syndrome", "OMIM:608978": "Meacham syndrome/Meacham syndrome", "OMIM:215100": "Rhizomelic chondrodysplasia punctata, type 1", "OMIM:222765": "Rhizomelic chondrodysplasia punctata, type 2", "ORPHA:3098": "Rhizomelic syndrome, Urbach type/Rhizomelic syndrome", "OMIM:268250": "Rhizomelic syndrome, Urbach type/Rhizomelic syndrome", "ORPHA:1296": "Lambert syndrome/Lambert syndrome", "OMIM:245550": "Lambert syndrome/Lambert syndrome", "OMIM:600121": "Rhizomelic chondrodysplasia punctata, type 3", "ORPHA:1297": "Branchio-oculo-facial syndrome/Branchiooculofacial syndrome", "OMIM:113620": "Branchio-oculo-facial syndrome/Branchiooculofacial syndrome", "ORPHA:309854": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome/Hypermanganesemia with dystonia 1", "OMIM:613280": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome/Hypermanganesemia with dystonia 1", "ORPHA:3099": "Rheumatic fever", "ORPHA:31": "Oxoglutaric aciduria/Alpha-Ketoglutarate dehydrogenase deficiency", "OMIM:203740": "Oxoglutaric aciduria/Alpha-Ketoglutarate dehydrogenase deficiency", "ORPHA:1299": "Branchioskeletogenital syndrome/Elsahy-Waters syndrome", "OMIM:211380": "Branchioskeletogenital syndrome/Elsahy-Waters syndrome", "ORPHA:3101": "Richieri Costa-da Silva syndrome/Myotonia with skeletal abnormalities and mental retardation", "OMIM:255710": "Richieri Costa-da Silva syndrome/Myotonia with skeletal abnormalities and mental retardation", "OMIM:268305": "Robin sequence with cleft mandible and limb anomalies", "ORPHA:3103": "Roberts syndrome/Roberts-SC phocomelia syndrome", "OMIM:268300": "Roberts syndrome/Roberts-SC phocomelia syndrome", "ORPHA:3104": "Robin sequence-oligodactyly syndrome/Pierre Robin syndrome and oligodactyly", "OMIM:172880": "Robin sequence-oligodactyly syndrome/Pierre Robin syndrome and oligodactyly", "OMIM:248250": "Hypomagnesemia 3, renal", "ORPHA:3107": "Autosomal dominant Robinow syndrome/Robinow syndrome, autosomal dominant 1", "OMIM:180700": "Autosomal dominant Robinow syndrome/Robinow syndrome, autosomal dominant 1", "ORPHA:3109": "Mayer-Rokitansky-Küster-Hauser syndrome", "OMIM:180730": "Rombo syndrome", "ORPHA:3111": "Rotor syndrome/Hyperbilirubinemia, Rotor type, digenic", "OMIM:237450": "Rotor syndrome/Hyperbilirubinemia, Rotor type, digenic", "ORPHA:31112": "Dermatofibrosarcoma protuberans", "ORPHA:100070": "Progressive non-fluent aphasia", "ORPHA:13": "6-pyruvoyl-tetrahydropterin synthase deficiency/Hyperphenylalaninemia, BH4-deficient, A", "OMIM:261640": "6-pyruvoyl-tetrahydropterin synthase deficiency/Hyperphenylalaninemia, BH4-deficient, A", "ORPHA:31142": "Oral erosive lichen", "ORPHA:3115": "Roussy-Lévy syndrome/Roussy-Levy hereditary areflexic dystasia", "OMIM:180800": "Roussy-Lévy syndrome/Roussy-Levy hereditary areflexic dystasia", "ORPHA:31150": "Tangier disease/Tangier disease", "OMIM:205400": "Tangier disease/Tangier disease", "ORPHA:312": "Autosomal dominant epidermolytic ichthyosis/Epidermolytic hyperkeratosis", "OMIM:113800": "Autosomal dominant epidermolytic ichthyosis/Epidermolytic hyperkeratosis", "ORPHA:3121": "Ruvalcaba syndrome/Ruvalcaba syndrome", "OMIM:180870": "Ruvalcaba syndrome/Ruvalcaba syndrome", "CCRD:14.3": "Brugada综合征/Brugada Syndrome, BrS/Brugada syndrome/Brugada syndrome 1", "ORPHA:130": "Brugada综合征/Brugada Syndrome, BrS/Brugada syndrome/Brugada syndrome 1", "OMIM:601144": "Brugada综合征/Brugada Syndrome, BrS/Brugada syndrome/Brugada syndrome 1", "ORPHA:3124": "Saccharopinuria/SACCHAROPINURIA", "OMIM:268700": "Saccharopinuria/SACCHAROPINURIA", "ORPHA:3129": "Sarcosinemia/SARCOSINEMIA", "OMIM:268900": "Sarcosinemia/SARCOSINEMIA", "ORPHA:313": "Lamellar ichthyosis", "ORPHA:3130": "Satoyoshi syndrome/Satoyoshi syndrome", "OMIM:600705": "Satoyoshi syndrome/Satoyoshi syndrome", "ORPHA:3132": "Say-Barber-Miller syndrome/Microcephaly with chemotactic defect and transient hypogammaglobulinemia", "OMIM:251240": "Say-Barber-Miller syndrome/Microcephaly with chemotactic defect and transient hypogammaglobulinemia", "OMIM:190650": "Triphalangeal thumbs and dislocation of patella", "ORPHA:3134": "SCARF syndrome/Scarf syndrome", "OMIM:312830": "SCARF syndrome/Scarf syndrome", "OMIM:181440": "Scheuermann disease", "ORPHA:3137": "Alpha-N-acetylgalactosaminidase deficiency", "ORPHA:313772": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome/Spastic ataxia 5, autosomal recessive", "OMIM:614487": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome/Spastic ataxia 5, autosomal recessive", "ORPHA:1300": "Autosomal dominant popliteal pterygium syndrome/Popliteal pterygium syndrome", "OMIM:119500": "Autosomal dominant popliteal pterygium syndrome/Popliteal pterygium syndrome", "ORPHA:313781": "20p13 microdeletion syndrome", "OMIM:251255": "Jawad syndrome", "ORPHA:3138": "Ulnar-mammary syndrome/Ulnar-Mammary syndrome", "OMIM:181450": "Ulnar-mammary syndrome/Ulnar-Mammary syndrome", "OMIM:614979": "Splenomegaly, cytopenia, and vision loss", "OMIM:221820": "Leukoencephalopathy, diffuse hereditary, with spheroids", "OMIM:612199": "Cerebroretinal microangiopathy with calcifications and cysts 1", "OMIM:614564": "Cutaneous telangiectasia and cancer syndrome, familial", "OMIM:614559": "Infantile cerebellar-retinal degeneration", "ORPHA:313855": "FGFR2-related bent bone dysplasia/Bent bone dysplasia syndrome", "OMIM:614592": "FGFR2-related bent bone dysplasia/Bent bone dysplasia syndrome", "ORPHA:313892": "Developmental and speech delay due to SOX5 deficiency", "ORPHA:313906": "Congenital pancreatic cyst", "ORPHA:313947": "2q23.1 microduplication syndrome", "ORPHA:314": "Erythroderma desquamativum", "ORPHA:314034": "7p22.1 microduplication syndrome", "OMIM:614924": "Combined oxidative phosphorylation deficiency 12", "ORPHA:3143": "Autoimmune polyendocrinopathy type 2/Autoimmune polyendocrine syndrome, type II", "OMIM:269200": "Autoimmune polyendocrinopathy type 2/Autoimmune polyendocrine syndrome, type II", "OMIM:614616": "Diarrhea 6", "OMIM:614665": "Meconium ileus", "OMIM:614653": "Neuropathy, hereditary sensory and autonomic, type VI", "ORPHA:314389": "Xq12-q13.3 duplication syndrome", "OMIM:614813": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis", "OMIM:614675": "Bone marrow failure syndrome 1", "ORPHA:3144": "Schneckenbecken dysplasia/Schneckenbecken dysplasia", "OMIM:269250": "Schneckenbecken dysplasia/Schneckenbecken dysplasia", "ORPHA:314404": "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome/Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant", "OMIM:604121": "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome/Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant", "ORPHA:314473": "Ovarian fibroma", "ORPHA:1305": "Feingold syndrome", "ORPHA:314478": "Ovarian fibrothecoma", "OMIM:614881": "Spinal muscular atrophy, distal, autosomal recessive, 5", "ORPHA:3145": "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome/Nephrogenic diabetes insipidus - intracranial calcification", "OMIM:221995": "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome/Nephrogenic diabetes insipidus - intracranial calcification", "OMIM:611174": "Hamamy syndrome", "ORPHA:314575": "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "ORPHA:314585": "15q overgrowth syndrome", "OMIM:604213": "Chudley-Mccullough syndrome", "ORPHA:1306": "Buschke-Ollendorff syndrome/Buschke-Ollendorff syndrome", "OMIM:166700": "Buschke-Ollendorff syndrome/Buschke-Ollendorff syndrome", "ORPHA:314603": "Autosomal recessive spastic ataxia with leukoencephalopathy/Spastic ataxia 3, autosomal recessive", "OMIM:611390": "Autosomal recessive spastic ataxia with leukoencephalopathy/Spastic ataxia 3, autosomal recessive", "ORPHA:314621": "Duplication of the pituitary gland", "OMIM:614706": "Ceroid lipofuscinosis, neuronal, 11", "ORPHA:314632": "ATP13A2-related juvenile neuronal ceroid lipofuscinosis", "OMIM:614702": "Combined oxidative phosphorylation deficiency 10", "ORPHA:314647": "Non-progressive cerebellar ataxia with intellectual disability/Cerebellar dysfunction with variable cognitive and behavioral abnormalities", "OMIM:614756": "Non-progressive cerebellar ataxia with intellectual disability/Cerebellar dysfunction with variable cognitive and behavioral abnormalities", "ORPHA:314652": "Variant ABeta2M amyloidosis", "ORPHA:1307": "Distal limb deficiencies-micrognathia syndrome/Split-Hand/foot malformation 3", "OMIM:246560": "Distal limb deficiencies-micrognathia syndrome/Split-Hand/foot malformation 3", "OMIM:614727": "Congenital disorder of glycosylation, type IIK", "ORPHA:314679": "Cerebrofacioarticular syndrome/Van Maldergem syndrome 1", "OMIM:601390": "Cerebrofacioarticular syndrome/Van Maldergem syndrome 1", "OMIM:614868": "T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS", "ORPHA:1308": "C syndrome/C syndrome", "OMIM:211750": "C syndrome/C syndrome", "ORPHA:314769": "Somatomammotropinoma", "ORPHA:314795": "SHOX-related short stature/Short stature, idiopathic familial", "OMIM:300582": "SHOX-related short stature/Short stature, idiopathic familial", "ORPHA:314802": "Short stature due to partial GHR deficiency/Growth hormone insensitivity, partial", "OMIM:604271": "Short stature due to partial GHR deficiency/Growth hormone insensitivity, partial", "ORPHA:314811": "Short stature due to GHSR deficiency/Growth hormone deficiency, isolated partial", "OMIM:615925": "Short stature due to GHSR deficiency/Growth hormone deficiency, isolated partial", "ORPHA:1309": "Medullary sponge kidney", "ORPHA:314911": "Severe Canavan disease", "ORPHA:314918": "Mild Canavan disease", "ORPHA:314978": "X-linked non progressive cerebellar ataxia", "ORPHA:131": "Budd-Chiari syndrome/Budd-Chiari syndrome", "OMIM:600880": "Budd-Chiari syndrome/Budd-Chiari syndrome", "OMIM:608227": "Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation", "ORPHA:315": "Erythrokeratoderma ''en cocardes''", "ORPHA:3151": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "ORPHA:3152": "Sclerosteosis", "ORPHA:3156": "Senior-Loken syndrome/Senior-Loken syndrome 1", "OMIM:266900": "Senior-Loken syndrome/Senior-Loken syndrome 1", "ORPHA:3157": "Septo-optic dysplasia spectrum/Septooptic dysplasia", "OMIM:182230": "Septo-optic dysplasia spectrum/Septooptic dysplasia", "ORPHA:316": "Progressive symmetric erythrokeratodermia", "ORPHA:1310": "Caffey disease/Caffey disease", "OMIM:114000": "Caffey disease/Caffey disease", "ORPHA:3162": "Sézary syndrome", "ORPHA:3163": "SHORT syndrome/Short syndrome", "OMIM:269880": "SHORT syndrome/Short syndrome", "ORPHA:3164": "Omphalocele syndrome, Shprintzen-Goldberg type/Shprintzen omphalocele syndrome", "OMIM:182210": "Omphalocele syndrome, Shprintzen-Goldberg type/Shprintzen omphalocele syndrome", "ORPHA:3165": "Eosinophilic fasciitis/Eosinophilic fasciitis", "OMIM:226350": "Eosinophilic fasciitis/Eosinophilic fasciitis", "ORPHA:3166": "Sialuria/Sialuria", "OMIM:269921": "Sialuria/Sialuria", "ORPHA:1313": "Infantile choroidocerebral calcification syndrome/Choroid plexus calcification and mental retardation", "OMIM:215480": "Infantile choroidocerebral calcification syndrome/Choroid plexus calcification and mental retardation", "ORPHA:3168": "Sillence syndrome", "ORPHA:3169": "Sirenomelia", "ORPHA:317": "Erythrokeratodermia variabilis", "ORPHA:31709": "Infantile convulsions and choreoathetosis/Convulsions, familial infantile, with paroxysmal choreoathetosis", "OMIM:602066": "Infantile convulsions and choreoathetosis/Convulsions, familial infantile, with paroxysmal choreoathetosis", "ORPHA:3173": "Infantile spasms-broad thumbs syndrome", "ORPHA:1314": "Symmetrical thalamic calcifications", "OMIM:615966": "Immunodeficiency 26 with or without neurologic abnormalities", "OMIM:612782": "Immunodeficiency 9", "OMIM:612783": "Immunodeficiency 10", "OMIM:616873": "Immunodeficiency, common variable, 13", "OMIM:300853": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia", "ORPHA:3175": "X-linked spasticity-intellectual disability-epilepsy syndrome", "ORPHA:3176": "Spina bifida-hypospadias syndrome", "ORPHA:3177": "Spinocerebellar degeneration-corneal dystrophy syndrome/Spinocerebellar degeneration and corneal dystrophy", "OMIM:271310": "Spinocerebellar degeneration-corneal dystrophy syndrome/Spinocerebellar degeneration and corneal dystrophy", "ORPHA:318": "Acute erythroid leukemia", "ORPHA:3180": "Spondylocamptodactyly syndrome", "ORPHA:1318": "Campomelia, Cumming type/Campomelia, Cumming type", "OMIM:211890": "Campomelia, Cumming type/Campomelia, Cumming type", "ORPHA:3181": "Sprengel deformity/Sprengel deformity", "OMIM:184400": "Sprengel deformity/Sprengel deformity", "ORPHA:31824": "Colchicine poisoning", "OMIM:265450": "Pulmonary venoocclusive disease 1", "OMIM:184510": "Steatocystoma multiplex with natal teeth", "ORPHA:3186": "Holoprosencephaly-radial heart renal anomalies syndrome/Steinfeld syndrome", "OMIM:184705": "Holoprosencephaly-radial heart renal anomalies syndrome/Steinfeld syndrome", "ORPHA:3188": "Congenital pulmonary veins atresia or stenosis", "ORPHA:1319": "Camptobrachydactyly/CAMPTOBRACHYDACTYLY", "OMIM:114150": "Camptobrachydactyly/CAMPTOBRACHYDACTYLY", "ORPHA:3189": "Congenital pulmonary valvar stenosis", "OMIM:612219": "Ewing sarcoma", "ORPHA:3191": "Subaortic stenosis-short stature syndrome", "OMIM:614807": "Myopathy, centronuclear, 4", "ORPHA:319171": "Distal 17p13.1 microdeletion syndrome", "ORPHA:319182": "Wiedemann-Steiner syndrome/Wiedemann-Steiner syndrome", "OMIM:605130": "Wiedemann-Steiner syndrome/Wiedemann-Steiner syndrome", "OMIM:614937": "Myoclonus, familial cortical", "ORPHA:319195": "Chondroectodermal dysplasia with night blindness", "ORPHA:132": "Butyrylcholinesterase deficiency/Butyrylcholinesterase deficiency", "OMIM:617936": "Butyrylcholinesterase deficiency/Butyrylcholinesterase deficiency", "ORPHA:319199": "Autosomal recessive spastic paraplegia type 53/Spastic paraplegia 53, autosomal recessive", "OMIM:614898": "Autosomal recessive spastic paraplegia type 53/Spastic paraplegia 53, autosomal recessive", "ORPHA:319213": "Lujo hemorrhagic fever", "ORPHA:319218": "Ebola hemorrhagic fever", "ORPHA:319251": "Rift valley fever", "ORPHA:3193": "Supravalvular aortic stenosis/Supravalvular aortic stenosis", "OMIM:185500": "Supravalvular aortic stenosis/Supravalvular aortic stenosis", "ORPHA:319332": "Autosomal recessive myogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita 3, myogenic type", "OMIM:618484": "Autosomal recessive myogenic arthrogryposis multiplex congenita/Arthrogryposis multiplex congenita 3, myogenic type", "OMIM:608837": "Carney complex variant", "ORPHA:3194": "Corneodermatoosseous syndrome", "OMIM:605724": "Fanconi anemia, complementation group D1", "ORPHA:100073": "Neurogenic thoracic outlet syndrome", "ORPHA:1323": "Camptodactyly-joint contractures-facial skeletal defects syndrome", "ORPHA:319487": "Familial papillary or follicular thyroid carcinoma", "OMIM:614096": "Combined oxidative phosphorylation deficiency 8", "OMIM:614582": "Combined oxidative phosphorylation deficiency 9", "ORPHA:319514": "Combined oxidative phosphorylation defect type 13/Combined oxidative phosphorylation deficiency 13", "OMIM:614932": "Combined oxidative phosphorylation defect type 13/Combined oxidative phosphorylation deficiency 13", "OMIM:614946": "Combined oxidative phosphorylation deficiency 14", "OMIM:614947": "Combined oxidative phosphorylation deficiency 15", "ORPHA:1325": "Camptodactyly-taurinuria syndrome", "ORPHA:319552": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency/Immunodeficiency 30", "OMIM:614891": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency/Immunodeficiency 30", "OMIM:614890": "Immunodeficiency 29", "OMIM:616126": "Immunodeficiency 38 with basal ganglia calcification", "OMIM:615978": "Immunodeficiency 27B", "OMIM:614892": "Immunodeficiency 31A", "ORPHA:3196": "Steroid dehydrogenase deficiency-dental anomalies syndrome", "ORPHA:1326": "Camptodactyly syndrome, Guadalajara type 2", "ORPHA:319600": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency/Immunodeficiency 32A", "OMIM:614893": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency/Immunodeficiency 32A", "OMIM:300636": "Immunodeficiency 33", "OMIM:300645": "Atypical mycobacteriosis, familial, X-linked 2", "OMIM:617920": "Amyloidosis, primary localized cutaneous, 3", "OMIM:608051": "Macular dystrophy, retinal, 2", "OMIM:614921": "Congenital disorder of glycosylation, type It", "OMIM:613839": "Megaloblastic anemia due to dihydrofolate reductase deficiency", "ORPHA:319671": "Alazami syndrome/Alazami syndrome", "OMIM:615071": "Alazami syndrome/Alazami syndrome", "ORPHA:1327": "Camptodactyly syndrome, Guadalajara type 1", "ORPHA:319675": "Microcephalic primordial dwarfism, Dauber type/Seckel syndrome 7", "OMIM:614851": "Microcephalic primordial dwarfism, Dauber type/Seckel syndrome 7", "OMIM:614654": "Coenzyme Q10 deficiency, primary, 5", "ORPHA:3197": "Hereditary hyperekplexia/Hyperekplexia 1", "OMIM:149400": "Hereditary hyperekplexia/Hyperekplexia 1", "ORPHA:3198": "Stiff person spectrum disorder/Stiff-Person syndrome", "OMIM:184850": "Stiff person spectrum disorder/Stiff-Person syndrome", "ORPHA:3199": "Stimmler syndrome", "ORPHA:32": "Glutathione synthetase deficiency", "ORPHA:320": "Apparent mineralocorticoid excess/Apparent mineralocorticoid excess", "OMIM:218030": "Apparent mineralocorticoid excess/Apparent mineralocorticoid excess", "ORPHA:3201": "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome/Ventricular extrasystoles with syncope, perodactyly, and Robin sequence", "OMIM:192445": "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome/Ventricular extrasystoles with syncope, perodactyly, and Robin sequence", "ORPHA:1328": "Camurati-Engelmann disease/Camurati-Engelmann disease", "OMIM:131300": "Camurati-Engelmann disease/Camurati-Engelmann disease", "ORPHA:3203": "Overhydrated hereditary stomatocytosis/Overhydrated hereditary stomatocytosis", "OMIM:185000": "Overhydrated hereditary stomatocytosis/Overhydrated hereditary stomatocytosis", "ORPHA:320355": "Autosomal dominant spastic paraplegia type 41/Spastic paraplegia 41, autosomal dominant", "OMIM:613364": "Autosomal dominant spastic paraplegia type 41/Spastic paraplegia 41, autosomal dominant", "ORPHA:320360": "MT-ATP6-related mitochondrial spastic paraplegia", "ORPHA:320365": "Autosomal dominant spastic paraplegia type 36/Spastic paraplegia 36, autosomal dominant", "OMIM:613096": "Autosomal dominant spastic paraplegia type 36/Spastic paraplegia 36, autosomal dominant", "ORPHA:320370": "Autosomal recessive spastic paraplegia type 43/Spastic paraplegia 43, autosomal recessive", "OMIM:615043": "Autosomal recessive spastic paraplegia type 43/Spastic paraplegia 43, autosomal recessive", "ORPHA:320375": "Autosomal recessive spastic paraplegia type 55/Spastic paraplegia 55, autosomal recessive", "OMIM:615035": "Autosomal recessive spastic paraplegia type 55/Spastic paraplegia 55, autosomal recessive", "ORPHA:320380": "Autosomal recessive spastic paraplegia type 54/Spastic paraplegia 54, autosomal recessive", "OMIM:615033": "Autosomal recessive spastic paraplegia type 54/Spastic paraplegia 54, autosomal recessive", "ORPHA:320385": "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation/Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay", "OMIM:615031": "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation/Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay", "ORPHA:320391": "Autosomal recessive spastic paraplegia type 46/Spastic paraplegia 46, autosomal recessive", "OMIM:614409": "Autosomal recessive spastic paraplegia type 46/Spastic paraplegia 46, autosomal recessive", "ORPHA:320396": "Autosomal recessive spastic paraplegia type 45/Spastic paraplegia 45, autosomal recessive", "OMIM:613162": "Autosomal recessive spastic paraplegia type 45/Spastic paraplegia 45, autosomal recessive", "ORPHA:3204": "Stormorken-Sjaastad-Langslet syndrome/Stormorken syndrome", "OMIM:185070": "Stormorken-Sjaastad-Langslet syndrome/Stormorken syndrome", "ORPHA:320401": "Autosomal recessive spastic paraplegia type 44/Spastic paraplegia 44, autosomal recessive", "OMIM:613206": "Autosomal recessive spastic paraplegia type 44/Spastic paraplegia 44, autosomal recessive", "ORPHA:320406": "Spastic paraplegia-optic atrophy-neuropathy syndrome/Spastic paraplegia, optic atrophy, and neuropathy", "OMIM:609541": "Spastic paraplegia-optic atrophy-neuropathy syndrome/Spastic paraplegia, optic atrophy, and neuropathy", "ORPHA:320411": "Autosomal recessive spastic paraplegia type 56/Spastic paraplegia 56, autosomal recessive", "OMIM:615030": "Autosomal recessive spastic paraplegia type 56/Spastic paraplegia 56, autosomal recessive", "ORPHA:3205": "Sturge-Weber syndrome/Sturge-Weber syndrome", "OMIM:185300": "Sturge-Weber syndrome/Sturge-Weber syndrome", "ORPHA:3206": "Stüve-Wiedemann syndrome/Stuve-Wiedemann syndrome", "OMIM:601559": "Stüve-Wiedemann syndrome/Stuve-Wiedemann syndrome", "ORPHA:3207": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "ORPHA:3208": "Isolated succinate-CoQ reductase deficiency/Mitochondrial complex II deficiency", "OMIM:252011": "Isolated succinate-CoQ reductase deficiency/Mitochondrial complex II deficiency", "ORPHA:321": "Multiple osteochondromas/Exostoses, multiple, type I", "OMIM:133700": "Multiple osteochondromas/Exostoses, multiple, type I", "ORPHA:3210": "Summitt syndrome/Summitt syndrome", "OMIM:272350": "Summitt syndrome/Summitt syndrome", "ORPHA:3214": "Deaf blind hypopigmentation syndrome, Yemenite type/Yemenite deaf-blind hypopigmentation syndrome", "OMIM:601706": "Deaf blind hypopigmentation syndrome, Yemenite type/Yemenite deaf-blind hypopigmentation syndrome", "ORPHA:3216": "Conductive deafness-malformed external ear syndrome/Deafness, conductive, with malformed external ear", "OMIM:221300": "Conductive deafness-malformed external ear syndrome/Deafness, conductive, with malformed external ear", "ORPHA:3217": "Deafness-small bowel diverticulosis-neuropathy syndrome/Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy", "OMIM:221400": "Deafness-small bowel diverticulosis-neuropathy syndrome/Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy", "ORPHA:1330": "Partial atrioventricular septal defect", "ORPHA:3218": "Deafness-epiphyseal dysplasia-short stature syndrome", "ORPHA:3219": "Fountain syndrome/Fountain syndrome", "OMIM:229120": "Fountain syndrome/Fountain syndrome", "ORPHA:322": "Exstrophy-epispadias complex/Exstrophy of bladder", "OMIM:600057": "Exstrophy-epispadias complex/Exstrophy of bladder", "ORPHA:3220": "Deafness-enamel hypoplasia-nail defects syndrome/Heimler syndrome 1", "OMIM:234580": "Deafness-enamel hypoplasia-nail defects syndrome/Heimler syndrome 1", "ORPHA:3222": "Phosphoribosylpyrophosphate synthetase superactivity", "ORPHA:3224": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "ORPHA:3225": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "ORPHA:3226": "Deafness-lymphedema-leukemia syndrome/Lymphedema, primary, with myelodysplasia", "OMIM:614038": "Deafness-lymphedema-leukemia syndrome/Lymphedema, primary, with myelodysplasia", "ORPHA:3230": "Deafness-oligodontia syndrome/Deafness-Oligodontia syndrome", "OMIM:221740": "Deafness-oligodontia syndrome/Deafness-Oligodontia syndrome", "ORPHA:3232": "Deafness-ear malformation-facial palsy syndrome", "ORPHA:3233": "Cochleosaccular degeneration-cataract syndrome/Cochleosaccular degeneration of the inner ear with progressive cataracts", "OMIM:120040": "Cochleosaccular degeneration-cataract syndrome/Cochleosaccular degeneration of the inner ear with progressive cataracts", "ORPHA:3235": "Progressive deafness with stapes fixation/Deafness, progressive, with stapes fixation", "OMIM:601449": "Progressive deafness with stapes fixation/Deafness, progressive, with stapes fixation", "ORPHA:3236": "Conductive deafness-ptosis-skeletal anomalies syndrome/Deafness, conductive, with ptosis and skeletal anomalies", "OMIM:221320": "Conductive deafness-ptosis-skeletal anomalies syndrome/Deafness, conductive, with ptosis and skeletal anomalies", "ORPHA:3237": "Multiple synostoses syndrome", "ORPHA:3238": "Cardiospondylocarpofacial syndrome/Cardiospondylocarpofacial syndrome", "OMIM:157800": "Cardiospondylocarpofacial syndrome/Cardiospondylocarpofacial syndrome", "ORPHA:3239": "Deafness-vitiligo-achalasia syndrome/Deafness, congenital, with vitiligo and achalasia", "OMIM:221350": "Deafness-vitiligo-achalasia syndrome/Deafness, congenital, with vitiligo and achalasia", "CCRD:27": "法布雷病/Fabry disease/Fabry disease/Fabry disease", "ORPHA:324": "法布雷病/Fabry disease/Fabry disease/Fabry disease", "OMIM:301500": "法布雷病/Fabry disease/Fabry disease/Fabry disease", "ORPHA:3240": "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome", "ORPHA:1332": "Medullary thyroid carcinoma", "ORPHA:3241": "Deafness-craniofacial syndrome", "ORPHA:3242": "Renpenning syndrome/Renpenning syndrome", "OMIM:309500": "Renpenning syndrome/Renpenning syndrome", "ORPHA:324262": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency/Spinocerebellar ataxia, autosomal recessive 13", "OMIM:614831": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency/Spinocerebellar ataxia, autosomal recessive 13", "ORPHA:324290": "Early-onset Lafora body disease/Epilepsy, progressive myoclonic, 10", "OMIM:616640": "Early-onset Lafora body disease/Epilepsy, progressive myoclonic, 10", "OMIM:618307": "Epidermodysplasia verruciformis, susceptibility to, 4", "ORPHA:324313": "9p13 microdeletion syndrome", "OMIM:614896": "Sinoatrial node dysfunction and deafness", "ORPHA:100075": "Neuroendocrine tumor of stomach", "ORPHA:1333": "Familial pancreatic carcinoma", "ORPHA:324410": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome/Mental retardation, X-linked, syndromic 32", "OMIM:300886": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome/Mental retardation, X-linked, syndromic 32", "ORPHA:324416": "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "ORPHA:324422": "ALG13-CDG", "ORPHA:324442": "Autosomal recessive axonal neuropathy with neuromyotonia/Neuromyotonia and axonal neuropathy, autosomal recessive", "OMIM:137200": "Autosomal recessive axonal neuropathy with neuromyotonia/Neuromyotonia and axonal neuropathy, autosomal recessive", "OMIM:614878": "Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated", "OMIM:614922": "Combined oxidative phosphorylation deficiency 11", "ORPHA:1334": "Chronic mucocutaneous candidiasis/Candidiasis, familial chronic mucocutaneous, autosomal dominant", "OMIM:114580": "Chronic mucocutaneous candidiasis/Candidiasis, familial chronic mucocutaneous, autosomal dominant", "ORPHA:324540": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "OMIM:615522": "Cole disease", "OMIM:614961": "Pontocerebellar hypoplasia, type 8", "ORPHA:324575": "Hyperinsulinism due to HNF1A deficiency", "ORPHA:324581": "Benign Samaritan congenital myopathy", "ORPHA:324588": "Familial dyskinesia and facial myokymia/Dyskinesia, familial, with facial myokymia", "OMIM:606703": "Familial dyskinesia and facial myokymia/Dyskinesia, familial, with facial myokymia", "ORPHA:3246": "Symphalangism with multiple anomalies of hands and feet", "ORPHA:324604": "Classic multiminicore myopathy", "ORPHA:1335": "Pentalogy of Cantrell/Thoracoabdominal syndrome", "OMIM:313850": "Pentalogy of Cantrell/Thoracoabdominal syndrome", "ORPHA:324703": "ABetaL34V amyloidosis", "ORPHA:324708": "ABeta amyloidosis, Iowa type", "ORPHA:324713": "ABeta amyloidosis, Italian type", "ORPHA:324723": "ABeta amyloidosis, Arctic type", "ORPHA:1336": "Hyperkeratosis-hyperpigmentation syndrome", "ORPHA:324737": "SRD5A3-CDG/Congenital disorder of glycosylation, type IQ", "OMIM:612379": "SRD5A3-CDG/Congenital disorder of glycosylation, type IQ", "ORPHA:3248": "Distal symphalangism/Symphalangism, distal", "OMIM:185700": "Distal symphalangism/Symphalangism, distal", "ORPHA:1338": "Heart defect-tongue hamartoma-polysyndactyly syndrome/Congenital heart defects, hamartomas of tongue, and polysyndactyly", "OMIM:217085": "Heart defect-tongue hamartoma-polysyndactyly syndrome/Congenital heart defects, hamartomas of tongue, and polysyndactyly", "ORPHA:324964": "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis/Chronic recurrent multifocal osteomyelitis", "OMIM:259680": "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis/Chronic recurrent multifocal osteomyelitis", "OMIM:256040": "Proteasome-associated autoinflammatory syndrome 1 and digenic forms", "ORPHA:325": "Congenital factor II deficiency/Congenital prothrombin deficiency", "OMIM:613679": "Congenital factor II deficiency/Congenital prothrombin deficiency", "CCRD:12": "β-酮硫解酶缺乏症/β-ketothiolase deficiency; BKD; Mitochondrial acetoacetyl-CoA thiolase [3-oxothiolase] deficiency/Beta-ketothiolase deficiency/Alpha-Methylacetoacetic aciduria", "ORPHA:134": "β-酮硫解酶缺乏症/β-ketothiolase deficiency; BKD; Mitochondrial acetoacetyl-CoA thiolase [3-oxothiolase] deficiency/Beta-ketothiolase deficiency/Alpha-Methylacetoacetic aciduria", "OMIM:203750": "β-酮硫解酶缺乏症/β-ketothiolase deficiency; BKD; Mitochondrial acetoacetyl-CoA thiolase [3-oxothiolase] deficiency/Beta-ketothiolase deficiency/Alpha-Methylacetoacetic aciduria", "ORPHA:3250": "Proximal symphalangism/Symphalangism, proximal, 1A", "OMIM:185800": "Proximal symphalangism/Symphalangism, proximal, 1A", "ORPHA:325124": "Testicular agenesis", "ORPHA:3253": "Cleft lip/palate-ectodermal dysplasia syndrome/Cleft lip/palate-ectodermal dysplasia syndrome", "OMIM:225060": "Cleft lip/palate-ectodermal dysplasia syndrome/Cleft lip/palate-ectodermal dysplasia syndrome", "ORPHA:1340": "Cardiofaciocutaneous syndrome/Cardiofaciocutaneous syndrome 1", "OMIM:115150": "Cardiofaciocutaneous syndrome/Cardiofaciocutaneous syndrome 1", "ORPHA:325345": "46,XY ovotesticular disorder of sex development", "OMIM:228300": "Hypogonadotropic hypogonadism 23 without anosmia", "ORPHA:3255": "Filippi syndrome/Filippi syndrome", "OMIM:272440": "Filippi syndrome/Filippi syndrome", "OMIM:140450": "Heart-hand syndrome, Spanish type", "ORPHA:3258": "Cenani-Lenz syndrome/Cenani-Lenz syndactyly syndrome", "OMIM:212780": "Cenani-Lenz syndrome/Cenani-Lenz syndactyly syndrome", "OMIM:186350": "Syndactyly-Polydactyly-Earlobe syndrome", "ORPHA:326": "Congenital factor V deficiency/Factor V deficiency", "OMIM:227400": "Congenital factor V deficiency/Factor V deficiency", "ORPHA:3260": "Idiopathic hypereosinophilic syndrome/Hypereosinophilic syndrome, idiopathic", "OMIM:607685": "Idiopathic hypereosinophilic syndrome/Hypereosinophilic syndrome, idiopathic", "ORPHA:3261": "Autoimmune lymphoproliferative syndrome/Autoimmune lymphoproliferative syndrome", "OMIM:601859": "Autoimmune lymphoproliferative syndrome/Autoimmune lymphoproliferative syndrome", "ORPHA:3265": "Humero-radial synostosis/Humeroradial synostosis, Humeroradial synostosishumeroradial/multiple synostosis syndrome", "OMIM:143050": "Humero-radial synostosis/Humeroradial synostosis, Humeroradial synostosishumeroradial/multiple synostosis syndrome", " OMIM:236400": "Humero-radial synostosis/Humeroradial synostosis, Humeroradial synostosishumeroradial/multiple synostosis syndrome", "ORPHA:3266": "Humero-radio-ulnar synostosis", "ORPHA:3268": "Radioulnar synostosis-microcephaly-scoliosis syndrome", "ORPHA:1345": "Cardiomyopathy-cataract-hip spine disease syndrome", "ORPHA:327": "Congenital factor VII deficiency/Factor VII deficiency", "OMIM:227500": "Congenital factor VII deficiency/Factor VII deficiency", "ORPHA:3270": "Radioulnar synostosis-developmental delay-hypotonia syndrome/Radioulnar synostosis, unilateral, with developmental retardationand hypotonia", "OMIM:266255": "Radioulnar synostosis-developmental delay-hypotonia syndrome/Radioulnar synostosis, unilateral, with developmental retardationand hypotonia", "OMIM:300813": "Sarcoma, synovial", "OMIM:272460": "Spondylocarpotarsal synostosis syndrome", "ORPHA:328": "Congenital factor X deficiency/Factor X deficiency", "OMIM:227600": "Congenital factor X deficiency/Factor X deficiency", "OMIM:186700": "Syringomyelia, isolated", "ORPHA:3283": "His bundle tachycardia", "CCRD:14.4": "儿茶酚胺敏感型多形性室性心动过速/Cateeholaminergic polymorphic ventricular tachycardia, CPVT/Catecholaminergic polymorphic ventricular tachycardia/Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy", "ORPHA:3286": "儿茶酚胺敏感型多形性室性心动过速/Cateeholaminergic polymorphic ventricular tachycardia, CPVT/Catecholaminergic polymorphic ventricular tachycardia/Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy", "OMIM:604772": "儿茶酚胺敏感型多形性室性心动过速/Cateeholaminergic polymorphic ventricular tachycardia, CPVT/Catecholaminergic polymorphic ventricular tachycardia/Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy", "ORPHA:100076": "Duodenal neuroendocrine tumor", "ORPHA:1349": "Mitochondrial DNA-related cardiomyopathy and hearing loss", "ORPHA:3287": "Takayasu arteritis/Takayasu arteritis", "OMIM:207600": "Takayasu arteritis/Takayasu arteritis", "OMIM:272700": "TAURODONTISM", "ORPHA:329": "Congenital factor XI deficiency/Factor XI deficiency", "OMIM:612416": "Congenital factor XI deficiency/Factor XI deficiency", "OMIM:272950": "Teebi-Shaltout syndrome", "ORPHA:329178": "Congenital muscular dystrophy with intellectual disability and severe epilepsy/Congenital disorder of glycosylation, type Iu", "OMIM:615042": "Congenital muscular dystrophy with intellectual disability and severe epilepsy/Congenital disorder of glycosylation, type Iu", "OMIM:615923": "Epiphyseal chondrodysplasia, Miura type", "OMIM:615516": "Mental retardation, autosomal recessive 38", "OMIM:211960": "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases", "OMIM:193235": "Vitreoretinopathy, neovascular inflammatory", "ORPHA:135": "CACH syndrome/Leukoencephalopathy with vanishing white matter", "OMIM:603896": "CACH syndrome/Leukoencephalopathy with vanishing white matter", "ORPHA:329224": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome/Schuurs-Hoeijmakers syndrome", "OMIM:615009": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome/Schuurs-Hoeijmakers syndrome", "ORPHA:329228": "Microcephalic primordial dwarfism due to ZNF335 deficiency/Microcephaly 10, primary, autosomal recessive", "OMIM:615095": "Microcephalic primordial dwarfism due to ZNF335 deficiency/Microcephaly 10, primary, autosomal recessive", "OMIM:300888": "Hypothyroidism, central, and testicular enlargement", "ORPHA:329249": "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "OMIM:615025": "Charcot-Marie-Tooth disease, axonal, type 2Q", "ORPHA:329284": "Beta-propeller protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 5", "OMIM:300894": "Beta-propeller protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 5", "ORPHA:1350": "Heart-hand syndrome type 2", "ORPHA:329308": "Fatty acid hydroxylase-associated neurodegeneration", "ORPHA:329314": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "OMIM:617070": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "ORPHA:329329": "Autosomal recessive frontotemporal pachygyria", "OMIM:614407": "Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome", "ORPHA:329336": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "ORPHA:3294": "Extensor tendons of finger anomalies/Tendons, extensor, of fingers, anomalous insertion of", "OMIM:187390": "Extensor tendons of finger anomalies/Tendons, extensor, of fingers, anomalous insertion of", "ORPHA:1352": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "OMIM:615065": "Arthrogryposis, distal, type 5D", "ORPHA:329466": "Autosomal dominant focal dystonia, DYT25 type/Dystonia 25", "OMIM:615073": "Autosomal dominant focal dystonia, DYT25 type/Dystonia 25", "ORPHA:329475": "Spastic paraplegia-Paget disease of bone syndrome", "ORPHA:329478": "Adult-onset distal myopathy due to VCP mutation", "OMIM:611771": "Lipoprotein glomerulopathy", "ORPHA:32960": "Tumor necrosis factor receptor 1 associated periodic syndrome/Periodic fever, familial, autosomal dominant", "OMIM:142680": "Tumor necrosis factor receptor 1 associated periodic syndrome/Periodic fever, familial, autosomal dominant", "OMIM:613174": "Chromosome 5p13 duplication syndrome", "ORPHA:1354": "Heart defects-limb shortening syndrome", "OMIM:615008": "Nephrotic syndrome, type 7", "OMIM:614809": "Nephropathy due to CFHR5 deficiency", "ORPHA:329971": "Generalized juvenile polyposis/juvenile polyposis coli/Juvenile polyposis syndrome", "OMIM:174900": "Generalized juvenile polyposis/juvenile polyposis coli/Juvenile polyposis syndrome", "ORPHA:1355": "Congenital heart defect-round face-developmental delay syndrome/Sonoda syndrome", "OMIM:270460": "Congenital heart defect-round face-developmental delay syndrome/Sonoda syndrome", "CCRD:58": "异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia", "ORPHA:33": "异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia", "OMIM:243500": "异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia", "ORPHA:330": "Congenital factor XII deficiency/Factor XII deficiency", "OMIM:234000": "Congenital factor XII deficiency/Factor XII deficiency", "ORPHA:330001": "Wild type ATTR amyloidosis", "ORPHA:33001": "Lymphedema-distichiasis syndrome/Lymphedema-Distichiasis syndrome", "OMIM:153400": "Lymphedema-distichiasis syndrome/Lymphedema-Distichiasis syndrome", "ORPHA:330021": "Mercury poisoning", "ORPHA:1358": "Carey-Fineman-Ziter syndrome/Carey-Fineman-Ziter syndrome", "OMIM:254940": "Carey-Fineman-Ziter syndrome/Carey-Fineman-Ziter syndrome", "ORPHA:330050": "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 1", "OMIM:614388": "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 1", "ORPHA:330054": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome/Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay", "OMIM:613076": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome/Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay", "OMIM:174770": "Actinic prurigo", "ORPHA:330064": "Chronic actinic dermatitis", "ORPHA:3301": "Tetraamelia-multiple malformations syndrome", "ORPHA:1359": "Carney complex", "ORPHA:3303": "Tetralogy of Fallot/Tetralogy of Fallot", "OMIM:187500": "Tetralogy of Fallot/Tetralogy of Fallot", "ORPHA:3304": "Fallot complex-intellectual disability-growth delay syndrome/Fallot complex with severe mental and growth retardation", "OMIM:601127": "Fallot complex-intellectual disability-growth delay syndrome/Fallot complex with severe mental and growth retardation", "ORPHA:3305": "Tetraploidy", "ORPHA:3306": "Inverted duplicated chromosome 15 syndrome", "OMIM:156400": "Metaphyseal chondrodysplasia, Jansen type", "CCRD:105": "婴儿严重肌阵挛性癫痫/Dravet syndrome; DS; Severe myoclonic epilepsy ininfancy; SMEI/Dravet syndrome/Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "ORPHA:33069": "婴儿严重肌阵挛性癫痫/Dravet syndrome; DS; Severe myoclonic epilepsy ininfancy; SMEI/Dravet syndrome/Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "OMIM:607208": "婴儿严重肌阵挛性癫痫/Dravet syndrome; DS; Severe myoclonic epilepsy ininfancy; SMEI/Dravet syndrome/Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "ORPHA:3307": "Tetrasomy 18p", "ORPHA:3309": "Tetrasomy 5p", "ORPHA:331": "Congenital factor XIII deficiency", "ORPHA:3310": "Tetrasomy 9p", "CCRD:42": "遗传性多发脑梗死性痴呆/Cerebralautosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy; CADASIL/Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy/Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy", "ORPHA:136": "遗传性多发脑梗死性痴呆/Cerebralautosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy; CADASIL/Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy/Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy", "OMIM:125310": "遗传性多发脑梗死性痴呆/Cerebralautosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy; CADASIL/Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy/Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy", "OMIM:253290": "Multiple pterygium syndrome, Lethal type", "ORPHA:33110": "Autosomal agammaglobulinemia/Agammaglobulinemia 1, autosomal recessive", "OMIM:601495": "Autosomal agammaglobulinemia/Agammaglobulinemia 1, autosomal recessive", "ORPHA:33111": "Granulomatous slack skin", "OMIM:612541": "Neutropenia, severe congenital, 4, autosomal recessive", "OMIM:613791": "Masp2 deficiency", "OMIM:613860": "Immunodeficiency due to ficolin 3 deficiency", "ORPHA:3312": "Thalidomide embryopathy", "ORPHA:331206": "Severe combined immunodeficiency due to complete RAG1/2 deficiency/Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "OMIM:601457": "Severe combined immunodeficiency due to complete RAG1/2 deficiency/Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "ORPHA:1361": "Carnosinase deficiency/CARNOSINEMIA", "OMIM:212200": "Carnosinase deficiency/CARNOSINEMIA", "OMIM:611521": "Immunodeficiency 35", "ORPHA:3314": "Thiemann disease, familial form/Thiemann disease", "OMIM:165700": "Thiemann disease, familial form/Thiemann disease", "ORPHA:100077": "Jejunal neuroendocrine tumor", "ORPHA:1366": "Autosomal recessive palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma and congenital alopecia 2", "OMIM:212360": "Autosomal recessive palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma and congenital alopecia 2", "ORPHA:3316": "Thomas syndrome", "OMIM:187770": "Thoracopelvic dysostosis", "ORPHA:3318": "Essential thrombocythemia", "ORPHA:3319": "Congenital amegakaryocytic thrombocytopenia/Amegakaryocytic thrombocytopenia, congenital", "OMIM:604498": "Congenital amegakaryocytic thrombocytopenia/Amegakaryocytic thrombocytopenia, congenital", "OMIM:261000": "Intrinsic factor deficiency", "ORPHA:3320": "Thrombocytopenia-absent radius syndrome/Thrombocytopenia-absent radius syndrome", "OMIM:274000": "Thrombocytopenia-absent radius syndrome/Thrombocytopenia-absent radius syndrome", "ORPHA:33208": "Idiopathic hypersomnia", "ORPHA:3322": "Hoyeraal-Hreidarsson syndrome", "ORPHA:33226": "Waldenström macroglobulinemia/Macroglobulinemia, Waldenstrom, somatic", "OMIM:153600": "Waldenström macroglobulinemia/Macroglobulinemia, Waldenstrom, somatic", "ORPHA:1368": "Cataract-ataxia-deafness syndrome/Cataract-Ataxia-Deafness-Retardation syndrome", "OMIM:212710": "Cataract-ataxia-deafness syndrome/Cataract-Ataxia-Deafness-Retardation syndrome", "ORPHA:3325": "Heparin-induced thrombocytopenia", "OMIM:274265": "Thymic-Renal-Anal-Lung dysplasia", "ORPHA:3327": "Thyrocerebrorenal syndrome/Thyrocerebroretinal syndrome", "OMIM:274240": "Thyrocerebrorenal syndrome/Thyrocerebroretinal syndrome", "ORPHA:33276": "Kaposi sarcoma", "ORPHA:3329": "Tibial aplasia-ectrodactyly syndrome", "ORPHA:333": "Farber disease/Farber lipogranulomatosis", "OMIM:228000": "Farber disease/Farber lipogranulomatosis", "ORPHA:33314": "Jessner lymphocytic infiltration of the skin", "ORPHA:33355": "Reticular dysgenesis/Reticular dysgenesia", "OMIM:267500": "Reticular dysgenesis/Reticular dysgenesia", "ORPHA:1369": "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome/Sengers syndrome", "OMIM:212350": "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome/Sengers syndrome", "ORPHA:33364": "Trichothiodystrophy", "ORPHA:3337": "Primary Fanconi renotubular syndrome/Fanconi renotubular syndrome 1", "OMIM:134600": "Primary Fanconi renotubular syndrome/Fanconi renotubular syndrome 1", "OMIM:217980": "Corpus callosum, agenesis of, with facial anomalies and Robin sequence", "ORPHA:3339": "Toriello-Lacassie-Droste syndrome/Oculoectodermal syndrome", "OMIM:600268": "Toriello-Lacassie-Droste syndrome/Oculoectodermal syndrome", "OMIM:608583": "Atrial fibrillation, familial, 1", "ORPHA:33402": "Pediatric hepatocellular carcinoma", "ORPHA:33408": "Bullous lichen planus", "OMIM:314300": "Torticollis, keloids, cryptorchidism, and renal dysplasia", "ORPHA:3342": "Arterial tortuosity syndrome/Arterial tortuosity syndrome", "OMIM:208050": "Arterial tortuosity syndrome/Arterial tortuosity syndrome", "ORPHA:3344": "Weismann-Netter syndrome/Weismann-Netter syndrome", "OMIM:112350": "Weismann-Netter syndrome/Weismann-Netter syndrome", "ORPHA:33445": "Neuroectodermal melanolysosomal disease/Elejalde disease", "OMIM:256710": "Neuroectodermal melanolysosomal disease/Elejalde disease", "ORPHA:3346": "Tracheal agenesis", "ORPHA:3347": "Mounier-Kühn syndrome/TRACHEOBRONCHOMEGALY", "OMIM:275300": "Mounier-Kühn syndrome/TRACHEOBRONCHOMEGALY", "ORPHA:3348": "Tracheobronchopathia osteochondroplastica", "ORPHA:335": "Congenital fibrinogen deficiency", "ORPHA:3350": "Tremor-nystagmus-duodenal ulcer syndrome/Tremor, nystagmus, and duodenal ulcer", "OMIM:190310": "Tremor-nystagmus-duodenal ulcer syndrome/Tremor, nystagmus, and duodenal ulcer", "OMIM:601453": "Trichodental dysplasia", "ORPHA:3352": "Tricho-dento-osseous syndrome/Trichodentoosseous syndrome", "OMIM:190320": "Tricho-dento-osseous syndrome/Trichodentoosseous syndrome", "ORPHA:1373": "Cataract-aberrant oral frenula-growth delay syndrome", "ORPHA:3353": "Trichodermodysplasia-dental alterations syndrome", "OMIM:148840": "Kleine-Levin hibernation syndrome", "OMIM:260005": "5-@oxoprolinase deficiency", "OMIM:231950": "Glutathioninuria", "ORPHA:33574": "Glutamate-cysteine ligase deficiency/Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto", "OMIM:230450": "Glutamate-cysteine ligase deficiency/Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto", "ORPHA:33577": "Nodular non-suppurative panniculitis", "ORPHA:3361": "Trichodysplasia-xeroderma syndrome", "OMIM:275400": "Oliver-Mcfarlane syndrome", "ORPHA:1375": "Cataract-hypertrichosis-intellectual disability syndrome/Cahmr syndrome", "OMIM:211770": "Cataract-hypertrichosis-intellectual disability syndrome/Cahmr syndrome", "ORPHA:3366": "Non-syndromic metopic craniosynostosis", "ORPHA:3369": "Trigonocephaly-short stature-developmental delay syndrome/Trigonocephaly with short stature and developmental delay", "OMIM:314320": "Trigonocephaly-short stature-developmental delay syndrome/Trigonocephaly with short stature and developmental delay", "ORPHA:337": "Fibrodysplasia ossificans progressiva/Fibrodysplasia ossificans progressiva", "OMIM:135100": "Fibrodysplasia ossificans progressiva/Fibrodysplasia ossificans progressiva", "ORPHA:3374": "Triopia", "ORPHA:3375": "Trisomy X", "ORPHA:3376": "Triploidy", "ORPHA:3377": "Trismus-pseudocamptodactyly syndrome/Arthrogryposis, distal, type 7", "OMIM:158300": "Trismus-pseudocamptodactyly syndrome/Arthrogryposis, distal, type 7", "ORPHA:3378": "Trisomy 13", "ORPHA:3379": "Distal trisomy 17q", "ORPHA:3380": "Trisomy 18", "OMIM:191000": "Trochlea of the humerus, aplasia of", "ORPHA:3386": "American trypanosomiasis", "OMIM:600457": "Hypertrichosis, anterior cervical", "ORPHA:3389": "Tuberculosis", "ORPHA:340": "Hemorrhagic fever-renal syndrome", "ORPHA:3400": "Aorto-ventricular tunnel", "ORPHA:3404": "Ulbright-Hodes syndrome", "ORPHA:3405": "Umbilical cord ulceration-intestinal atresia syndrome", "ORPHA:3406": "Ulerythema ophryogenesis", "ORPHA:3408": "Upington disease/Upington disease", "OMIM:191520": "Upington disease/Upington disease", "ORPHA:3409": "Urban-Rogers-Meyer syndrome", "ORPHA:3411": "Double uterus-hemivagina-renal agenesis syndrome", "ORPHA:3412": "VACTERL with hydrocephalus/Vacterl association with hydrocephalus", "OMIM:276950": "VACTERL with hydrocephalus/Vacterl association with hydrocephalus", "ORPHA:3416": "Hyperostosis corticalis generalisata/Hyperostosis corticalis generalisata", "OMIM:239100": "Hyperostosis corticalis generalisata/Hyperostosis corticalis generalisata", "ORPHA:3417": "Van den Bosch syndrome/Van den bosch syndrome", "OMIM:314500": "Van den Bosch syndrome/Van den bosch syndrome", "CCRD:28": "家族性地中海热/Familial mediterranean fever; FMF/Familial Mediterranean fever/Familial Mediterranean fever, AR", "ORPHA:342": "家族性地中海热/Familial mediterranean fever; FMF/Familial Mediterranean fever/Familial Mediterranean fever, AR", "OMIM:249100": "家族性地中海热/Familial mediterranean fever; FMF/Familial Mediterranean fever/Familial Mediterranean fever, AR", "ORPHA:34217": "Naxos disease/Naxos disease", "OMIM:601214": "Naxos disease/Naxos disease", "ORPHA:3424": "Velo-facial-skeletal syndrome", "ORPHA:3426": "Double outlet right ventricle", "ORPHA:3429": "Verloove Vanhorick-Brubakk syndrome/Cleft-Limb-Heart malformation syndrome", "OMIM:215850": "Verloove Vanhorick-Brubakk syndrome/Cleft-Limb-Heart malformation syndrome", "ORPHA:343": "Hyperimmunoglobulinemia D with periodic fever/Hyper-Igd syndrome", "OMIM:260920": "Hyperimmunoglobulinemia D with periodic fever/Hyper-Igd syndrome", "ORPHA:3433": "Microcephaly-brachydactyly-kyphoscoliosis syndrome", "ORPHA:3434": "MMEP syndrome/Microphthalmia, syndromic 8", "OMIM:601349": "MMEP syndrome/Microphthalmia, syndromic 8", "ORPHA:3437": "Vogt-Koyanagi-Harada disease", "OMIM:223340": "Dk phocomelia syndrome", "ORPHA:3440": "Waardenburg syndrome", "ORPHA:100078": "Ileal neuroendocrine tumor", "ORPHA:137596": "Neurotrophic keratopathy", "ORPHA:3447": "Weaver syndrome/Weaver syndrome", "OMIM:277590": "Weaver syndrome/Weaver syndrome", "ORPHA:3448": "Weaver-Williams syndrome", "ORPHA:3449": "Weill-Marchesani syndrome", "ORPHA:345": "Dissecting cellulitis of the scalp/Perifolliculitis capitis abscedens et suffodiens, familial", "OMIM:260910": "Dissecting cellulitis of the scalp/Perifolliculitis capitis abscedens et suffodiens, familial", "ORPHA:3451": "Infantile spasms syndrome", "OMIM:601954": "Muscular dystrophy, limb-girdle, type 2G", "ORPHA:34515": "FKRP-related limb-girdle muscular dystrophy R9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "OMIM:607155": "FKRP-related limb-girdle muscular dystrophy R9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "ORPHA:34516": "DNAJB6-related limb-girdle muscular dystrophy D1/Muscular dystrophy, limb-girdle, type 1E", "OMIM:603511": "DNAJB6-related limb-girdle muscular dystrophy D1/Muscular dystrophy, limb-girdle, type 1E", "ORPHA:137599": "Herpes simplex virus stromal keratitis", "ORPHA:3452": "Whipple disease", "OMIM:613204": "Muscular dystrophy, congenital, due to integrin alpha-7 deficiency", "CCRD:41": "遗传性低镁血症/Hereditary hypomagnesemia", "OMIM:154020": "Hypomagnesemia 2, renal", "ORPHA:3453": "Autoimmune polyendocrinopathy type 1/Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia", "OMIM:240300": "Autoimmune polyendocrinopathy type 1/Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia", "ORPHA:3454": "Intellectual disability-developmental delay-contractures syndrome, X-linked intellectual disability, Miles-Carpenter type/Wieacker-Wolff syndrome", " ORPHA:85283": "Intellectual disability-developmental delay-contractures syndrome, X-linked intellectual disability, Miles-Carpenter type/Wieacker-Wolff syndrome", "OMIM:314580": "Intellectual disability-developmental delay-contractures syndrome, X-linked intellectual disability, Miles-Carpenter type/Wieacker-Wolff syndrome", "ORPHA:3455": "Wiedemann-Rautenstrauch syndrome/Wiedemann-Rautenstrauch syndrome", "OMIM:264090": "Wiedemann-Rautenstrauch syndrome/Wiedemann-Rautenstrauch syndrome", "ORPHA:3456": "Wildervanck syndrome/Wildervanck syndrome", "OMIM:314600": "Wildervanck syndrome/Wildervanck syndrome", "ORPHA:34587": "Glycogen storage disease due to LAMP-2 deficiency/Danon disease", "OMIM:300257": "Glycogen storage disease due to LAMP-2 deficiency/Danon disease", "ORPHA:3459": "Wilson-Turner syndrome/Wilson-Turner syndrome", "OMIM:309585": "Wilson-Turner syndrome/Wilson-Turner syndrome", "OMIM:604571": "Bare lymphocyte syndrome, type I", "ORPHA:346": "Quinquaud folliculitis decalvans", "ORPHA:3463": "Wolfram syndrome/Wolfram syndrome 1", "OMIM:222300": "Wolfram syndrome/Wolfram syndrome 1", "ORPHA:3464": "Woodhouse-Sakati syndrome/Woodhouse-Sakati syndrome", "OMIM:241080": "Woodhouse-Sakati syndrome/Woodhouse-Sakati syndrome", "ORPHA:3465": "Worster-Drought syndrome/Suprabulbar paresis, congenital", "OMIM:185480": "Worster-Drought syndrome/Suprabulbar paresis, congenital", "OMIM:194350": "Wt limb-blood syndrome", "ORPHA:3469": "XK aprosencephaly syndrome/Aprosencephaly syndrome", "OMIM:207770": "XK aprosencephaly syndrome/Aprosencephaly syndrome", "ORPHA:137605": "Legius syndrome/Legius syndrome", "OMIM:611431": "Legius syndrome/Legius syndrome", "ORPHA:347": "Frasier syndrome/Frasier syndrome", "OMIM:136680": "Frasier syndrome/Frasier syndrome", "ORPHA:3471": "Young syndrome/Young syndrome", "OMIM:279000": "Young syndrome/Young syndrome", "ORPHA:3472": "Yunis-Varon syndrome/Yunis-Varon syndrome", "OMIM:216340": "Yunis-Varon syndrome/Yunis-Varon syndrome", "ORPHA:3473": "Zimmermann-Laband syndrome/Zimmermann-Laband syndrome 1", "OMIM:135500": "Zimmermann-Laband syndrome/Zimmermann-Laband syndrome 1", "ORPHA:3474": "CHIME syndrome/CHIME syndrome", "OMIM:280000": "CHIME syndrome/CHIME syndrome", "ORPHA:348": "Fructose-1,6-bisphosphatase deficiency/Fructose-1,6-bisphosphatase deficiency", "OMIM:229700": "Fructose-1,6-bisphosphatase deficiency/Fructose-1,6-bisphosphatase deficiency", "ORPHA:349": "Fucosidosis/Fucosidosis", "OMIM:230000": "Fucosidosis/Fucosidosis", "CCRD:99": "丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia", "ORPHA:35": "丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia", "OMIM:606054": "丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia", "ORPHA:137608": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "ORPHA:35069": "Infantile neuroaxonal dystrophy/Neurodegeneration with brain iron accumulation 2A", "OMIM:256600": "Infantile neuroaxonal dystrophy/Neurodegeneration with brain iron accumulation 2A", "ORPHA:35078": "T-B+ severe combined immunodeficiency due to JAK3 deficiency/Scid, autosomal recessive, T-Negative/b-Positive type", "OMIM:600802": "T-B+ severe combined immunodeficiency due to JAK3 deficiency/Scid, autosomal recessive, T-Negative/b-Positive type", "ORPHA:35093": "Non-syndromic sagittal craniosynostosis", "ORPHA:35099": "Non-syndromic bicoronal craniosynostosis", "ORPHA:351": "Galactosialidosis/Galactosialidosis", "OMIM:256540": "Galactosialidosis/Galactosialidosis", "ORPHA:35107": "Desmosterolosis/DESMOSTEROLOSIS", "OMIM:602398": "Desmosterolosis/DESMOSTEROLOSIS", "OMIM:266120": "Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to", "ORPHA:35122": "Congenital sucrase-isomaltase deficiency/Sucrase-isomaltase deficiency, congenital", "OMIM:222900": "Congenital sucrase-isomaltase deficiency/Sucrase-isomaltase deficiency, congenital", "ORPHA:35125": "Epidermal nevus syndrome", "ORPHA:35173": "X-linked dominant chondrodysplasia punctata/Chondrodysplasia punctata 2, X-linked dominant", "OMIM:302960": "X-linked dominant chondrodysplasia punctata/Chondrodysplasia punctata 2, X-linked dominant", "CCRD:30": "半乳糖血症/Galactosemia; GAL/Galactosemia", "ORPHA:352": "半乳糖血症/Galactosemia; GAL/Galactosemia", "OMIM:614739": "3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome", "OMIM:614457": "Ichthyosis, spastic quadriplegia, and mental retardation", "ORPHA:352403": "Spectrin-associated autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 14", "OMIM:615386": "Spectrin-associated autosomal recessive cerebellar ataxia/Spinocerebellar ataxia, autosomal recessive 14", "ORPHA:352447": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome/Mitochondrial DNA depletion syndrome 11", "OMIM:615084": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome/Mitochondrial DNA depletion syndrome 11", "ORPHA:352470": "DNA2-related mitochondrial DNA deletion syndrome/Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6", "OMIM:615156": "DNA2-related mitochondrial DNA deletion syndrome/Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6", "ORPHA:352479": "ISPD-related limb-girdle muscular dystrophy R20/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7", "OMIM:616052": "ISPD-related limb-girdle muscular dystrophy R20/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7", "ORPHA:352490": "Autism spectrum disorder due to AUTS2 deficiency/Intellectual developmental disorder, autosomal dominant 26", "OMIM:615834": "Autism spectrum disorder due to AUTS2 deficiency/Intellectual developmental disorder, autosomal dominant 26", "ORPHA:352530": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "OMIM:615395": "Combined oxidative phosphorylation deficiency 16", "ORPHA:352577": "Bainbridge-Ropers syndrome/Bainbridge-Ropers syndrome", "OMIM:615485": "Bainbridge-Ropers syndrome/Bainbridge-Ropers syndrome", "OMIM:611556": "Glycogen storage disease 0, muscle", "ORPHA:352582": "Familial infantile myoclonic epilepsy/Myoclonic epilepsy, familial infantile", "OMIM:605021": "Familial infantile myoclonic epilepsy/Myoclonic epilepsy, familial infantile", "ORPHA:352596": "Progressive myoclonic epilepsy with dystonia", "ORPHA:352641": "Autosomal recessive cerebellar ataxia with late-onset spasticity", "ORPHA:352649": "Brain dopamine-serotonin vesicular transport disease/Parkinsonism-Dystonia, infantile, 2", "OMIM:618049": "Brain dopamine-serotonin vesicular transport disease/Parkinsonism-Dystonia, infantile, 2", "OMIM:615491": "Spastic paraplegia 79, autosomal recessive", "OMIM:127600": "Dyskeratosis, hereditary benign intraepithelial", "OMIM:615225": "Palmoplantar carcinoma, multiple self-healing", "OMIM:615185": "Charcot-Marie-Tooth disease, dominant intermediate F", "ORPHA:352675": "X-linked Charcot-Marie-Tooth disease type 6/Charcot-Marie-Tooth disease, X-linked dominant, 6", "OMIM:300905": "X-linked Charcot-Marie-Tooth disease type 6/Charcot-Marie-Tooth disease, X-linked dominant, 6", "ORPHA:352682": "Cobblestone lissencephaly without muscular or ocular involvement/Lissencephaly 5", "OMIM:615191": "Cobblestone lissencephaly without muscular or ocular involvement/Lissencephaly 5", "OMIM:615362": "Ceroid lipofuscinosis, neuronal, 13", "OMIM:615139": "Facial dysmorphism, immunodeficiency, livedo, and short stature", "OMIM:615147": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome", "ORPHA:352723": "Attenuated Chédiak-Higashi syndrome", "OMIM:611926": "Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis", "OMIM:615179": "Albinism, oculocutaneous, type V", "ORPHA:353": "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5/Muscular dystrophy, limb-girdle, type 2C", "OMIM:253700": "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5/Muscular dystrophy, limb-girdle, type 2C", "OMIM:612949": "Epileptic encephalopathy, early infantile, 39", "OMIM:105250": "Amyloidosis, primary localized cutaneous, 1", "ORPHA:100079": "Neuroendocrine neoplasm of appendix", "ORPHA:137634": "Overgrowth-macrocephaly-facial dysmorphism syndrome", "ORPHA:353277": "Rubinstein-Taybi syndrome due to CREBBP mutations/Rubinstein-Taybi syndrome 1", "OMIM:180849": "Rubinstein-Taybi syndrome due to CREBBP mutations/Rubinstein-Taybi syndrome 1", "ORPHA:353281": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion/Chromosome 16p13.3 deletion syndrome", "OMIM:610543": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion/Chromosome 16p13.3 deletion syndrome", "ORPHA:353284": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency/Rubinstein-Taybi syndrome 2", "OMIM:613684": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency/Rubinstein-Taybi syndrome 2", "ORPHA:353298": "Roifman syndrome/Roifman syndrome", "OMIM:616651": "Roifman syndrome/Roifman syndrome", "ORPHA:353327": "Congenital myasthenic syndromes with glycosylation defect", "ORPHA:354": "GM1 gangliosidosis", "CCRD:31": "戈谢病/Gaucher disease; GD/Gaucher disease", "ORPHA:355": "戈谢病/Gaucher disease; GD/Gaucher disease", "ORPHA:356": "Gerstmann-Straussler-Scheinker syndrome/Gerstmann-Straussler disease", "OMIM:137440": "Gerstmann-Straussler-Scheinker syndrome/Gerstmann-Straussler disease", "ORPHA:35612": "Nanophthalmos", "ORPHA:35664": "ALDH18A1-related De Barsy syndrome/Cutis laxa, autosomal recessive, type IIIA", "OMIM:219150": "ALDH18A1-related De Barsy syndrome/Cutis laxa, autosomal recessive, type IIIA", "CCRD:26": "Erdheim-Chester 病/Erdheim-Chester disease/Erdheim-Chester disease", "ORPHA:35687": "Erdheim-Chester 病/Erdheim-Chester disease/Erdheim-Chester disease", "ORPHA:137667": "Capillary malformation-arteriovenous malformation, Parkes Weber syndrome/Capillary malformation-arteriovenous malformation 1", " ORPHA:90307": "Capillary malformation-arteriovenous malformation, Parkes Weber syndrome/Capillary malformation-arteriovenous malformation 1", "OMIM:608354": "Capillary malformation-arteriovenous malformation, Parkes Weber syndrome/Capillary malformation-arteriovenous malformation 1", "ORPHA:35689": "Primary lateral sclerosis/Primary lateral sclerosis, adult", "OMIM:611637": "Primary lateral sclerosis/Primary lateral sclerosis, adult", "ORPHA:356961": "SLC35A2-CDG/Congenital disorder of glycosylation, type IIm", "OMIM:300896": "SLC35A2-CDG/Congenital disorder of glycosylation, type IIm", "OMIM:615182": "Combined D-2- and L-2-hydroxyglutaric aciduria", "ORPHA:356996": "ANK3-related intellectual disability-sleep disturbance syndrome/Intellectual developmental disorder, autosomal recessive 37", "OMIM:615493": "ANK3-related intellectual disability-sleep disturbance syndrome/Intellectual developmental disorder, autosomal recessive 37", "ORPHA:357001": "19p13.13 microdeletion syndrome/Chromosome 19p13.13 deletion syndrome", "OMIM:613638": "19p13.13 microdeletion syndrome/Chromosome 19p13.13 deletion syndrome", "ORPHA:35701": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency/HMG-CoA synthase-2 deficiency", "OMIM:605911": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency/HMG-CoA synthase-2 deficiency", "OMIM:612718": "Cerebral creatine deficiency syndrome 3", "ORPHA:357043": "Amyotrophic lateral sclerosis type 4/Amyotrophic lateral sclerosis 4, juvenile", "OMIM:602433": "Amyotrophic lateral sclerosis type 4/Amyotrophic lateral sclerosis 4, juvenile", "ORPHA:35706": "Glutaric acidemia type 3/Glutaric aciduria III", "OMIM:231690": "Glutaric acidemia type 3/Glutaric aciduria III", "OMIM:612940": "Cutis laxa, autosomal recessive, type IIB", "ORPHA:357074": "Autosomal recessive cutis laxa type 2, classic type/Cutis laxa, autosomal recessive, type IIA", "OMIM:219200": "Autosomal recessive cutis laxa type 2, classic type/Cutis laxa, autosomal recessive, type IIA", "OMIM:608643": "Aromatic L-amino acid decarboxylase deficiency", "ORPHA:35710": "Glucose-galactose malabsorption/Glucose/galactose malabsorption", "OMIM:606824": "Glucose-galactose malabsorption/Glucose/galactose malabsorption", "ORPHA:357154": "Oral submucous fibrosis", "OMIM:602562": "Mandibulofacial dysostosis with macroblepharon and macrostomia", "ORPHA:357175": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome/Mental retardation, autosomal recessive 35", "OMIM:615162": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome/Mental retardation, autosomal recessive 35", "OMIM:615206": "Card11 immunodeficiency", "OMIM:609162": "Czech dysplasia, Metatarsal type", "OMIM:615207": "Immunodeficiency 56", "OMIM:615170": "Wahab syndrome", "ORPHA:35737": "Morning glory disc anomaly", "CCRD:33": "Gitelman 综合征/Gitelman syndrome; GS/Gitelman syndrome/Gitelman syndrome", "ORPHA:358": "Gitelman 综合征/Gitelman syndrome; GS/Gitelman syndrome/Gitelman syndrome", "OMIM:263800": "Gitelman 综合征/Gitelman syndrome; GS/Gitelman syndrome/Gitelman syndrome", "ORPHA:35858": "Imerslund-Gräsbeck syndrome/Megaloblastic anemia 1", "OMIM:261100": "Imerslund-Gräsbeck syndrome/Megaloblastic anemia 1", "ORPHA:35878": "Hyperinsulinism-hyperammonemia syndrome/Hyperinsulinemic hypoglycemia, familial, 6", "OMIM:606762": "Hyperinsulinism-hyperammonemia syndrome/Hyperinsulinemic hypoglycemia, familial, 6", "OMIM:609060": "Combined oxidative phosphorylation deficiency 1", "ORPHA:36": "Acrocallosal syndrome/Acrocallosal syndrome", "OMIM:200990": "Acrocallosal syndrome/Acrocallosal syndrome", "ORPHA:360": "Glioblastoma", "ORPHA:361": "Familial glucocorticoid deficiency/Glucocorticoid deficiency 1", "OMIM:202200": "Familial glucocorticoid deficiency/Glucocorticoid deficiency 1", "ORPHA:137686": "Asherman syndrome", "ORPHA:36237": "Bullous impetigo", "ORPHA:36258": "Buerger disease/Buerger disease", "OMIM:211480": "Buerger disease/Buerger disease", "OMIM:221200": "Deafness and myopia", "ORPHA:363400": "Severe neurodegenerative syndrome with lipodystrophy/Encephalopathy, progressive, with or without lipodystrophy", "OMIM:615924": "Severe neurodegenerative syndrome with lipodystrophy/Encephalopathy, progressive, with or without lipodystrophy", "OMIM:615368": "Lethal congenital contracture syndrome 5", "OMIM:615281": "Hypomyelination with brainstem and spinal cord involvement and legspasticity", "ORPHA:363417": "Temtamy preaxial brachydactyly syndrome/Temtamy preaxial brachydactyly syndrome", "OMIM:605282": "Temtamy preaxial brachydactyly syndrome/Temtamy preaxial brachydactyly syndrome", "OMIM:615330": "Multiple mitochondrial dysfunctions syndrome 3", "ORPHA:363429": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome", "ORPHA:1377": "Cataract-microcornea syndrome", "ORPHA:363432": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency/Spinocerebellar ataxia, autosomal recessive 18", "OMIM:616204": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency/Spinocerebellar ataxia, autosomal recessive 18", "ORPHA:363444": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome/Beaulieu-Boycott-Innes syndrome", "OMIM:613680": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome/Beaulieu-Boycott-Innes syndrome", "ORPHA:363454": "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy/Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant", "OMIM:615290": "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy/Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant", "OMIM:273300": "Testicular tumor, somatic", "ORPHA:100080": "Neuroendocrine tumor of the colon", "ORPHA:137754": "Neurological conditions associated with aminoacylase 1 deficiency/Aminoacylase 1 deficiency", "OMIM:609924": "Neurological conditions associated with aminoacylase 1 deficiency/Aminoacylase 1 deficiency", "ORPHA:363523": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome/Shaheen syndrome", "OMIM:615328": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome/Shaheen syndrome", "ORPHA:363528": "Intellectual disability-strabismus syndrome/Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "OMIM:615286": "Intellectual disability-strabismus syndrome/Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "OMIM:615651": "Leukoencephalopathy with ataxia", "OMIM:609821": "Bleeding disorder, platelet-type, 8", "OMIM:607598": "Lethal congenital contracture syndrome 2", "ORPHA:363611": "CTCF-related neurodevelopmental disorder/Intellectual developmental disorder, autosomal dominant 21", "OMIM:615502": "CTCF-related neurodevelopmental disorder/Intellectual developmental disorder, autosomal dominant 21", "ORPHA:363618": "LMNA-related cardiocutaneous progeria syndrome", "ORPHA:363623": "GMPPB-related limb-girdle muscular dystrophy R19/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14", "OMIM:615352": "GMPPB-related limb-girdle muscular dystrophy R19/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14", "OMIM:615381": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome", "ORPHA:363654": "X-linked parkinsonism-spasticity syndrome/Parkinsonism with spasticity, X-linked", "OMIM:300911": "X-linked parkinsonism-spasticity syndrome/Parkinsonism with spasticity, X-linked", "OMIM:601812": "Premature aging syndrome, Penttinen type", "ORPHA:36367": "Distal monosomy 1q", "OMIM:611369": "Lethal congenital contracture syndrome 3", "ORPHA:363686": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome/Mental retardation, autosomal dominant 18", "OMIM:615074": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome/Mental retardation, autosomal dominant 18", "OMIM:613845": "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome", "ORPHA:363700": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion/Neurofibromatosis, type I", "OMIM:162200": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion/Neurofibromatosis, type I", "ORPHA:363705": "Craniofaciofrontodigital syndrome", "ORPHA:363710": "Spinocerebellar ataxia type 37/Spinocerebellar ataxia 37", "OMIM:615945": "Spinocerebellar ataxia type 37/Spinocerebellar ataxia 37", "OMIM:300835": "Anemia, X-linked, with or without neutropenia and/or platelet abnormalities", "ORPHA:363741": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome/Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome", "OMIM:601794": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome/Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome", "ORPHA:36382": "Familial cervical artery dissection", "ORPHA:36387": "Generalized epilepsy with febrile seizures-plus/Generalized epilepsy with febrile seizures plus, type 1", "OMIM:604233": "Generalized epilepsy with febrile seizures-plus/Generalized epilepsy with febrile seizures plus, type 1", "ORPHA:363958": "17q21.31 microdeletion syndrome, Koolen-De Vries syndrome/Koolen-De Vries syndrome", " ORPHA:96169": "17q21.31 microdeletion syndrome, Koolen-De Vries syndrome/Koolen-De Vries syndrome", "OMIM:610443": "17q21.31 microdeletion syndrome, Koolen-De Vries syndrome/Koolen-De Vries syndrome", "ORPHA:36397": "Adiposis dolorosa/Adiposis dolorosa", "OMIM:103200": "Adiposis dolorosa/Adiposis dolorosa", "OMIM:613563": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia", "OMIM:615284": "Charcot-Marie-Tooth disease, type 4B3", "OMIM:228980": "Fleck retina, familial benign", "OMIM:613195": "Weill-Marchesani syndrome 4", "OMIM:236750": "Hydrops fetalis, nonimmune", "ORPHA:364": "Glycogen storage disease due to glucose-6-phosphatase deficiency", "ORPHA:364028": "X-linked intellectual disability due to GRIA3 mutations/Mental retardation, X-linked 94", "OMIM:300699": "X-linked intellectual disability due to GRIA3 mutations/Mental retardation, X-linked 94", "ORPHA:36412": "Hypocomplementemic urticarial vasculitis", "ORPHA:36426": "Stevens-Johnson syndrome", "ORPHA:137817": "Arachnoiditis", "CCRD:35.3": "糖原累积病II型/Glycogen storage disease II/Glycogen storage disease due to acid maltase deficiency/Glycogen storage disease II", "ORPHA:365": "糖原累积病II型/Glycogen storage disease II/Glycogen storage disease due to acid maltase deficiency/Glycogen storage disease II", "OMIM:232300": "糖原累积病II型/Glycogen storage disease II/Glycogen storage disease due to acid maltase deficiency/Glycogen storage disease II", "ORPHA:366": "Glycogen storage disease due to glycogen debranching enzyme deficiency/Glycogen storage disease III", "OMIM:232400": "Glycogen storage disease due to glycogen debranching enzyme deficiency/Glycogen storage disease III", "ORPHA:367": "Glycogen storage disease due to glycogen branching enzyme deficiency", "ORPHA:368": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency/Glycogen storage disease V", "OMIM:232600": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency/Glycogen storage disease V", "ORPHA:36899": "Myoclonus-dystonia syndrome", "ORPHA:369": "Glycogen storage disease due to liver glycogen phosphorylase deficiency/Glycogen storage disease VI", "OMIM:232700": "Glycogen storage disease due to liver glycogen phosphorylase deficiency/Glycogen storage disease VI", "ORPHA:36913": "Autoimmune hypoparathyroidism", "ORPHA:369837": "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 3", "OMIM:615398": "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome/Multiple congenital anomalies-hypotonia-seizures syndrome 3", "ORPHA:369840": "TRAPPC11-related limb-girdle muscular dystrophy R18/Muscular dystrophy, limb-girdle, autosomal recessive 18", "OMIM:615356": "TRAPPC11-related limb-girdle muscular dystrophy R18/Muscular dystrophy, limb-girdle, autosomal recessive 18", "ORPHA:369847": "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "ORPHA:137831": "X-linked intellectual disability-cerebellar hypoplasia syndrome/Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance", "OMIM:300486": "X-linked intellectual disability-cerebellar hypoplasia syndrome/Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance", "OMIM:615285": "Neutropenia, severe congenital, 5, autosomal recessive", "OMIM:616084": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay", "OMIM:615376": "Charcot-Marie-Tooth disease, recessive intermediate C", "ORPHA:369873": "Obesity due to SIM1 deficiency", "ORPHA:369891": "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency/Mental retardation and distinctive facial features with or without cardiac defects", "OMIM:616789": "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency/Mental retardation and distinctive facial features with or without cardiac defects", "OMIM:615471": "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)", "OMIM:615440": "Combined oxidative phosphorylation deficiency 17", "OMIM:615809": "Pontocerebellar hypoplasia, type 9", "ORPHA:137834": "Frank-Ter Haar syndrome/Frank-ter Haar syndrome", "OMIM:249420": "Frank-Ter Haar syndrome/Frank-ter Haar syndrome", "ORPHA:369929": "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome/Primary aldosteronism, seizures, and neurologic abnormalities", "OMIM:615474": "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome/Primary aldosteronism, seizures, and neurologic abnormalities", "ORPHA:369939": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome/Deafness, dystonia, and cerebral hypomyelination", "OMIM:300475": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome/Deafness, dystonia, and cerebral hypomyelination", "ORPHA:369950": "Intellectual disability-seizures-macrocephaly-obesity syndrome", "OMIM:614857": "Methylmalonic aciduria and homocystinuria, Cblj type", "OMIM:309541": "Methylmalonic acidemia and homocysteinemia, Cblx type", "OMIM:615458": "Microcornea, myopic chorioretinal atrophy, and telecanthus", "OMIM:615508": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige", "ORPHA:100081": "Neuroendocrine tumor of the rectum", "ORPHA:37": "Acrodermatitis enteropathica/Acrodermatitis enteropathica, Zinc-Deficiency type", "OMIM:201100": "Acrodermatitis enteropathica/Acrodermatitis enteropathica, Zinc-Deficiency type", "ORPHA:370": "Glycogen storage disease due to phosphorylase kinase deficiency", "ORPHA:370022": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome/Poretti-Boltshauser syndrome", "OMIM:615960": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome/Poretti-Boltshauser syndrome", "ORPHA:137867": "Madras motor neuron disease", "ORPHA:370079": "Proximal 16p11.2 microduplication syndrome", "OMIM:615438": "Infantile liver failure syndrome 1", "ORPHA:370091": "Oculocutaneous albinism type 5/Albinism, oculocutaneous, type V", "OMIM:615312": "Oculocutaneous albinism type 5/Albinism, oculocutaneous, type V", "ORPHA:370097": "Oculocutaneous albinism type 6", "ORPHA:370103": "Primary dystonia, DYT17 type/Dystonia 17, torsion, autosomal recessive", "OMIM:612406": "Primary dystonia, DYT17 type/Dystonia 17, torsion, autosomal recessive", "ORPHA:137888": "Auriculocondylar syndrome", "ORPHA:370348": "Peripheral primitive neuroectodermal tumor", "ORPHA:37042": "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome/Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "OMIM:304790": "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome/Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "ORPHA:370921": "STT3A-CDG/Congenital disorder of glycosylation, type Iw", "OMIM:615596": "STT3A-CDG/Congenital disorder of glycosylation, type Iw", "ORPHA:370924": "STT3B-CDG/Congenital disorder of glycosylation, type Ix", "OMIM:615597": "STT3B-CDG/Congenital disorder of glycosylation, type Ix", "OMIM:243060": "Male infertility with large-headed, multiflagellar, polyploid spermatozoa", "ORPHA:370927": "SSR4-CDG/Congenital disorder of glycosylation, type Iy", "OMIM:300934": "SSR4-CDG/Congenital disorder of glycosylation, type Iy", "ORPHA:370930": "XYLT1-CDG", "ORPHA:370943": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome/Arthrogryposis, mental retardation, and seizures", "OMIM:615553": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome/Arthrogryposis, mental retardation, and seizures", "ORPHA:370959": "Congenital muscular dystrophy with cerebellar involvement", "ORPHA:370968": "Congenital muscular dystrophy with intellectual disability", "ORPHA:370980": "Congenital muscular dystrophy without intellectual disability", "ORPHA:137898": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome/Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation", "OMIM:611105": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome/Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation", "ORPHA:371": "Glycogen storage disease due to muscle phosphofructokinase deficiency/Glycogen storage disease VII", "OMIM:232800": "Glycogen storage disease due to muscle phosphofructokinase deficiency/Glycogen storage disease VII", "ORPHA:137902": "Isolated optic nerve hypoplasia/aplasia/Optic nerve hypoplasia", "OMIM:165550": "Isolated optic nerve hypoplasia/aplasia/Optic nerve hypoplasia", "ORPHA:371428": "Multicentric osteolysis-nodulosis-arthropathy spectrum", "ORPHA:37202": "Interstitial cystitis", "ORPHA:373": "Simpson-Golabi-Behmel syndrome/Simpson-Golabi-Behmel syndrome, type 1", "OMIM:312870": "Simpson-Golabi-Behmel syndrome/Simpson-Golabi-Behmel syndrome, type 1", "OMIM:164210": "Hemifacial microsomia", "ORPHA:375": "Anti-glomerular basement membrane disease/Goodpasture syndrome", "OMIM:233450": "Anti-glomerular basement membrane disease/Goodpasture syndrome", "ORPHA:37553": "Andersen-Tawil syndrome/Andersen cardiodysrhythmic periodic paralysis", "OMIM:170390": "Andersen-Tawil syndrome/Andersen cardiodysrhythmic periodic paralysis", "OMIM:611719": "Combined oxidative phosphorylation deficiency 5", "ORPHA:376": "Gordon syndrome/Arthrogryposis, distal, type 3", "OMIM:114300": "Gordon syndrome/Arthrogryposis, distal, type 3", "ORPHA:37612": "Episodic ataxia type 1/Episodic ataxia, type 1", "OMIM:160120": "Episodic ataxia type 1/Episodic ataxia, type 1", "ORPHA:377": "Gorlin syndrome/Basal cell nevus syndrome", "OMIM:109400": "Gorlin syndrome/Basal cell nevus syndrome", "ORPHA:37748": "Schnitzler syndrome", "ORPHA:379": "Chronic granulomatous disease", "ORPHA:38": "Acrokeratoelastoidosis of Costa/ACROKERATOELASTOIDOSIS", "OMIM:101850": "Acrokeratoelastoidosis of Costa/ACROKERATOELASTOIDOSIS", "ORPHA:380": "Greig cephalopolysyndactyly syndrome/Greig cephalopolysyndactyly syndrome", "OMIM:175700": "Greig cephalopolysyndactyly syndrome/Greig cephalopolysyndactyly syndrome", "ORPHA:381": "Griscelli syndrome", "ORPHA:382": "Guanidinoacetate methyltransferase deficiency/Cerebral creatine deficiency syndrome 2", "OMIM:612736": "Guanidinoacetate methyltransferase deficiency/Cerebral creatine deficiency syndrome 2", "OMIM:304400": "Deafness, X-linked 2", "ORPHA:384": "Huriez syndrome/Huriez syndrome", "OMIM:181600": "Huriez syndrome/Huriez syndrome", "ORPHA:385": "Neurodegeneration with brain iron accumulation", "ORPHA:388": "Hirschsprung disease", "OMIM:222748": "Dihydropyrimidinuria", "CCRD:60": "朗格汉斯细胞组织细胞增生症/Langerhans cell histiocytosis; LCH", "ORPHA:39041": "Omenn syndrome/Omenn syndrome", "OMIM:603554": "Omenn syndrome/Omenn syndrome", "ORPHA:137914": "Choanal atresia", "ORPHA:39044": "Uveal melanoma/Melanoma, uveal", "OMIM:155720": "Uveal melanoma/Melanoma, uveal", "ORPHA:391": "Classic Hodgkin lymphoma/Lymphoma, hodgkin", "OMIM:236000": "Classic Hodgkin lymphoma/Lymphoma, hodgkin", "ORPHA:391307": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome/Mental retardation, autosomal recessive 39", "OMIM:615541": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome/Mental retardation, autosomal recessive 39", "OMIM:613796": "Mycobacterial and viral infections, susceptibility to, autosomal recessive", "OMIM:302030": "Calvarial hyperostosis", "OMIM:615578": "Combined oxidative phosphorylation deficiency 18", "ORPHA:100082": "Neuroendocrine tumor of anal canal", "OMIM:616684": "Charcot-Marie-Tooth disease, type 4K", "ORPHA:391372": "Intellectual disability-severe speech delay-mild dysmorphism syndrome/Mental retardation with language impairment and with or without autistic features", "OMIM:613670": "Intellectual disability-severe speech delay-mild dysmorphism syndrome/Mental retardation with language impairment and with or without autistic features", "OMIM:615574": "Asparagine synthetase deficiency", "OMIM:615040": "Episodic pain syndrome, familial, 1", "OMIM:615552": "Episodic pain syndrome, familial, 3", "OMIM:615548": "Neuropathy, hereditary sensory and autonomic, type VII", "ORPHA:391411": "Atypical juvenile parkinsonism", "ORPHA:391417": "HSD10 disease/HSD10 mitochondrial disease", "OMIM:300438": "HSD10 disease/HSD10 mitochondrial disease", "ORPHA:391474": "Frontorhiny/Frontonasal dysplasia 1", "OMIM:136760": "Frontorhiny/Frontonasal dysplasia 1", "ORPHA:391487": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome/Immunodeficiency 31C", "OMIM:614162": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome/Immunodeficiency 31C", "ORPHA:391641": "Feingold syndrome type 1/Feingold syndrome 1", "OMIM:164280": "Feingold syndrome type 1/Feingold syndrome 1", "ORPHA:391646": "Feingold syndrome type 2/Feingold syndrome 2", "OMIM:614326": "Feingold syndrome type 2/Feingold syndrome 2", "CCRD:46": "纯合子家族性高胆固醇血症/Familial hypercholesterolemia; FH/Homozygous familial hypercholesterolemia", "ORPHA:391665": "纯合子家族性高胆固醇血症/Familial hypercholesterolemia; FH/Homozygous familial hypercholesterolemia", "OMIM:614800": "Short stature, optic nerve atrophy, and pelger-huet anomaly", "CCRD:95": "原发性遗传性肌张力不全/Primary Hereditary Dystonia; DYT", "ORPHA:392": "Holt-Oram syndrome/Holt-Oram syndrome", "OMIM:142900": "Holt-Oram syndrome/Holt-Oram syndrome", "ORPHA:393": "46,XX testicular disorder of sex development/46XX sex reversal 1", "OMIM:400045": "46,XX testicular disorder of sex development/46XX sex reversal 1", "ORPHA:394": "Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency", "OMIM:236200": "Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency", "ORPHA:395": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency/Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity", "OMIM:236250": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency/Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity", "ORPHA:396": "Chronic hiccup", "ORPHA:397": "Giant cell arteritis/Temporal arteritis", "OMIM:187360": "Giant cell arteritis/Temporal arteritis", "ORPHA:397612": "Macrocephaly-developmental delay syndrome/Intellectual developmental disorder, autosomal recessive 41", "OMIM:615637": "Macrocephaly-developmental delay syndrome/Intellectual developmental disorder, autosomal recessive 41", "OMIM:615703": "Morbid obesity and spermatogenic failure", "OMIM:609218": "Foveal hypoplasia 2", "OMIM:602471": "Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities", "ORPHA:397685": "Familial hyperprolactinemia/Hyperprolactinemia", "OMIM:615555": "Familial hyperprolactinemia/Hyperprolactinemia", "ORPHA:397695": "3q27.3 microdeletion syndrome", "ORPHA:397709": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome/Spinocerebellar ataxia, autosomal recessive 20", "OMIM:616354": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome/Spinocerebellar ataxia, autosomal recessive 20", "ORPHA:137935": "Laryngotracheal angioma", "ORPHA:397715": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy", "ORPHA:397725": "COASY protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 6", "OMIM:615643": "COASY protein-associated neurodegeneration/Neurodegeneration with brain iron accumulation 6", "OMIM:616280": "Charcot-Marie-Tooth disease, axonal, type 2U", "ORPHA:397744": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome/Peripheral neuropathy, myopathy, hoarseness, and hearing loss", "OMIM:614369": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome/Peripheral neuropathy, myopathy, hoarseness, and hearing loss", "OMIM:616079": "Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities", "OMIM:615592": "Immunodeficiency 15", "ORPHA:138": "CHARGE syndrome/Charge syndrome", "OMIM:214800": "CHARGE syndrome/Charge syndrome", "OMIM:615709": "Sacral agenesis with vertebral anomalies", "ORPHA:397933": "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome", "ORPHA:397941": "MAN1B1-CDG", "ORPHA:397946": "Autosomal spastic paraplegia type 58/Spastic ataxia 2, autosomal recessive", "OMIM:611302": "Autosomal spastic paraplegia type 58/Spastic ataxia 2, autosomal recessive", "ORPHA:397951": "Microcephaly-thin corpus callosum-intellectual disability syndrome/Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity", "OMIM:615599": "Microcephaly-thin corpus callosum-intellectual disability syndrome/Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity", "OMIM:615387": "Immunodeficiency 7, TCR-alpha/beta deficient", "OMIM:615468": "Immunodeficiency 12", "OMIM:615490": "Charcot-Marie-Tooth disease, axonal, type 2R", "ORPHA:397973": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome/Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies", "OMIM:606772": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome/Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies", "ORPHA:1380": "Cataract-nephropathy-encephalopathy syndrome/Crome syndrome", "OMIM:218900": "Cataract-nephropathy-encephalopathy syndrome/Crome syndrome", "ORPHA:398069": "MAGEL2-related Prader-Willi-like syndrome/Schaaf-Yang syndrome", "OMIM:615547": "MAGEL2-related Prader-Willi-like syndrome/Schaaf-Yang syndrome", "ORPHA:398073": "Prader-Willi-like syndrome", "OMIM:185020": "Cryohydrocytosis", "ORPHA:39812": "Graft versus host disease", "ORPHA:398124": "Neonatal lupus erythematosus", "ORPHA:398156": "Oculoauriculofrontonasal syndrome", "ORPHA:398173": "Focal facial dermal dysplasia type II", "ORPHA:398189": "Focal facial dermal dysplasia type IV/Focal facial dermal dysplasia 4", "OMIM:614974": "Focal facial dermal dysplasia type IV/Focal facial dermal dysplasia 4", "CCRD:47": "亨廷顿舞蹈病/Huntington’s disease; HD/Huntington disease/Huntington disease", "ORPHA:399": "亨廷顿舞蹈病/Huntington’s disease; HD/Huntington disease/Huntington disease", "OMIM:143100": "亨廷顿舞蹈病/Huntington’s disease; HD/Huntington disease/Huntington disease", "ORPHA:399058": "Alpha-B crystallin-related late-onset myopathy/Myopathy, myofibrillar, 2, mfm2", "OMIM:608810": "Alpha-B crystallin-related late-onset myopathy/Myopathy, myofibrillar, 2, mfm2", "ORPHA:399081": "KLHL9-related early-onset distal myopathy", "ORPHA:399086": "Finnish upper limb-onset distal myopathy/Myopathy, distal 3", "OMIM:610099": "Finnish upper limb-onset distal myopathy/Myopathy, distal 3", "ORPHA:100083": "Laryngeal neuroendocrine tumor", "ORPHA:399096": "Distal anoctaminopathy/Miyoshi muscular dystrophy 3", "OMIM:613319": "Distal anoctaminopathy/Miyoshi muscular dystrophy 3", "ORPHA:399103": "Distal nebulin myopathy", "ORPHA:399180": "Secondary non-traumatic avascular necrosis", "ORPHA:399805": "Male infertility with azoospermia or oligozoospermia due to single gene mutation", "ORPHA:399808": "Male infertility with teratozoospermia due to single gene mutation", "ORPHA:40": "Acromesomelic dysplasia, Maroteaux type/Acromesomelic dysplasia, Maroteaux type", "OMIM:602875": "Acromesomelic dysplasia, Maroteaux type/Acromesomelic dysplasia, Maroteaux type", "ORPHA:1381": "Cataract-intellectual disability-anal atresia-urinary defects syndrome", "OMIM:615715": "Bone marrow failure syndrome 2", "ORPHA:401768": "Proximal myopathy with extrapyramidal signs/Myopathy with extrapyramidal signs", "OMIM:615673": "Proximal myopathy with extrapyramidal signs/Myopathy with extrapyramidal signs", "ORPHA:401777": "Optic atrophy-intellectual disability syndrome/Bosch-Boonstra-Schaaf optic atrophy syndrome", "OMIM:615722": "Optic atrophy-intellectual disability syndrome/Bosch-Boonstra-Schaaf optic atrophy syndrome", "ORPHA:1383": "Cataract-deafness-hypogonadism syndrome", "ORPHA:401780": "Autosomal recessive spastic paraplegia type 61/Spastic paraplegia 61, autosomal recessive", "OMIM:615685": "Autosomal recessive spastic paraplegia type 61/Spastic paraplegia 61, autosomal recessive", "ORPHA:401785": "Autosomal recessive spastic paraplegia type 62/Spastic paraplegia 62, autosomal recessive", "OMIM:615681": "Autosomal recessive spastic paraplegia type 62/Spastic paraplegia 62, autosomal recessive", "ORPHA:401795": "Autosomal recessive spastic paraplegia type 59", "ORPHA:401800": "Autosomal recessive spastic paraplegia type 60", "ORPHA:401805": "Autosomal recessive spastic paraplegia type 63/Spastic paraplegia 63, autosomal recessive", "OMIM:615686": "Autosomal recessive spastic paraplegia type 63/Spastic paraplegia 63, autosomal recessive", "ORPHA:401810": "Autosomal recessive spastic paraplegia type 64/Spastic paraplegia 64, autosomal recessive", "OMIM:615683": "Autosomal recessive spastic paraplegia type 64/Spastic paraplegia 64, autosomal recessive", "ORPHA:401815": "Autosomal recessive spastic paraplegia type 66", "ORPHA:401820": "Autosomal recessive spastic paraplegia type 67", "ORPHA:401830": "Autosomal recessive spastic paraplegia type 69", "ORPHA:401835": "Autosomal recessive spastic paraplegia type 70", "ORPHA:1387": "Cataract-intellectual disability-hypogonadism syndrome/Martsolf syndrome 1", "OMIM:212720": "Cataract-intellectual disability-hypogonadism syndrome/Martsolf syndrome 1", "ORPHA:401840": "Autosomal recessive spastic paraplegia type 71", "ORPHA:401849": "Autosomal spastic paraplegia type 72/Spastic paraplegia 72, autosomal recessive", "OMIM:615625": "Autosomal spastic paraplegia type 72/Spastic paraplegia 72, autosomal recessive", "OMIM:614462": "Hyperglycinemia, lactic acidosis, and seizures", "OMIM:616299": "Lipoyltransferase 1 deficiency", "ORPHA:401866": "Childhood-onset spasticity with hyperglycinemia/Spasticity, childhood-onset, with hyperglycinemia", "OMIM:616859": "Childhood-onset spasticity with hyperglycinemia/Spasticity, childhood-onset, with hyperglycinemia", "OMIM:605711": "Multiple mitochondrial dysfunctions syndrome 1", "OMIM:614299": "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia", "ORPHA:401901": "Huntington disease-like syndrome due to C9ORF72 expansions", "ORPHA:401911": "AXIN2-related attenuated familial adenomatous polyposis", "ORPHA:1388": "Catel-Manzke syndrome/Catel-Manzke syndrome", "OMIM:616145": "Catel-Manzke syndrome/Catel-Manzke syndrome", "ORPHA:401942": "Familial median cleft of the upper and lower lips/Orofacial cleft 14", "OMIM:615892": "Familial median cleft of the upper and lower lips/Orofacial cleft 14", "ORPHA:401945": "Moyamoya disease with early-onset achalasia/Moyamoya disease 6 with achalasia", "OMIM:615750": "Moyamoya disease with early-onset achalasia/Moyamoya disease 6 with achalasia", "OMIM:615751": "Hyperammonemia due to carbonic anhydrase VA deficiency", "ORPHA:401953": "Episodic ataxia with slurred speech/Episodic ataxia, type 8", "OMIM:616055": "Episodic ataxia with slurred speech/Episodic ataxia, type 8", "OMIM:610100": "Giant axonal neuropathy, autosomal dominant", "ORPHA:401973": "MEND syndrome/Mend syndrome", "OMIM:300960": "MEND syndrome/Mend syndrome", "ORPHA:1389": "Cortical blindness-intellectual disability-polydactyly syndrome", "OMIM:613320": "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type", "OMIM:614817": "Interstitial nephritis, karyomegalic", "OMIM:615735": "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse", "OMIM:308050": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "ORPHA:402075": "Familial bicuspid aortic valve/Aortic valve disease 1", "OMIM:109730": "Familial bicuspid aortic valve/Aortic valve disease 1", "OMIM:613668": "Microcephaly, postnatal progressive, with seizures and brain atrophy", "ORPHA:403": "Familial hyperaldosteronism type I/Aldosteronism, glucocorticoid-remediable", "OMIM:103900": "Familial hyperaldosteronism type I/Aldosteronism, glucocorticoid-remediable", "ORPHA:40366": "Acitretin/etretinate embryopathy", "ORPHA:100084": "Middle ear neuroendocrine tumor", "ORPHA:1390": "Night blindness-skeletal anomalies-dysmorphism syndrome", "ORPHA:404": "Familial hyperaldosteronism type II/Hyperaldosteronism, familial, type II", "OMIM:605635": "Familial hyperaldosteronism type II/Hyperaldosteronism, familial, type II", "OMIM:615760": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy", "ORPHA:404440": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency/Intellectual developmental disorder, autosomal dominant 23", "OMIM:615761": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency/Intellectual developmental disorder, autosomal dominant 23", "ORPHA:404443": "Tatton-Brown-Rahman syndrome/Tatton-Brown-Rahman syndrome", "OMIM:615879": "Tatton-Brown-Rahman syndrome/Tatton-Brown-Rahman syndrome", "ORPHA:404448": "ADNP syndrome/Helsmoortel-van der Aa syndrome", "OMIM:615873": "ADNP syndrome/Helsmoortel-van der Aa syndrome", "ORPHA:404454": "Alacrimia-choreoathetosis-liver dysfunction syndrome/Congenital disorder of deglycosylation 1", "OMIM:615273": "Alacrimia-choreoathetosis-liver dysfunction syndrome/Congenital disorder of deglycosylation 1", "OMIM:613834": "Multisystemic smooth muscle dysfunction syndrome", "ORPHA:404473": "Severe intellectual disability-progressive spastic diplegia syndrome/Neurodevelopmental disorder with spastic diplegia and visual defects", "OMIM:615075": "Severe intellectual disability-progressive spastic diplegia syndrome/Neurodevelopmental disorder with spastic diplegia and visual defects", "OMIM:618272": "Global developmental delay, lung cysts, overgrowth, and wilms tumor", "ORPHA:404493": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency/Spinocerebellar ataxia, autosomal recessive 23", "OMIM:616949": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency/Spinocerebellar ataxia, autosomal recessive 23", "ORPHA:404499": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency/Spinocerebellar ataxia, autosomal recessive 15", "OMIM:615705": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency/Spinocerebellar ataxia, autosomal recessive 15", "OMIM:615688": "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome", "ORPHA:405": "Familial hypocalciuric hypercalcemia", "ORPHA:407": "Glycine encephalopathy/Glycine encephalopathy", "OMIM:605899": "Glycine encephalopathy/Glycine encephalopathy", "ORPHA:408": "Isolated glycerol kinase deficiency/Glycerol kinase deficiency", "OMIM:307030": "Isolated glycerol kinase deficiency/Glycerol kinase deficiency", "ORPHA:409": "Hyperkeratosis lenticularis perstans/Hyperkeratosis lenticularis perstans", "OMIM:144150": "Hyperkeratosis lenticularis perstans/Hyperkeratosis lenticularis perstans", "ORPHA:41": "Dyschromatosis symmetrica hereditaria/Dyschromatosis symmetrica hereditaria 1", "OMIM:127400": "Dyschromatosis symmetrica hereditaria/Dyschromatosis symmetrica hereditaria 1", "ORPHA:411493": "Pontocerebellar hypoplasia type 10/Pontocerebellar hypoplasia, type 10", "OMIM:615803": "Pontocerebellar hypoplasia type 10/Pontocerebellar hypoplasia, type 10", "ORPHA:411590": "Wolfram-like syndrome/Wolfram-Like syndrome, autosomal dominant", "OMIM:614296": "Wolfram-like syndrome/Wolfram-Like syndrome, autosomal dominant", "ORPHA:411593": "Insulin autoimmune syndrome", "ORPHA:411602": "Hereditary late-onset Parkinson disease", "ORPHA:411629": "Infantile nephropathic cystinosis", "ORPHA:411634": "Juvenile nephropathic cystinosis/Cystinosis, late-onset juvenile or adolescent nephropathic", "OMIM:219900": "Juvenile nephropathic cystinosis/Cystinosis, late-onset juvenile or adolescent nephropathic", "ORPHA:411641": "Ocular cystinosis/Cystinosis, adult nonnephropathic", "OMIM:219750": "Ocular cystinosis/Cystinosis, adult nonnephropathic", "ORPHA:411709": "Renal agenesis", "OMIM:615026": "Riboflavin deficiency", "ORPHA:411777": "Generalized eruptive keratoacanthoma", "ORPHA:411986": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome/Developmental and epileptic encephalopathy 23", "OMIM:615859": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome/Developmental and epileptic encephalopathy 23", "ORPHA:412": "Dysbetalipoproteinemia", "OMIM:601552": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs", "ORPHA:412057": "Autosomal recessive cerebellar ataxia due to STUB1 deficiency/Spinocerebellar ataxia, autosomal recessive 16", "OMIM:615768": "Autosomal recessive cerebellar ataxia due to STUB1 deficiency/Spinocerebellar ataxia, autosomal recessive 16", "ORPHA:412066": "PRKAR1B-related neurodegenerative dementia with intermediate filaments", "ORPHA:412069": "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome/Xia-Gibbs syndrome", "OMIM:615829": "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome/Xia-Gibbs syndrome", "OMIM:615425": "Epidermolysis bullosa simplex, autosomal recessive 2", "OMIM:615028": "Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive", "OMIM:125350": "Dental noneruption", "ORPHA:412217": "Dystonia-aphonia syndrome", "ORPHA:414": "Gyrate atrophy of choroid and retina/Gyrate atrophy of choroid and retina with or without ornithinemia", "OMIM:258870": "Gyrate atrophy of choroid and retina/Gyrate atrophy of choroid and retina with or without ornithinemia", "CCRD:48": "HHH 综合征(高鸟氨酸血症-高氨血症-同型瓜氨酸尿症)/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHHS/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome/Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome", "ORPHA:415": "HHH 综合征(高鸟氨酸血症-高氨血症-同型瓜氨酸尿症)/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHHS/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome/Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome", "OMIM:238970": "HHH 综合征(高鸟氨酸血症-高氨血症-同型瓜氨酸尿症)/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHHS/Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome/Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome", "ORPHA:416": "Primary hyperoxaluria", "ORPHA:417": "Neonatal severe primary hyperparathyroidism/Hyperparathyroidism, neonatal severe", "OMIM:239200": "Neonatal severe primary hyperparathyroidism/Hyperparathyroidism, neonatal severe", "ORPHA:41751": "Bietti crystalline dystrophy/Bietti crystalline corneoretinal dystrophy", "OMIM:210370": "Bietti crystalline dystrophy/Bietti crystalline corneoretinal dystrophy", "ORPHA:419": "Hyperprolinemia type 1/Hyperprolinemia, type I", "OMIM:239500": "Hyperprolinemia type 1/Hyperprolinemia, type I", "CCRD:70": "中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of", "ORPHA:42": "中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of", "OMIM:201450": "中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of", "ORPHA:420179": "Malan overgrowth syndrome/Malan syndrome", "OMIM:614753": "Malan overgrowth syndrome/Malan syndrome", "ORPHA:420485": "Cranio-cervical dystonia with laryngeal and upper-limb involvement/Dystonia 24", "OMIM:615034": "Cranio-cervical dystonia with laryngeal and upper-limb involvement/Dystonia 24", "ORPHA:420492": "Adult-onset cervical dystonia, DYT23 type/Dystonia 23", "OMIM:614860": "Adult-onset cervical dystonia, DYT23 type/Dystonia 23", "ORPHA:420561": "Temple-Baraitser syndrome/Temple-Baraitser syndrome", "OMIM:611816": "Temple-Baraitser syndrome/Temple-Baraitser syndrome", "OMIM:615888": "Bleeding disorder, platelet-type, 18", "OMIM:615897": "Immunodeficiency 24", "OMIM:615849": "Culler-Jones syndrome", "OMIM:159595": "Myeloproliferative syndrome, transient", "ORPHA:42062": "Iminoglycinuria/IMINOGLYCINURIA", "OMIM:242600": "Iminoglycinuria/IMINOGLYCINURIA", "OMIM:616099": "Palmoplantar keratoderma and woolly hair", "OMIM:617014": "Neutropenia, severe congenital, 7, autosomal recessive", "OMIM:615917": "Combined oxidative phosphorylation deficiency 20", "OMIM:615918": "Combined oxidative phosphorylation deficiency 21", "ORPHA:420741": "RIDDLE syndrome/Riddle syndrome", "OMIM:611943": "RIDDLE syndrome/Riddle syndrome", "ORPHA:420794": "Cono-spondylar dysplasia", "ORPHA:100085": "Primary hepatic neuroendocrine carcinoma", "CCRD:54": "特发性肺动脉高压/Idiopathic pulmonary arterial hypertension; IPAH/Idiopathic/heritable pulmonary arterial hypertension/Pulmonary hypertension, primary, 1", "ORPHA:422": "特发性肺动脉高压/Idiopathic pulmonary arterial hypertension; IPAH/Idiopathic/heritable pulmonary arterial hypertension/Pulmonary hypertension, primary, 1", "OMIM:178600": "特发性肺动脉高压/Idiopathic pulmonary arterial hypertension; IPAH/Idiopathic/heritable pulmonary arterial hypertension/Pulmonary hypertension, primary, 1", "ORPHA:423": "Malignant hyperthermia of anesthesia/Malignant hyperthermia, susceptibility to, 1", "OMIM:145600": "Malignant hyperthermia of anesthesia/Malignant hyperthermia, susceptibility to, 1", "ORPHA:423275": "Spinocerebellar ataxia type 40/Spinocerebellar ataxia 40", "OMIM:616053": "Spinocerebellar ataxia type 40/Spinocerebellar ataxia 40", "ORPHA:423296": "Spinocerebellar ataxia type 38/Spinocerebellar ataxia 38", "OMIM:615957": "Spinocerebellar ataxia type 38/Spinocerebellar ataxia 38", "OMIM:616022": "Neutropenia, severe congenital, 6, autosomal recessive", "OMIM:616029": "Ectodermal dysplasia/short stature syndrome", "OMIM:252600": "Mucolipidosis III alpha/beta", "ORPHA:1393": "Cerebrocostomandibular syndrome/Cerebrocostomandibular syndrome", "OMIM:117650": "Cerebrocostomandibular syndrome/Cerebrocostomandibular syndrome", "OMIM:252605": "Mucolipidosis III gamma", "ORPHA:423479": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome", "ORPHA:424": "Familial hyperthyroidism due to mutations in TSH receptor/Hyperthyroidism, nonautoimmune", "OMIM:609152": "Familial hyperthyroidism due to mutations in TSH receptor/Hyperthyroidism, nonautoimmune", "ORPHA:424016": "Adenocarcinoma of the anal canal", "ORPHA:424019": "Squamous cell carcinoma of the anal canal", "OMIM:616230": "Epilepsy, progressive myoclonic, 8", "OMIM:615877": "Microphthalmia/coloboma and skeletal dysplasia syndrome", "ORPHA:424107": "Congenital myopathy with myasthenic-like onset", "OMIM:617072": "Muscular dystrophy, limb-girdle, type 2Y", "ORPHA:425": "Apolipoprotein A-I deficiency/HDL deficiency, familial, 1", "OMIM:604091": "Apolipoprotein A-I deficiency/HDL deficiency, familial, 1", "OMIM:615934": "STING-associated vasculopathy, infantile-onset", "ORPHA:1394": "Cerebrofaciothoracic dysplasia/Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1", "OMIM:213980": "Cerebrofaciothoracic dysplasia/Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1", "ORPHA:42642": "PFAPA syndrome", "ORPHA:42665": "Tietz syndrome/Tietz albinism-deafness syndrome", "OMIM:103500": "Tietz syndrome/Tietz albinism-deafness syndrome", "ORPHA:427": "Familial hypoaldosteronism", "CCRD:104": "重症先天性粒细胞缺乏症/Severe congenital neutropenia; SCN", "ORPHA:42775": "PHACE syndrome/PHACE association", "OMIM:606519": "PHACE syndrome/PHACE association", "ORPHA:428": "Autosomal dominant hypocalcemia/Hypocalcemia, autosomal dominant 1", "OMIM:601198": "Autosomal dominant hypocalcemia/Hypocalcemia, autosomal dominant 1", "ORPHA:429": "Hypochondroplasia/Hypochondroplasia", "OMIM:146000": "Hypochondroplasia/Hypochondroplasia", "CCRD:119": "肾上腺脑白质营养不良/Adrenoleukodystrophy; ALD/X-linked adrenoleukodystrophy/Adrenoleukodystrophy", "ORPHA:43": "肾上腺脑白质营养不良/Adrenoleukodystrophy; ALD/X-linked adrenoleukodystrophy/Adrenoleukodystrophy", "OMIM:300100": "肾上腺脑白质营养不良/Adrenoleukodystrophy; ALD/X-linked adrenoleukodystrophy/Adrenoleukodystrophy", "OMIM:300915": "Microphthalmia, syndromic 13", "ORPHA:139402": "Drug reaction with eosinophilia and systemic symptoms", "OMIM:615593": "Immunodeficiency 16", "OMIM:255125": "Myopathy with exercise intolerance, Swedish type", "OMIM:181405": "Scapuloperoneal spinal muscular atrophy", "OMIM:300695": "Scapuloperoneal myopathy, X-linked dominant", "ORPHA:139406": "Encephalopathy due to prosaposin deficiency/Combined saposin deficiency", "OMIM:611721": "Encephalopathy due to prosaposin deficiency/Combined saposin deficiency", "ORPHA:431329": "Autosomal recessive spastic paraplegia type 57/Spastic paraplegia 57, autosomal recessive", "OMIM:615658": "Autosomal recessive spastic paraplegia type 57/Spastic paraplegia 57, autosomal recessive", "ORPHA:431361": "Progressive encephalopathy with leukodystrophy due to DECR deficiency/2,4-dienoyl-CoA reductase deficiency", "OMIM:616034": "Progressive encephalopathy with leukodystrophy due to DECR deficiency/2,4-dienoyl-CoA reductase deficiency", "ORPHA:432": "Normosmic congenital hypogonadotropic hypogonadism", "ORPHA:43393": "Lambert-Eaton myasthenic syndrome", "ORPHA:434179": "Orofaciodigital syndrome type 14/Orofaciodigital syndrome XIV", "OMIM:615948": "Orofaciodigital syndrome type 14/Orofaciodigital syndrome XIV", "ORPHA:139411": "Carney triad", "OMIM:137575": "Gigantiform cementoma, familial", "ORPHA:435387": "Autosomal dominant Charcot-Marie-Tooth disease type 2Y/Charcot-Marie-Tooth disease, axonal, type 2Y", "OMIM:616687": "Autosomal dominant Charcot-Marie-Tooth disease type 2Y/Charcot-Marie-Tooth disease, axonal, type 2Y", "OMIM:616187": "Epilepsy, progressive myoclonic 7", "ORPHA:100086": "Gallbladder neuroendocrine tumor", "ORPHA:139414": "Congenital panfollicular nevus", "ORPHA:435628": "Keppen-Lubinsky syndrome/Keppen-Lubinsky syndrome", "OMIM:614098": "Keppen-Lubinsky syndrome/Keppen-Lubinsky syndrome", "ORPHA:435638": "3p25.3 microdeletion syndrome", "ORPHA:435651": "CIDEC-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 5", "OMIM:615238": "CIDEC-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 5", "ORPHA:435660": "LIPE-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 6", "OMIM:615980": "LIPE-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 6", "OMIM:614498": "Rigidity and multifocal seizure syndrome, lethal neonatal", "OMIM:212550": "Optic disc anomalies with retinal and/or macular dystrophy", "ORPHA:435934": "COG2-CDG/Congenital disorder of glycosylation, type IIq", "OMIM:617395": "COG2-CDG/Congenital disorder of glycosylation, type IIq", "ORPHA:435938": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "OMIM:616200": "Ruijs-Aalfs syndrome", "OMIM:616201": "Chronic atrial and intestinal dysrhythmia", "OMIM:616039": "Charcot-Marie-Tooth disease, recessive intermediate D", "CCRD:50": "低磷酸酯酶症/Hypophosphatasia; HPP/Hypophosphatasia", "ORPHA:436": "低磷酸酯酶症/Hypophosphatasia; HPP/Hypophosphatasia", "ORPHA:436003": "Contractures-developmental delay-Pierre Robin syndrome", "ORPHA:436141": "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "ORPHA:436144": "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "OMIM:616100": "Autoimmune lymphoproliferative syndrome, type V", "OMIM:616050": "Autoinflammation with infantile enterocolitis", "OMIM:614486": "Thrombophilia due to thrombomodulin defect", "ORPHA:436174": "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome/Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia", "OMIM:616007": "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome/Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia", "ORPHA:436182": "Microcephalic primordial dwarfism-insulin resistance syndrome", "OMIM:616117": "Cardiac conduction disease with or without dilated cardiomyopathy", "ORPHA:436245": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome/Retinal dystrophy, juvenile cataracts, and short stature syndrome", "OMIM:616108": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome/Retinal dystrophy, juvenile cataracts, and short stature syndrome", "ORPHA:436252": "Combined immunodeficiency-enteropathy spectrum/Gastrointestinal defects and immunodeficiency syndrome", "OMIM:243150": "Combined immunodeficiency-enteropathy spectrum/Gastrointestinal defects and immunodeficiency syndrome", "ORPHA:436271": "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "ORPHA:436274": "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "CCRD:51": "低血磷性佝偻病/Hypophosphatemic rickets/Hypophosphatemic rickets", "ORPHA:437": "低血磷性佝偻病/Hypophosphatemic rickets/Hypophosphatemic rickets", "OMIM:615707": "Immunodeficiency 20", "ORPHA:437572": "MYH7-related late-onset scapuloperoneal muscular dystrophy/Scapuloperoneal myopathy, myh7-related", "OMIM:181430": "MYH7-related late-onset scapuloperoneal muscular dystrophy/Scapuloperoneal myopathy, myh7-related", "OMIM:616095": "Monocarboxylate transporter 1 deficiency", "ORPHA:438114": "RARS-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 9", "OMIM:616140": "RARS-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 9", "OMIM:615155": "Steel syndrome", "ORPHA:139426": "Perioral myoclonia with absences", "ORPHA:438134": "PCNA-related progressive neurodegenerative photosensitivity syndrome/Ataxia-telangiectasia-like disorder 2", "OMIM:615919": "PCNA-related progressive neurodegenerative photosensitivity syndrome/Ataxia-telangiectasia-like disorder 2", "OMIM:615952": "Autoimmune disease, multisystem, infantile-onset, 1", "ORPHA:438178": "Fatty acyl-CoA reductase 1 deficiency/Peroxisomal fatty acyl-CoA reductase 1 disorder", "OMIM:616154": "Fatty acyl-CoA reductase 1 deficiency/Peroxisomal fatty acyl-CoA reductase 1 disorder", "OMIM:616176": "Bleeding disorder, platelet-type, 19", "ORPHA:438216": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation/Mental retardation, autosomal dominant 31", "OMIM:616158": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation/Mental retardation, autosomal dominant 31", "ORPHA:438274": "GCGR-related hyperglucagonemia", "ORPHA:439": "Isolated right ventricular hypoplasia/Right ventricular hypoplasia, isolated", "OMIM:277200": "Isolated right ventricular hypoplasia/Right ventricular hypoplasia, isolated", "ORPHA:439167": "Placental insufficiency", "OMIM:614399": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset", "ORPHA:439218": "KCNQ2-related epileptic encephalopathy/Epileptic encephalopathy, early infantile, 7", "OMIM:613720": "KCNQ2-related epileptic encephalopathy/Epileptic encephalopathy, early infantile, 7", "ORPHA:439232": "AApoAIV amyloidosis", "ORPHA:139436": "Multicentric reticulohistiocytosis", "OMIM:261740": "Glycogen storage disease of heart, lethal congenital", "OMIM:616258": "Meckel syndrome 12", "ORPHA:44": "Neonatal adrenoleukodystrophy", "ORPHA:440354": "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "OMIM:610921": "Surfactant metabolism dysfunction, pulmonary, 3", "OMIM:615486": "Interstitial lung and liver disease", "ORPHA:440437": "Familial colorectal cancer Type X", "ORPHA:139444": "Leukoencephalopathy with bilateral anterior temporal lobe cysts", "OMIM:608611": "Ribose 5-phosphate isomerase deficiency", "ORPHA:440713": "Isolated sedoheptulokinase deficiency/Sedoheptulokinase deficiency", "OMIM:617213": "Isolated sedoheptulokinase deficiency/Sedoheptulokinase deficiency", "ORPHA:440727": "Combined hamartoma of the retina and retinal pigment epithelium", "OMIM:615604": "L-ferritin deficiency, dominant and recessive", "ORPHA:441": "Pure autonomic failure", "ORPHA:442": "Congenital hypothyroidism", "ORPHA:442835": "Non-specific early-onset epileptic encephalopathy", "OMIM:176090": "Porphyria cutanea tarda, type I", "OMIM:176100": "Porphyria cutanea tarda", "OMIM:616155": "Charcot-Marie-Tooth disease, axonal, type 2S", "OMIM:614279": "46,xy sex reversal 8", "ORPHA:139450": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome/Microtia - eye coloboma - imperforation of the nasolacrimal duct", "OMIM:611863": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome/Microtia - eye coloboma - imperforation of the nasolacrimal duct", "OMIM:144755": "Hyperostosis cranialis interna", "OMIM:605013": "MICROHYDRANENCEPHALY", "ORPHA:443167": "NUT midline carcinoma", "OMIM:611809": "Bestrophinopathy, autosomal recessive", "OMIM:300752": "Protoporphyria, erythropoietic, X-linked", "OMIM:604715": "Orthostatic intolerance", "ORPHA:443811": "PGM3-CDG/Immunodeficiency 23", "OMIM:615816": "PGM3-CDG/Immunodeficiency 23", "OMIM:219730": "Ventriculomegaly with cystic kidney disease", "ORPHA:139466": "SERKAL syndrome/46,XX sex reversal with dysgenesis of kidney, adrenals, and lungs", "OMIM:611812": "SERKAL syndrome/46,XX sex reversal with dysgenesis of kidney, adrenals, and lungs", "OMIM:616367": "Mandibulofacial dysostosis with alopecia", "ORPHA:444": "Marie Unna hereditary hypotrichosis", "ORPHA:444002": "11q22.2q22.3 microdeletion syndrome", "ORPHA:444013": "Combined oxidative phosphorylation defect type 23/Combined oxidative phosphorylation deficiency 23", "OMIM:616198": "Combined oxidative phosphorylation defect type 23/Combined oxidative phosphorylation deficiency 23", "OMIM:616185": "Ovarian dysgenesis 4", "ORPHA:444051": "20q11.2 microdeletion syndrome", "ORPHA:444072": "Cerebellar-facial-dental syndrome/Cerebellofaciodental syndrome", "OMIM:616202": "Cerebellar-facial-dental syndrome/Cerebellofaciodental syndrome", "ORPHA:444077": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome/CHOPS syndrome", "OMIM:616368": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome/CHOPS syndrome", "OMIM:616414": "Autoimmune interstitial lung, joint, and kidney disease", "ORPHA:139471": "Microphthalmia with brain and digit anomalies/Microphthalmia, syndromic 6", "OMIM:607932": "Microphthalmia with brain and digit anomalies/Microphthalmia, syndromic 6", "ORPHA:444099": "Autosomal dominant spastic paraplegia type 73/Spastic paraplegia 73, autosomal dominant", "OMIM:616282": "Autosomal dominant spastic paraplegia type 73/Spastic paraplegia 73, autosomal dominant", "OMIM:616295": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads", "OMIM:616239": "Combined oxidative phosphorylation deficiency 24", "ORPHA:444463": "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome", "ORPHA:444490": "Familial chylomicronemia syndrome", "OMIM:614700": "Immunodeficiency, common variable, 8, with autoimmunity", "ORPHA:139474": "17q11.2 microduplication syndrome", "ORPHA:445038": "3-methylglutaconic aciduria type 7/3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia", "OMIM:616271": "3-methylglutaconic aciduria type 7/3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia", "ORPHA:445062": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome/Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus", "OMIM:616192": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome/Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus", "OMIM:616094": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12", "ORPHA:446": "Neonatal hemochromatosis/Hemochromatosis, neonatal", "OMIM:231100": "Neonatal hemochromatosis/Hemochromatosis, neonatal", "CCRD:88": "阵发性睡眠性血红蛋白尿症/Paroxysmal nocturnal hemoglobinuria; PNH/Paroxysmal nocturnal hemoglobinuria/Paroxysmal nocturnal hemoglobinuria", "ORPHA:447": "阵发性睡眠性血红蛋白尿症/Paroxysmal nocturnal hemoglobinuria; PNH/Paroxysmal nocturnal hemoglobinuria/Paroxysmal nocturnal hemoglobinuria", "OMIM:300818": "阵发性睡眠性血红蛋白尿症/Paroxysmal nocturnal hemoglobinuria; PNH/Paroxysmal nocturnal hemoglobinuria/Paroxysmal nocturnal hemoglobinuria", "OMIM:616433": "Immunodeficiency 40", "ORPHA:447753": "Autosomal dominant spastic paraplegia type 9A/Spastic paraplegia 9A, autosomal dominant", "OMIM:601162": "Autosomal dominant spastic paraplegia type 9A/Spastic paraplegia 9A, autosomal dominant", "ORPHA:139480": "Autosomal recessive spastic paraplegia type 39/Spastic paraplegia 39, autosomal recessive", "OMIM:612020": "Autosomal recessive spastic paraplegia type 39/Spastic paraplegia 39, autosomal recessive", "ORPHA:447757": "Autosomal dominant spastic paraplegia type 9B", "ORPHA:447760": "Autosomal recessive spastic paraplegia type 9B/Spastic paraplegia 9B, autosomal recessive", "OMIM:616586": "Autosomal recessive spastic paraplegia type 9B/Spastic paraplegia 9B, autosomal recessive", "OMIM:614741": "Mitochondrial pyruvate carrier deficiency", "ORPHA:139485": "Autosomal recessive ataxia due to ubiquinone deficiency/Coenzyme Q10 deficiency, primary, 4", "OMIM:612016": "Autosomal recessive ataxia due to ubiquinone deficiency/Coenzyme Q10 deficiency, primary, 4", "ORPHA:447877": "Polymerase proofreading-related adenomatous polyposis", "ORPHA:447896": "Tremor-ataxia-central hypomyelination syndrome", "OMIM:616430": "Combined oxidative phosphorylation deficiency 25", "OMIM:618373": "Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma", "OMIM:616491": "Charcot-Marie-Tooth disease, axonal, type 2V", "OMIM:616549": "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism", "OMIM:616852": "Myopathy, scapulohumeroperoneal", "ORPHA:139491": "Hemochromatosis type 4/Hemochromatosis, type 4", "OMIM:606069": "Hemochromatosis type 4/Hemochromatosis, type 4", "ORPHA:447997": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome/Spastic tetraplegia, thin corpus callosum, and progressive microcephaly", "OMIM:616657": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome/Spastic tetraplegia, thin corpus callosum, and progressive microcephaly", "CCRD:36": "血友病/Hemophilia", "OMIM:616457": "Developmental and epileptic encephalopathy 50", "OMIM:616291": "Lichtenstein-Knorr syndrome", "ORPHA:139507": "African iron overload", "ORPHA:44890": "Gastrointestinal stromal tumor/Gastrointestinal stromal tumor", "OMIM:606764": "Gastrointestinal stromal tumor/Gastrointestinal stromal tumor", "ORPHA:45": "Adenosine monophosphate deaminase deficiency", "OMIM:149700": "Lacrimal duct defect", "OMIM:611228": "Charcot-Marie-Tooth disease, type 4J", "ORPHA:452": "X-linked lissencephaly with abnormal genitalia/Lissencephaly, X-linked, 2", "OMIM:300215": "X-linked lissencephaly with abnormal genitalia/Lissencephaly, X-linked, 2", "ORPHA:453504": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation/Au-Kline syndrome", "OMIM:616580": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation/Au-Kline syndrome", "ORPHA:453521": "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency/Spinocerebellar ataxia, autosomal recessive 17", "OMIM:616127": "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency/Spinocerebellar ataxia, autosomal recessive 17", "ORPHA:453533": "Polyendocrine-polyneuropathy syndrome/Polyendocrine-polyneuropathy syndrome", "OMIM:616113": "Polyendocrine-polyneuropathy syndrome/Polyendocrine-polyneuropathy syndrome", "OMIM:135700": "Fibrosis of extraocular muscles, congenital, 1", "ORPHA:454": "Acquired ichthyosis", "ORPHA:45448": "Miyoshi myopathy/Miyoshi muscular dystrophy 1", "OMIM:254130": "Miyoshi myopathy/Miyoshi muscular dystrophy 1", "OMIM:182960": "Neuronopathy, distal hereditary motor, type I", "ORPHA:45453": "Incessant infant ventricular tachycardia", "OMIM:181030": "Salivary gland adenoma, pleomorphic", "ORPHA:454840": "NTHL1-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 3", "OMIM:616415": "NTHL1-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 3", "ORPHA:454887": "Corticobasal syndrome", "ORPHA:455": "Superficial epidermolytic ichthyosis/Ichthyosis, Bullous type", "OMIM:146800": "Superficial epidermolytic ichthyosis/Ichthyosis, Bullous type", "ORPHA:456312": "Infantile multisystem neurologic-endocrine-pancreatic disease/Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset", "OMIM:616263": "Infantile multisystem neurologic-endocrine-pancreatic disease/Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset", "OMIM:614116": "Neuropathy, hereditary sensory, type IE", "ORPHA:456328": "X-linked myotubular myopathy-abnormal genitalia syndrome/Myotubular myopathy with abnormal genital development", "OMIM:300219": "X-linked myotubular myopathy-abnormal genitalia syndrome/Myotubular myopathy with abnormal genital development", "ORPHA:139536": "Distal hereditary motor neuropathy type 5", "OMIM:616199": "Polyglucosan body myopathy 2", "ORPHA:457": "Harlequin ichthyosis/Ichthyosis, congenital, autosomal recessive 4B", "OMIM:242500": "Harlequin ichthyosis/Ichthyosis, congenital, autosomal recessive 4B", "ORPHA:457050": "Autosomal dominant mitochondrial myopathy with exercise intolerance/Myopathy, isolated mitochondrial, autosomal dominant", "OMIM:616209": "Autosomal dominant mitochondrial myopathy with exercise intolerance/Myopathy, isolated mitochondrial, autosomal dominant", "ORPHA:457059": "Pseudohypoparathyroidism with Albright hereditary osteodystrophy", "OMIM:212050": "Candidiasis, familial chronic mucocutaneous, autosomal recessive", "OMIM:607088": "Spinal muscular atrophy, distal, autosomal recessive, 3", "OMIM:616276": "Coenzyme Q10 deficiency, primary, 7", "ORPHA:457193": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome/Arboleda-Tham syndrome", "OMIM:616268": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome/Arboleda-Tham syndrome", "ORPHA:457212": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome/Intellectual developmental disorder, autosomal recessive 48", "OMIM:616269": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome/Intellectual developmental disorder, autosomal recessive 48", "OMIM:617872": "Combined oxidative phosphorylation deficiency 34", "ORPHA:457240": "X-linked intellectual disability-short stature-overweight syndrome/Mental retardation, X-linked 12/35", "OMIM:300957": "X-linked intellectual disability-short stature-overweight syndrome/Mental retardation, X-linked 12/35", "ORPHA:457260": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "OMIM:616540": "Epilepsy, progressive myoclonic, 9", "OMIM:605726": "Spinal muscular atrophy, distal, autosomal recessive, 2", "ORPHA:457279": "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome/Mental retardation, autosomal dominant 35", "OMIM:616355": "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome/Mental retardation, autosomal dominant 35", "ORPHA:457284": "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome/Mental retardation, autosomal dominant 36", "OMIM:616362": "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome/Mental retardation, autosomal dominant 36", "ORPHA:457351": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome/Epilepsy, hearing loss, and mental retardation syndrome", "OMIM:616577": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome/Epilepsy, hearing loss, and mental retardation syndrome", "OMIM:616647": "Epileptic encephalopathy, early infantile, 35", "OMIM:616897": "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type", "ORPHA:457395": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome/Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type", "OMIM:616723": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome/Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type", "OMIM:616370": "Multiple mitochondrial dysfunctions syndrome 4", "ORPHA:457485": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome/Smith-Kingsmore syndrome", "OMIM:616638": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome/Smith-Kingsmore syndrome", "OMIM:300489": "Spinal muscular atrophy, distal, X-linked 3", "OMIM:122455": "Coronary artery dissection, spontaneous", "ORPHA:458798": "Spinocerebellar ataxia type 41/Spinocerebellar ataxia 41", "OMIM:616410": "Spinocerebellar ataxia type 41/Spinocerebellar ataxia 41", "ORPHA:458803": "Spinocerebellar ataxia type 42/Spinocerebellar ataxia 42", "OMIM:616795": "Spinocerebellar ataxia type 42/Spinocerebellar ataxia 42", "OMIM:608088": "Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux", "ORPHA:459033": "Ataxia-oculomotor apraxia type 4/Ataxia-oculomotor apraxia 4", "OMIM:616267": "Ataxia-oculomotor apraxia type 4/Ataxia-oculomotor apraxia 4", "OMIM:616583": "Spondyloepiphyseal dysplasia, Stanescu type", "ORPHA:459056": "Autosomal recessive spastic paraplegia type 75/Spastic paraplegia 75, autosomal recessive", "OMIM:616680": "Autosomal recessive spastic paraplegia type 75/Spastic paraplegia 75, autosomal recessive", "ORPHA:459061": "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome/Developmental delay with short stature, dysmorphic features, and sparse hair", "OMIM:616901": "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome/Developmental delay with short stature, dysmorphic features, and sparse hair", "OMIM:120790": "Complement component 4, partial deficiency of", "ORPHA:139578": "Mutilating hereditary sensory neuropathy with spastic paraplegia/Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive", "OMIM:256840": "Mutilating hereditary sensory neuropathy with spastic paraplegia/Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive", "ORPHA:46": "Adenylosuccinate lyase deficiency/Adenylosuccinase deficiency", "OMIM:103050": "Adenylosuccinate lyase deficiency/Adenylosuccinase deficiency", "ORPHA:46059": "Lathosterolosis/Lathosterolosis", "OMIM:607330": "Lathosterolosis/Lathosterolosis", "ORPHA:461": "Recessive X-linked ichthyosis/Ichthyosis, X-linked", "OMIM:308100": "Recessive X-linked ichthyosis/Ichthyosis, X-linked", "ORPHA:46348": "Paroxysmal extreme pain disorder/Paroxysmal extreme pain disorder", "OMIM:167400": "Paroxysmal extreme pain disorder/Paroxysmal extreme pain disorder", "ORPHA:464": "Incontinentia pigmenti/Incontinentia pigmenti", "OMIM:308300": "Incontinentia pigmenti/Incontinentia pigmenti", "ORPHA:464282": "Spastic paraplegia-severe developmental delay-epilepsy syndrome/Spastic paraplegia and psychomotor retardation with or without seizures", "OMIM:616756": "Spastic paraplegia-severe developmental delay-epilepsy syndrome/Spastic paraplegia and psychomotor retardation with or without seizures", "ORPHA:464288": "Short stature-brachydactyly-obesity-global developmental delay syndrome/Short stature, brachydactyly, intellectual developmental disability, and seizures", "OMIM:617157": "Short stature-brachydactyly-obesity-global developmental delay syndrome/Short stature, brachydactyly, intellectual developmental disability, and seizures", "ORPHA:464306": "DYRK1A-related intellectual disability syndrome/Mental retardation, autosomal dominant 7", "OMIM:614104": "DYRK1A-related intellectual disability syndrome/Mental retardation, autosomal dominant 7", "OMIM:300614": "Deafness, X-linked 5", "ORPHA:464318": "Verrucous hemangioma", "ORPHA:464329": "Kaposiform lymphangiomatosis", "OMIM:616452": "B-cell expansion with NFKB and T-cell anergy", "OMIM:617022": "Lethal congenital contracture syndrome 10", "ORPHA:464440": "Primary dystonia, DYT27 type/Dystonia 27", "OMIM:616411": "Primary dystonia, DYT27 type/Dystonia 27", "OMIM:614576": "Congenital disorder of glycosylation, type IIl", "ORPHA:464453": "Acquired methemoglobinemia", "OMIM:616483": "Infantile liver failure syndrome 2", "ORPHA:464738": "Basel-Vanagaite-Smirin-Yosef syndrome/Basel-Vanagaite-Smirin-Yosef syndrome", "OMIM:616449": "Basel-Vanagaite-Smirin-Yosef syndrome/Basel-Vanagaite-Smirin-Yosef syndrome", "OMIM:611543": "Cavitary optic disc anomalies", "ORPHA:46486": "Mucous membrane pemphigoid", "ORPHA:1397": "Hydrocephaly-cerebellar agenesis syndrome", "ORPHA:46487": "Epidermolysis bullosa acquisita", "ORPHA:46488": "Linear IgA dermatosis", "ORPHA:465": "Congenital plasminogen activator inhibitor type 1 deficiency/Plasminogen activator inhibitor-1 deficiency", "OMIM:613329": "Congenital plasminogen activator inhibitor type 1 deficiency/Plasminogen activator inhibitor-1 deficiency", "ORPHA:46532": "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "ORPHA:465508": "Symptomatic form of hemochromatosis type 1", "OMIM:613630": "Fetal encasement syndrome", "OMIM:600072": "Fatal familial insomnia", "ORPHA:1398": "Isolated cerebellar agenesis", "ORPHA:46627": "Char syndrome/Char syndrome", "OMIM:169100": "Char syndrome/Char syndrome", "ORPHA:466688": "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome/Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia", "OMIM:616819": "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome/Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia", "OMIM:616829": "Congenital disorder of glycosylation, type IIP", "OMIM:617111": "Macular dystrophy, patterned, 3", "ORPHA:1399": "Richards-Rundle syndrome", "ORPHA:466722": "Autosomal recessive spastic paraplegia type 77/Spastic paraplegia 77, autosomal recessive", "OMIM:617046": "Autosomal recessive spastic paraplegia type 77/Spastic paraplegia 77, autosomal recessive", "ORPHA:466768": "Autosomal dominant Charcot-Marie-Tooth disease type 2Z/Charcot-Marie-Tooth disease, axonal, type 2Z", "OMIM:616688": "Autosomal dominant Charcot-Marie-Tooth disease type 2Z/Charcot-Marie-Tooth disease, axonal, type 2Z", "OMIM:616668": "Charcot-Marie-Tooth disease, axonal, type 2X", "OMIM:616794": "Combined oxidative phosphorylation deficiency 28", "ORPHA:466791": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome/Mental retardation, X-linked, syndromic 34", "OMIM:300967": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome/Mental retardation, X-linked, syndromic 34", "ORPHA:466794": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome/Spinocerebellar ataxia, autosomal recessive 21", "OMIM:616719": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome/Spinocerebellar ataxia, autosomal recessive 21", "OMIM:616827": "Muscular dystrophy, limb-girdle, type 2W", "OMIM:616913": "Bleeding disorder, platelet-type, 20", "ORPHA:14": "Abetalipoproteinemia/ABETALIPOPROTEINEMIA", "OMIM:200100": "Abetalipoproteinemia/ABETALIPOPROTEINEMIA", "ORPHA:466926": "Seizures-scoliosis-macrocephaly syndrome/Seizures, scoliosis, and macrocephaly/microcephaly syndrome", "OMIM:616682": "Seizures-scoliosis-macrocephaly syndrome/Seizures, scoliosis, and macrocephaly/microcephaly syndrome", "ORPHA:466934": "VPS11-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 12", "OMIM:616683": "VPS11-related autosomal recessive hypomyelinating leukodystrophy/Leukodystrophy, hypomyelinating, 12", "ORPHA:466950": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation/Desanto-Shinawi syndrome", "OMIM:616708": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation/Desanto-Shinawi syndrome", "OMIM:616816": "Hypotonia, infantile, with psychomotor retardation", "ORPHA:46724": "Cerebral arteriovenous malformation/Arteriovenous malformation of the brain, somatic", "OMIM:108010": "Cerebral arteriovenous malformation/Arteriovenous malformation of the brain, somatic", "ORPHA:468620": "Intellectual disability-epilepsy-extrapyramidal syndrome/Dyskinesia, seizures, and intellectual developmental disorder", "OMIM:617171": "Intellectual disability-epilepsy-extrapyramidal syndrome/Dyskinesia, seizures, and intellectual developmental disorder", "ORPHA:140": "Campomelic dysplasia/Campomelic dysplasia", "OMIM:114290": "Campomelic dysplasia/Campomelic dysplasia", "ORPHA:468631": "Microcephalic cortical malformations-short stature due to RTTN deficiency/Microcephaly, short stature, and polymicrogyria with or without seizures", "OMIM:614833": "Microcephalic cortical malformations-short stature due to RTTN deficiency/Microcephaly, short stature, and polymicrogyria with or without seizures", "ORPHA:468661": "Autosomal recessive spastic paraplegia type 74/Spastic paraplegia 74, autosomal recessive", "OMIM:616451": "Autosomal recessive spastic paraplegia type 74/Spastic paraplegia 74, autosomal recessive", "OMIM:106190": "Anhidrosis, isolated, with normal sweat glands", "OMIM:602499": "Macrophthalmia, colobomatous, with microcornea", "ORPHA:468678": "White-Sutton syndrome/White-Sutton syndrome", "OMIM:616364": "White-Sutton syndrome/White-Sutton syndrome", "OMIM:616828": "Congenital disorder of glycosylation, type IIO", "ORPHA:468699": "SLC39A8-CDG/Congenital disorder of glycosylation, type IIN", "OMIM:616721": "SLC39A8-CDG/Congenital disorder of glycosylation, type IIN", "OMIM:616716": "Rhizomelic chondrodysplasia punctata, type 5", "ORPHA:1401": "CHAND syndrome/CHANDS", "OMIM:214350": "CHAND syndrome/CHANDS", "CCRD:40": "遗传性果糖不耐受症/Hereditary fructose intoleranc; HFI/Hereditary fructose intolerance/Fructose intolerance, hereditary", "ORPHA:469": "遗传性果糖不耐受症/Hereditary fructose intoleranc; HFI/Hereditary fructose intolerance/Fructose intolerance, hereditary", "OMIM:229600": "遗传性果糖不耐受症/Hereditary fructose intoleranc; HFI/Hereditary fructose intolerance/Fructose intolerance, hereditary", "CCRD:120": "X-连锁无丙种球蛋白血症/X-lingked agammaglobulinemia; XLA/X-linked agammaglobulinemia/Agammaglobulinemia, X-linked", "ORPHA:47": "X-连锁无丙种球蛋白血症/X-lingked agammaglobulinemia; XLA/X-linked agammaglobulinemia/Agammaglobulinemia, X-linked", "OMIM:300755": "X-连锁无丙种球蛋白血症/X-lingked agammaglobulinemia; XLA/X-linked agammaglobulinemia/Agammaglobulinemia, X-linked", "CCRD:65": "赖氨酸尿蛋白不耐受症/Lysinuric protein intolerance; LPI/Lysinuric protein intolerance/Lysinuric protein intolerance", "ORPHA:470": "赖氨酸尿蛋白不耐受症/Lysinuric protein intolerance; LPI/Lysinuric protein intolerance/Lysinuric protein intolerance", "OMIM:222700": "赖氨酸尿蛋白不耐受症/Lysinuric protein intolerance; LPI/Lysinuric protein intolerance/Lysinuric protein intolerance", "OMIM:605074": "Renal cell carcinoma, papillary, 1, familial and somatic", "ORPHA:47045": "Familial cold urticaria", "ORPHA:47159": "Proximal renal tubular acidosis/Renal tubular acidosis, proximal", "OMIM:179830": "Proximal renal tubular acidosis/Renal tubular acidosis, proximal", "CCRD:7": "窒息性胸腔失养症（热纳综合征）/Asphyxiating thoracic dystrophy; Jeune syndrome; JS/Jeune syndrome", "ORPHA:474": "窒息性胸腔失养症（热纳综合征）/Asphyxiating thoracic dystrophy; Jeune syndrome; JS/Jeune syndrome", "ORPHA:475": "Joubert syndrome/Joubert syndrome 1", "OMIM:213300": "Joubert syndrome/Joubert syndrome 1", "OMIM:616812": "Muscular dystrophy, limb-girdle, autosomal recessive 25", "OMIM:616744": "Autoinflammatory syndrome, familial, Behcet-like", "OMIM:616740": "Immunodeficiency 46", "ORPHA:140286": "Secondary hypoparathyroidism due to impaired parathormon secretion", "ORPHA:47612": "Felty syndrome/Felty syndrome", "OMIM:134750": "Felty syndrome/Felty syndrome", "ORPHA:476126": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome/Mental retardation, autosomal dominant 44", "OMIM:617061": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome/Mental retardation, autosomal dominant 44", "OMIM:618279": "Charcot-Marie-Tooth disease, demyelinating, type 1G", "ORPHA:477": "KID syndrome/Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant", "OMIM:148210": "KID syndrome/Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant", "OMIM:615767": "Immunodeficiency, common variable, 11", "OMIM:606893": "Vascular malformation, primary intraosseous", "ORPHA:477673": "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and spastic paraplegia", "OMIM:616281": "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and spastic paraplegia", "OMIM:616539": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay", "ORPHA:477774": "Combined oxidative phosphorylation defect type 27/Combined oxidative phosphorylation deficiency 27", "OMIM:616672": "Combined oxidative phosphorylation defect type 27/Combined oxidative phosphorylation deficiency 27", "OMIM:618372": "Gastrointestinal ulceration, recurrent, with dysfunctional platelets", "OMIM:616632": "Seizures, cortical blindness, and microcephaly syndrome", "ORPHA:477817": "PMP22-RAI1 contiguous gene duplication syndrome/Yuan-Harel-Lupski syndrome", "OMIM:616652": "PMP22-RAI1 contiguous gene duplication syndrome/Yuan-Harel-Lupski syndrome", "OMIM:616592": "Kosaki overgrowth syndrome", "OMIM:616622": "Immunodeficiency 42", "ORPHA:477993": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome/Cleft palate, psychomotor retardation, and distinctive facial features", "OMIM:616728": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome/Cleft palate, psychomotor retardation, and distinctive facial features", "CCRD:53.1": "卡尔曼综合征/Kallmann syndrome; KS/Kallmann syndrome", "ORPHA:478": "卡尔曼综合征/Kallmann syndrome; KS/Kallmann syndrome", "ORPHA:478029": "Combined oxidative phosphorylation defect type 29", "OMIM:616974": "Combined oxidative phosphorylation deficiency 30", "OMIM:617228": "Combined oxidative phosphorylation deficiency 31", "OMIM:616488": "Neuropathy, hereditary sensory and autonomic, type VIII", "ORPHA:48": "Congenital bilateral absence of vas deferens", "CCRD:72.6": "Kearn–Sayre 综合征（KSS）/Kearn–Sayre syndrome/Kearns-Sayre syndrome/Kearns-Sayre syndrome", "ORPHA:480": "Kearn–Sayre 综合征（KSS）/Kearn–Sayre syndrome/Kearns-Sayre syndrome/Kearns-Sayre syndrome", "OMIM:530000": "Kearn–Sayre 综合征（KSS）/Kearn–Sayre syndrome/Kearns-Sayre syndrome/Kearns-Sayre syndrome", "OMIM:617049": "Cholestasis, progressive familial intrahepatic, 5", "OMIM:615878": "Cholestasis, progressive familial intrahepatic 4", "ORPHA:480536": "MSH3-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 4", "OMIM:617100": "MSH3-related attenuated familial adenomatous polyposis/Familial adenomatous polyposis 4", "OMIM:617232": "Muscular dystrophy, limb-girdle, type 2Z", "OMIM:616937": "Thrombocytopenia 6", "ORPHA:480864": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome/Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "OMIM:616878": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome/Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "ORPHA:480880": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability/Mental retardation, X-linked 99, syndromic, female-restricted", "OMIM:300968": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability/Mental retardation, X-linked 99, syndromic, female-restricted", "ORPHA:480898": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome/Cerebellar atrophy, visual impairment, and psychomotor retardation", "OMIM:616875": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome/Cerebellar atrophy, visual impairment, and psychomotor retardation", "ORPHA:480907": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome/Mental retardation, X-linked, syndromic 33", "OMIM:300966": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome/Mental retardation, X-linked, syndromic 33", "CCRD:109": "脊髓延髓肌萎缩症/Spinal bulbar muscular atrophy; SBMA; Kennedy disease; KD/Kennedy disease/Spinal and bulbar muscular atrophy, X-linked 1", "ORPHA:481": "脊髓延髓肌萎缩症/Spinal bulbar muscular atrophy; SBMA; Kennedy disease; KD/Kennedy disease/Spinal and bulbar muscular atrophy, X-linked 1", "OMIM:313200": "脊髓延髓肌萎缩症/Spinal bulbar muscular atrophy; SBMA; Kennedy disease; KD/Kennedy disease/Spinal and bulbar muscular atrophy, X-linked 1", "ORPHA:48104": "Pyoderma gangrenosum", "ORPHA:481152": "PYCR2-related microcephaly-progressive leukoencephalopathy/Leukodystrophy, hypomyelinating, 10", "OMIM:616420": "PYCR2-related microcephaly-progressive leukoencephalopathy/Leukodystrophy, hypomyelinating, 10", "OMIM:617397": "Pseudo-Torch syndrome 2", "ORPHA:482": "Kimura disease", "ORPHA:482601": "Adenylosuccinate synthetase-like 1-related distal myopathy/Myopathy, distal, 5", "OMIM:617030": "Adenylosuccinate synthetase-like 1-related distal myopathy/Myopathy, distal, 5", "OMIM:228960": "Flaujeac factor deficiency", "ORPHA:48372": "Nodular regenerative hyperplasia of the liver", "ORPHA:48377": "Subcorneal pustular dermatosis", "ORPHA:48431": "Congenital cataracts-facial dysmorphism-neuropathy syndrome/Congenital cataracts, facial dysmorphism, and neuropathy", "OMIM:604168": "Congenital cataracts-facial dysmorphism-neuropathy syndrome/Congenital cataracts, facial dysmorphism, and neuropathy", "ORPHA:485": "Kniest dysplasia/Kniest dysplasia", "OMIM:156550": "Kniest dysplasia/Kniest dysplasia", "ORPHA:485350": "CLCN4-related X-linked intellectual disability syndrome", "ORPHA:485421": "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 2", "OMIM:617086": "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect/Encephalopathy due to defective mitochondrial and peroxisomal fission 2", "CCRD:57": "先天性胆汁酸合成障碍/Inborn errors of bile acid synthesis; IEBAS", "ORPHA:486": "Autosomal dominant severe congenital neutropenia/Neutropenia, severe congenital, 1, autosomal dominant", "OMIM:202700": "Autosomal dominant severe congenital neutropenia/Neutropenia, severe congenital, 1, autosomal dominant", "ORPHA:48652": "Monosomy 22q13.3/Phelan-Mcdermid syndrome", "OMIM:606232": "Monosomy 22q13.3/Phelan-Mcdermid syndrome", "ORPHA:486815": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome/Muscular dystrophy, congenital, Davignon-Chauveau type", "OMIM:617066": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome/Muscular dystrophy, congenital, Davignon-Chauveau type", "ORPHA:48686": "Primary effusion lymphoma", "OMIM:608236": "Slowed nerve conduction velocity, autosomal dominant", "OMIM:245200": "Krabbe disease", "ORPHA:487796": "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome/Takenouchi-Kosaki syndrome", "OMIM:616737": "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome/Takenouchi-Kosaki syndrome", "ORPHA:487825": "Pierpont syndrome/Pierpont syndrome", "OMIM:602342": "Pierpont syndrome/Pierpont syndrome", "OMIM:616834": "Microcephaly, congenital cataract, and psoriasiform dermatitis", "ORPHA:48818": "Aceruloplasminemia/ACERULOPLASMINEMIA", "OMIM:604290": "Aceruloplasminemia/ACERULOPLASMINEMIA", "ORPHA:1406": "Charlie M syndrome", "OMIM:616722": "Retinal dystrophy and iris coloboma with or without congenital cataract", "ORPHA:488232": "Split-foot malformation-mesoaxial polydactyly syndrome/Split-Foot malformation with mesoaxial polydactyly", "OMIM:616890": "Split-foot malformation-mesoaxial polydactyly syndrome/Split-Foot malformation with mesoaxial polydactyly", "OMIM:607278": "Osteofibrous dysplasia, susceptibility to", "OMIM:616604": "Chromosome 14q32 duplication syndrome, 700-kb", "ORPHA:488333": "Autosomal dominant Charcot-Marie-Tooth disease type 2W/Charcot-Marie-Tooth disease, axonal, type 2W", "OMIM:616625": "Autosomal dominant Charcot-Marie-Tooth disease type 2W/Charcot-Marie-Tooth disease, axonal, type 2W", "ORPHA:488434": "Camptodactyly syndrome, Guadalajara type 3/Camptodactyly syndrome, Guadalajara, type III", "OMIM:611929": "Camptodactyly syndrome, Guadalajara type 3/Camptodactyly syndrome, Guadalajara, type III", "ORPHA:488437": "SIX2-related frontonasal dysplasia", "ORPHA:488594": "Autosomal recessive spastic paraplegia type 76/Spastic paraplegia 76, autosomal recessive", "OMIM:616907": "Autosomal recessive spastic paraplegia type 76/Spastic paraplegia 76, autosomal recessive", "ORPHA:488613": "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "ORPHA:488618": "Transketolase deficiency/Short stature, developmental delay, and congenital heart defects", "OMIM:617044": "Transketolase deficiency/Short stature, developmental delay, and congenital heart defects", "ORPHA:488627": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and gray sclerae", "OMIM:617051": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome/Neurodevelopmental disorder with microcephaly and gray sclerae", "ORPHA:488632": "TBCK-related intellectual disability syndrome/Hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "OMIM:616900": "TBCK-related intellectual disability syndrome/Hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "ORPHA:488642": "TELO2-related intellectual disability-neurodevelopmental disorder/You-Hoover-Fong syndrome", "OMIM:616954": "TELO2-related intellectual disability-neurodevelopmental disorder/You-Hoover-Fong syndrome", "OMIM:616871": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to", "ORPHA:488650": "Distal myopathy, Tateyama type/Myopathy, distal, Tateyama type", "OMIM:614321": "Distal myopathy, Tateyama type/Myopathy, distal, Tateyama type", "ORPHA:48918": "Focal myositis", "OMIM:234030": "Hair defect with photosensitivity and mental retardation", "ORPHA:49": "Penile agenesis", "ORPHA:49041": "IgG4-related retroperitoneal fibrosis", "ORPHA:492": "Proliferating trichilemmal cyst", "ORPHA:493": "Familial keratoacanthoma", "OMIM:125630": "Dermodistortive urticaria", "ORPHA:49382": "Achromatopsia/Achromatopsia 2", "OMIM:216900": "Achromatopsia/Achromatopsia 2", "ORPHA:494": "Keratoderma hereditarium mutilans/Vohwinkel syndrome", "OMIM:124500": "Keratoderma hereditarium mutilans/Vohwinkel syndrome", "OMIM:617068": "Portal hypertension, noncirrhotic", "OMIM:617053": "Mirage syndrome", "OMIM:617763": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies", "OMIM:124900": "Deafness, autosomal dominant 1", "ORPHA:140896": "Severe acute respiratory syndrome", "ORPHA:494526": "Infantile-onset generalized dyskinesia with orofacial involvement/Dyskinesia, limb and orofacial, infantile-onset", "OMIM:616921": "Infantile-onset generalized dyskinesia with orofacial involvement/Dyskinesia, limb and orofacial, infantile-onset", "ORPHA:494541": "Childhood-onset benign chorea with striatal involvement/Striatal degeneration, autosomal dominant 2", "OMIM:616922": "Childhood-onset benign chorea with striatal involvement/Striatal degeneration, autosomal dominant 2", "ORPHA:495": "Transgrediens et progrediens palmoplantar keratoderma", "ORPHA:49566": "Acquired purpura fulminans", "ORPHA:140905": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency/Hepatic lipase deficiency", "OMIM:614025": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency/Hepatic lipase deficiency", "OMIM:616881": "Leukodystrophy, hypomyelinating, 13", "ORPHA:496641": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome/Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "OMIM:617193": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome/Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "OMIM:617114": "Myopathy, myofibrillar, 7", "ORPHA:496689": "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "OMIM:616854": "Even-Plus syndrome", "ORPHA:140908": "Brachydactyly type B2/Brachydactyly, type B2", "OMIM:611377": "Brachydactyly type B2/Brachydactyly, type B2", "ORPHA:496756": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome/Encephalopathy, progressive, with amyotrophy and optic atrophy", "OMIM:617207": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome/Encephalopathy, progressive, with amyotrophy and optic atrophy", "ORPHA:496790": "Ocular anomalies-axonal neuropathy-developmental delay syndrome/Harel-Yoon syndrome", "OMIM:617183": "Ocular anomalies-axonal neuropathy-developmental delay syndrome/Harel-Yoon syndrome", "ORPHA:497764": "Spinocerebellar ataxia type 43", "OMIM:617054": "Striatonigral degeneration, childhood-onset", "OMIM:184460": "Stapes ankylosis with broad thumb and toes", "ORPHA:49804": "Lichen amyloidosis", "ORPHA:49827": "Thiamine-responsive megaloblastic anemia syndrome/Thiamine-Responsive megaloblastic anemia syndrome", "OMIM:249270": "Thiamine-responsive megaloblastic anemia syndrome/Thiamine-Responsive megaloblastic anemia syndrome", "OMIM:608807": "Muscular dystrophy, limb-girdle, autosomal recessive 10", "OMIM:614091": "Short-Rib thoracic dysplasia 7 with or without polydactyly", "OMIM:272150": "Sugarman brachydactyly", "ORPHA:499": "Kerion celsi", "ORPHA:100093": "Carcinoid syndrome", "ORPHA:140933": "Linear atrophoderma of Moulin", "CCRD:63": "长链 3 羟酰基辅酶 A 脱氢酶缺乏症/Long chain 3-hydroxyacyl-CoAdehydrogenase deficiency; LCHADD/Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency/Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency", "ORPHA:5": "长链 3 羟酰基辅酶 A 脱氢酶缺乏症/Long chain 3-hydroxyacyl-CoAdehydrogenase deficiency; LCHADD/Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency/Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency", "OMIM:609016": "长链 3 羟酰基辅酶 A 脱氢酶缺乏症/Long chain 3-hydroxyacyl-CoAdehydrogenase deficiency; LCHADD/Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency/Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency", "ORPHA:50": "Aicardi syndrome/Aicardi syndrome", "OMIM:304050": "Aicardi syndrome/Aicardi syndrome", "ORPHA:500": "Noonan syndrome with multiple lentigines/Leopard syndrome 1", "OMIM:151100": "Noonan syndrome with multiple lentigines/Leopard syndrome 1", "ORPHA:140936": "Lelis syndrome", "ORPHA:500055": "16p13.2 microdeletion syndrome/Chromosome 16p13.2 deletion syndrome", "OMIM:616863": "16p13.2 microdeletion syndrome/Chromosome 16p13.2 deletion syndrome", "OMIM:617099": "Autoinflammation, panniculitis, and dermatosis syndrome", "ORPHA:500095": "Tall stature-intellectual disability-renal anomalies syndrome/Thauvin-Robinet-Faivre syndrome", "OMIM:617107": "Tall stature-intellectual disability-renal anomalies syndrome/Thauvin-Robinet-Faivre syndrome", "OMIM:236500": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly", "ORPHA:500144": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome/Encephalopathy, progressive, early-onset, with brain atrophy and spasticity", "OMIM:617669": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome/Encephalopathy, progressive, early-onset, with brain atrophy and spasticity", "ORPHA:500150": "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome/Zttk syndrome", "OMIM:617140": "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome/Zttk syndrome", "ORPHA:500159": "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom/Intellectual developmental disorder, autosomal dominant 48", "OMIM:617751": "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom/Intellectual developmental disorder, autosomal dominant 48", "ORPHA:500180": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder/Neurodegeneration, childhood-onset, with brain atrophy", "OMIM:617672": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder/Neurodegeneration, childhood-onset, with brain atrophy", "ORPHA:140941": "Short stature due to primary acid-labile subunit deficiency/Acid-labile subunit, deficiency of", "OMIM:615961": "Short stature due to primary acid-labile subunit deficiency/Acid-labile subunit, deficiency of", "OMIM:301018": "Deafness, X-linked 7", "ORPHA:500533": "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome/Polyhydramnios, megalencephaly, and symptomatic epilepsy", "OMIM:611087": "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome/Polyhydramnios, megalencephaly, and symptomatic epilepsy", "ORPHA:500545": "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract/Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "OMIM:617393": "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract/Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "ORPHA:501": "Lafora disease/Myoclonic epilepsy of Lafora", "OMIM:254780": "Lafora disease/Myoclonic epilepsy of Lafora", "ORPHA:502": "Trichorhinophalangeal syndrome type 2/Trichorhinophalangeal syndrome, type II", "OMIM:150230": "Trichorhinophalangeal syndrome type 2/Trichorhinophalangeal syndrome, type II", "OMIM:612918": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "ORPHA:502423": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome/Myopathy, mitochondrial, and ataxia", "OMIM:617675": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome/Myopathy, mitochondrial, and ataxia", "ORPHA:502434": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome/Mental retardation, autosomal dominant 47", "OMIM:617635": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome/Mental retardation, autosomal dominant 47", "OMIM:617762": "Leukodystrophy, progressive, early childhood-onset", "ORPHA:50251": "Pleural mesothelioma/Mesothelioma, malignant", "OMIM:156240": "Pleural mesothelioma/Mesothelioma, malignant", "ORPHA:503": "Larsen syndrome/Larsen syndrome", "OMIM:150250": "Larsen syndrome/Larsen syndrome", "ORPHA:504476": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome", "OMIM:617514": "Immunodeficiency 52", "OMIM:300988": "Immunodeficiency 50", "ORPHA:505": "Graham Little-Piccardi-Lassueur syndrome", "ORPHA:505216": "3-methylglutaconic aciduria type 9/3-methylglutaconic aciduria, type IX", "OMIM:617698": "3-methylglutaconic aciduria type 9/3-methylglutaconic aciduria, type IX", "OMIM:617827": "Immunodeficiency 55", "ORPHA:140952": "Syndactyly-telecanthus-anogenital and renal malformations syndrome/STAR syndrome", "OMIM:300707": "Syndactyly-telecanthus-anogenital and renal malformations syndrome/STAR syndrome", "ORPHA:505237": "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome/Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "OMIM:617452": "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome/Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "OMIM:617595": "Birk-Landau-Perez syndrome", "ORPHA:505248": "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders/Mucopolysaccharidosis-Plus syndrome", "OMIM:617303": "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders/Mucopolysaccharidosis-Plus syndrome", "ORPHA:505652": "CDKL5-deficiency disorder/Developmental and epileptic encephalopathy 2", "OMIM:300672": "CDKL5-deficiency disorder/Developmental and epileptic encephalopathy 2", "ORPHA:506": "Leigh syndrome/Leigh syndrome", "OMIM:256000": "Leigh syndrome/Leigh syndrome", "OMIM:243605": "Stromme syndrome", "OMIM:617575": "Nephrotic syndrome, type 14", "ORPHA:506353": "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction", "ORPHA:506358": "Gabriele-de Vries syndrome/Gabriele-De vries syndrome", "OMIM:617557": "Gabriele-de Vries syndrome/Gabriele-De vries syndrome", "ORPHA:507": "Leishmaniasis", "ORPHA:508": "Leprechaunism/Donohue syndrome", "OMIM:246200": "Leprechaunism/Donohue syndrome", "OMIM:612290": "Microtia, hearing impairment, and cleft palate", "ORPHA:50809": "Talo-patello-scaphoid osteolysis/Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals", "OMIM:609655": "Talo-patello-scaphoid osteolysis/Talo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals", "ORPHA:508093": "MEPAN syndrome/Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "OMIM:617282": "MEPAN syndrome/Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "ORPHA:50810": "Microlissencephaly-micromelia syndrome", "ORPHA:50811": "Lipodystrophy-intellectual disability-deafness syndrome/Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones", "OMIM:608154": "Lipodystrophy-intellectual disability-deafness syndrome/Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones", "ORPHA:50812": "Zellweger-like syndrome without peroxisomal anomalies", "ORPHA:50814": "Craniolenticulosutural dysplasia/Craniolenticulosutural dysplasia", "OMIM:607812": "Craniolenticulosutural dysplasia/Craniolenticulosutural dysplasia", "ORPHA:50815": "Branchiogenic deafness syndrome/Branchiogenic-deafness syndrome", "OMIM:609166": "Branchiogenic deafness syndrome/Branchiogenic-deafness syndrome", "ORPHA:50817": "Duane anomaly-myopathy-scoliosis syndrome", "ORPHA:508410": "Familial intestinal malrotation", "ORPHA:140966": "Palmoplantar keratoderma, Nagashima type/Palmoplantar keratoderma, Nagashima type", "OMIM:615598": "Palmoplantar keratoderma, Nagashima type/Palmoplantar keratoderma, Nagashima type", "ORPHA:508488": "8q24.3 microdeletion syndrome", "OMIM:617384": "Hyperphenylalaninemia, MILD, non-bh4-deficient", "OMIM:617294": "Epidermolysis bullosa simplex, generalized, with scarring and hair loss", "ORPHA:509": "Leptospirosis", "ORPHA:50918": "Kikuchi-Fujimoto disease", "ORPHA:50942": "Striate palmoplantar keratoderma", "ORPHA:50943": "Keratolytic winter erythema/Keratolytic winter erythema", "OMIM:148370": "Keratolytic winter erythema/Keratolytic winter erythema", "ORPHA:50944": "Schöpf-Schulz-Passarge syndrome/Schopf-Schulz-Passarge syndrome", "OMIM:224750": "Schöpf-Schulz-Passarge syndrome/Schopf-Schulz-Passarge syndrome", "ORPHA:50945": "Blomstrand lethal chondrodysplasia/Chondrodysplasia, Blomstrand type", "OMIM:215045": "Blomstrand lethal chondrodysplasia/Chondrodysplasia, Blomstrand type", "ORPHA:51": "Aicardi-Goutières syndrome", "ORPHA:510": "Lesch-Nyhan syndrome/Lesch-Nyhan syndrome", "OMIM:300322": "Lesch-Nyhan syndrome/Lesch-Nyhan syndrome", "CCRD:14.2": "短QT综合征/Short QT syndrome; SQTS/Familial short QT syndrome/Short QT syndrome 1", "ORPHA:51083": "短QT综合征/Short QT syndrome; SQTS/Familial short QT syndrome/Short QT syndrome 1", "OMIM:609620": "短QT综合征/Short QT syndrome; SQTS/Familial short QT syndrome/Short QT syndrome 1", "ORPHA:140976": "RHYNS syndrome/Rhyns syndrome", "OMIM:602152": "RHYNS syndrome/Rhyns syndrome", "CCRD:67": "枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease", "ORPHA:511": "枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease", "OMIM:248600": "枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease", "ORPHA:51188": "Ethylmalonic encephalopathy/Encephalopathy, ethylmalonic", "OMIM:602473": "Ethylmalonic encephalopathy/Encephalopathy, ethylmalonic", "ORPHA:512": "Metachromatic leukodystrophy/Metachromatic leukodystrophy", "OMIM:250100": "Metachromatic leukodystrophy/Metachromatic leukodystrophy", "ORPHA:51208": "Formiminoglutamic aciduria/Formiminotransferase deficiency", "OMIM:229100": "Formiminoglutamic aciduria/Formiminotransferase deficiency", "ORPHA:512260": "Congenital cerebellar ataxia due to RNU12 mutation", "OMIM:613065": "Leukemia, acute lymphocytic, susceptibility to, 1", "ORPHA:513436": "Autosomal recessive spastic paraplegia type 78/Spastic paraplegia 78, autosomal recessive", "OMIM:617225": "Autosomal recessive spastic paraplegia type 78/Spastic paraplegia 78, autosomal recessive", "ORPHA:140989": "Primary angiitis of the central nervous system", "ORPHA:513456": "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome/Skraban-Deardorff syndrome", "OMIM:617616": "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome/Skraban-Deardorff syndrome", "ORPHA:514": "Acute monoblastic/monocytic leukemia", "ORPHA:51636": "WHIM syndrome/Whim syndrome", "OMIM:193670": "WHIM syndrome/Whim syndrome", "ORPHA:517": "Acute myelomonocytic leukemia", "OMIM:601626": "Leukemia, acute myeloid", "ORPHA:141": "Canavan disease/Canavan disease", "OMIM:271900": "Canavan disease/Canavan disease", "ORPHA:1410": "Uncombable hair syndrome", "OMIM:612913": "Orofaciodigital syndrome XI", "OMIM:258865": "Orofaciodigital syndrome IX", "OMIM:617319": "Anterior segment dysgenesis 8", "OMIM:113600": "Branchial cleft anomaliesbranchial cysts, included", "ORPHA:52": "Alagille syndrome/Alagille syndrome 1", "OMIM:118450": "Alagille syndrome/Alagille syndrome 1", "ORPHA:520": "Acute promyelocytic leukemia/Acute promyelocytic leukemia", "OMIM:612376": "Acute promyelocytic leukemia/Acute promyelocytic leukemia", "ORPHA:52022": "Potocki-Shaffer syndrome/Potocki-Shaffer syndrome", "OMIM:601224": "Potocki-Shaffer syndrome/Potocki-Shaffer syndrome", "ORPHA:52047": "Braddock syndrome", "ORPHA:52055": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome/Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia", "OMIM:300472": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome/Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia", "ORPHA:52056": "Ulnar/fibula ray defect-brachydactyly syndrome", "ORPHA:521": "Chronic myeloid leukemia/Leukemia, chronic myeloid", "OMIM:608232": "Chronic myeloid leukemia/Leukemia, chronic myeloid", "ORPHA:521258": "Xq25 microduplication syndrome/Xq25 duplication syndrome", "OMIM:300979": "Xq25 microduplication syndrome/Xq25 duplication syndrome", "OMIM:600706": "Proximal myopathy with focal depletion of mitochondria", "ORPHA:521308": "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "ORPHA:1001": "2q37 microdeletion syndrome/Chromosome 2q37 deletion syndrome", "OMIM:600430": "2q37 microdeletion syndrome/Chromosome 2q37 deletion syndrome", "ORPHA:521390": "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome/Spastic paraplegia, intellectual disability, nystagmus, and obesity", "OMIM:617296": "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome/Spastic paraplegia, intellectual disability, nystagmus, and obesity", "ORPHA:521406": "Dystonia-parkinsonism-hypermanganesemia syndrome/Hypermanganesemia with dystonia 2", "OMIM:617013": "Dystonia-parkinsonism-hypermanganesemia syndrome/Hypermanganesemia with dystonia 2", "ORPHA:521411": "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect", "OMIM:618036": "Charcot-Marie-Tooth disease, axonal, type 2DD", "ORPHA:521426": "PLAA-associated neurodevelopmental disorder/Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "OMIM:617527": "PLAA-associated neurodevelopmental disorder/Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "ORPHA:521445": "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "ORPHA:522077": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome/Baker-Gordon syndrome", "OMIM:618218": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome/Baker-Gordon syndrome", "ORPHA:523": "Hereditary leiomyomatosis and renal cell cancer/Hereditary leiomyomatosis and renal cell cancer", "OMIM:150800": "Hereditary leiomyomatosis and renal cell cancer/Hereditary leiomyomatosis and renal cell cancer", "ORPHA:52368": "Mohr-Tranebjaerg syndrome/Mohr-Tranebjaerg syndrome", "OMIM:304700": "Mohr-Tranebjaerg syndrome/Mohr-Tranebjaerg syndrome", "ORPHA:524": "Li-Fraumeni syndrome/Li-Fraumeni syndrome", "OMIM:151623": "Li-Fraumeni syndrome/Li-Fraumeni syndrome", "ORPHA:52416": "Mantle cell lymphoma", "ORPHA:52417": "MALT lymphoma/Gastric lymphoma, primary", "OMIM:137245": "MALT lymphoma/Gastric lymphoma, primary", "ORPHA:52427": "Retinitis punctata albescens", "ORPHA:52429": "Branchiootic syndrome/Branchiootic syndrome 1", "OMIM:602588": "Branchiootic syndrome/Branchiootic syndrome 1", "ORPHA:52430": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia/Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1", "OMIM:167320": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia/Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1", "ORPHA:525": "Lichen planopilaris", "ORPHA:52503": "X-linked creatine transporter deficiency/Cerebral creatine deficiency syndrome 1", "OMIM:300352": "X-linked creatine transporter deficiency/Cerebral creatine deficiency syndrome 1", "OMIM:177820": "Pseudo-Von willebrand disease", "ORPHA:525731": "Pediatric-onset Graves disease", "ORPHA:526": "Liddle syndrome", "OMIM:614286": "Myelodysplastic syndrome", "OMIM:617662": "Joint laxity, short stature, and myopia", "ORPHA:527497": "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy/Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "OMIM:617560": "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy/Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "ORPHA:528": "Congenital generalized lipodystrophy", "OMIM:617021": "Hydrops, lactic acidosis, and sideroblastic anemia", "ORPHA:529": "Roch-Leri mesosomatous lipomatosis", "ORPHA:52901": "Isolated follicle stimulating hormone deficiency/Hypogonadotropic hypogonadism 24 without anosmia", "OMIM:229070": "Isolated follicle stimulating hormone deficiency/Hypogonadotropic hypogonadism 24 without anosmia", "ORPHA:529665": "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome/Glycosylphosphatidylinositol biosynthesis defect 15", "OMIM:617810": "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome/Glycosylphosphatidylinositol biosynthesis defect 15", "ORPHA:529799": "Acute bilirubin encephalopathy", "ORPHA:529808": "Chronic bilirubin encephalopathy", "ORPHA:529962": "17q24.2 microdeletion syndrome", "ORPHA:529965": "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome/Pilarowski-Bjornsson syndrome", "OMIM:617682": "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome/Pilarowski-Bjornsson syndrome", "ORPHA:529970": "Male infertility due to acephalic spermatozoa", "ORPHA:53": "Albers-Schönberg osteopetrosis/Osteopetrosis, autosomal dominant 2", "OMIM:166600": "Albers-Schönberg osteopetrosis/Osteopetrosis, autosomal dominant 2", "ORPHA:100100": "Thymic tumor", "ORPHA:530": "Lipoid proteinosis/Urbach-Wiethe disease", "OMIM:247100": "Lipoid proteinosis/Urbach-Wiethe disease", "ORPHA:53035": "Caroli disease", "ORPHA:530838": "KRT1-related diffuse nonepidermolytic keratoderma/Palmoplantar keratoderma, nonepidermolytic", "OMIM:600962": "KRT1-related diffuse nonepidermolytic keratoderma/Palmoplantar keratoderma, nonepidermolytic", "OMIM:144650": "Hyperlipoproteinemia, type V", "ORPHA:141096": "Supernumerary nostril", "ORPHA:531": "Miller-Dieker syndrome/Miller-Dieker lissencephaly syndrome", "OMIM:247200": "Miller-Dieker syndrome/Miller-Dieker lissencephaly syndrome", "ORPHA:531151": "9q21.13 microdeletion syndrome", "ORPHA:53271": "Muenke syndrome/Muenke syndrome", "OMIM:602849": "Muenke syndrome/Muenke syndrome", "ORPHA:53296": "Familial cutaneous collagenoma/Collagenoma, familial cutaneous", "OMIM:115250": "Familial cutaneous collagenoma/Collagenoma, familial cutaneous", "OMIM:601003": "Brody myopathy", "ORPHA:53351": "X-linked dystonia-parkinsonism/Dystonia 3, torsion, X-linked", "OMIM:314250": "X-linked dystonia-parkinsonism/Dystonia 3, torsion, X-linked", "ORPHA:53372": "Hereditary geniospasm/Geniospasm 1", "OMIM:190100": "Hereditary geniospasm/Geniospasm 1", "ORPHA:534": "Oculocerebrorenal syndrome of Lowe/Lowe syndrome", "OMIM:309000": "Oculocerebrorenal syndrome of Lowe/Lowe syndrome", "ORPHA:535": "Rare cutaneous lupus erythematosus", "OMIM:268100": "Enhanced S-cone syndrome", "OMIM:246650": "Lipase deficiency, combined", "OMIM:615947": "Hyperlipoproteinemia, type ID", "ORPHA:53583": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity/Dystonia 9", "OMIM:601042": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity/Dystonia 9", "ORPHA:536467": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 2", "OMIM:615349": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 2", "ORPHA:536532": "Classical-like Ehlers-Danlos syndrome type 2/Ehlers-Danlos syndrome, classic-like, 2", "OMIM:618000": "Classical-like Ehlers-Danlos syndrome type 2/Ehlers-Danlos syndrome, classic-like, 2", "OMIM:214700": "Diarrhea 1, secretory chloride, congenital", "OMIM:223000": "Lactase deficiency, congenital", "ORPHA:53693": "GRACILE syndrome/Gracile syndrome", "OMIM:603358": "GRACILE syndrome/Gracile syndrome", "OMIM:611890": "Congenital arthrogryposis with anterior horn cell disease", "ORPHA:53697": "Gnathodiaphyseal dysplasia/Gnathodiaphyseal dysplasia", "OMIM:166260": "Gnathodiaphyseal dysplasia/Gnathodiaphyseal dysplasia", "ORPHA:537": "Toxic epidermal necrolysis", "ORPHA:53715": "Familial tumoral calcinosis", "ORPHA:53719": "Wyburn-Mason syndrome", "ORPHA:53721": "Spinal arteriovenous metameric syndrome", "CCRD:64": "淋巴管肌瘤病/Lymphangioleiomyomatosis; LAM/Lymphangioleiomyomatosis/LYMPHANGIOLEIOMYOMATOSIS", "ORPHA:538": "淋巴管肌瘤病/Lymphangioleiomyomatosis; LAM/Lymphangioleiomyomatosis/LYMPHANGIOLEIOMYOMATOSIS", "OMIM:606690": "淋巴管肌瘤病/Lymphangioleiomyomatosis; LAM/Lymphangioleiomyomatosis/LYMPHANGIOLEIOMYOMATOSIS", "OMIM:190340": "Trichodiscomas, familial multiple", "OMIM:308240": "Lymphoproliferative syndrome, X-linked, 1", "OMIM:300635": "Lymphoproliferative syndrome, X-linked, 2", "OMIM:618261": "Lymphoproliferative syndrome 3", "OMIM:613011": "Lymphoproliferative syndrome 1", "ORPHA:54": "X-linked recessive ocular albinism/Albinism, ocular, type I", "OMIM:300500": "X-linked recessive ocular albinism/Albinism, ocular, type I", "ORPHA:540": "Familial hemophagocytic lymphohistiocytosis/Hemophagocytic lymphohistiocytosis, familial, 1", "OMIM:267700": "Familial hemophagocytic lymphohistiocytosis/Hemophagocytic lymphohistiocytosis, familial, 1", "ORPHA:54028": "Plummer-Vinson syndrome", "ORPHA:54057": "Thrombotic thrombocytopenic purpura", "ORPHA:541423": "Growth delay-intellectual disability-hepatopathy syndrome/Growth retardation, impaired intellectual development, hypotonia, and hepatopathy", "OMIM:617093": "Growth delay-intellectual disability-hepatopathy syndrome/Growth retardation, impaired intellectual development, hypotonia, and hepatopathy", "OMIM:618131": "Immunodeficiency 58", "ORPHA:542306": "GNB5-related intellectual disability-cardiac arrhythmia syndrome/Intellectual developmental disorder with cardiac arrhythmia", "OMIM:617173": "GNB5-related intellectual disability-cardiac arrhythmia syndrome/Intellectual developmental disorder with cardiac arrhythmia", "ORPHA:542310": "Leukoencephalopathy with calcifications and cysts/Leukoencephalopathy, brain calcifications, and cysts", "OMIM:614561": "Leukoencephalopathy with calcifications and cysts/Leukoencephalopathy, brain calcifications, and cysts", "ORPHA:54247": "Posterior cortical atrophy", "ORPHA:54251": "Corticosteroid-sensitive aseptic abscess syndrome", "OMIM:617717": "Auditory neuropathy and optic atrophy", "CCRD:52.4": "左室致密化不全（LVNC）/Left ventricular non-compaction; LVNC/Left ventricular noncompaction 1", "OMIM:604169": "左室致密化不全（LVNC）/Left ventricular non-compaction; LVNC/Left ventricular noncompaction 1", "OMIM:143860": "Hyperchlorhidrosis, isolated", "ORPHA:543": "Burkitt lymphoma/Burkitt lymphoma", "OMIM:113970": "Burkitt lymphoma/Burkitt lymphoma", "ORPHA:54370": "Primary membranoproliferative glomerulonephritis", "ORPHA:544469": "PRUNE1-related neurological syndrome/Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "OMIM:617481": "PRUNE1-related neurological syndrome/Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "ORPHA:544503": "RNF13-related severe early-onset epileptic encephalopathy/Developmental and epileptic encephalopathy 73", "OMIM:618379": "RNF13-related severe early-onset epileptic encephalopathy/Developmental and epileptic encephalopathy 73", "ORPHA:141127": "Congenital tracheal stenosis", "OMIM:618414": "Myopathy, congenital, with fast-twitch (type II) fiber atrophy", "ORPHA:545": "Follicular lymphoma", "ORPHA:54595": "Craniopharyngioma", "ORPHA:549": "Legionnaires disease", "ORPHA:55": "Oculocutaneous albinism", "CCRD:72.1": "线粒体脑肌病伴卒中样发作和乳酸酸中毒（MELAS）/MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome; MELAS/MELAS/Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes", "ORPHA:550": "线粒体脑肌病伴卒中样发作和乳酸酸中毒（MELAS）/MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome; MELAS/MELAS/Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes", "OMIM:540000": "线粒体脑肌病伴卒中样发作和乳酸酸中毒（MELAS）/MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome; MELAS/MELAS/Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes", "CCRD:72.2": "肌阵挛伴破碎红纤维 （MERRF）/MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome; MERRF/MERRF/Myoclonic epilepsy associated with ragged-red fibers", "ORPHA:551": "肌阵挛伴破碎红纤维 （MERRF）/MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome; MERRF/MERRF/Myoclonic epilepsy associated with ragged-red fibers", "OMIM:545000": "肌阵挛伴破碎红纤维 （MERRF）/MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome; MERRF/MERRF/Myoclonic epilepsy associated with ragged-red fibers", "ORPHA:552": "MODY", "OMIM:618321": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2", "OMIM:617186": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "OMIM:608423": "Muscular dystrophy, limb-girdle, autosomal dominant 2", "OMIM:609115": "Limb-girdle muscular dystrophy, type 1G", "ORPHA:556": "Malakoplakia", "ORPHA:556030": "Early-onset familial hypoaldosteronism", "ORPHA:556037": "Late-onset familial hypoaldosteronism", "ORPHA:55654": "Hypotrichosis simplex/Hypotrichosis 1", "OMIM:605389": "Hypotrichosis simplex/Hypotrichosis 1", "ORPHA:557": "Non-syndromic anorectal malformation/Anorectal anomalies", "OMIM:107100": "Non-syndromic anorectal malformation/Anorectal anomalies", "OMIM:133900": "Hemifacial hyperplasia", "CCRD:68": "马方综合征/Marfan syndrome; MFS/Marfan syndrome", "ORPHA:558": "马方综合征/Marfan syndrome; MFS/Marfan syndrome", "OMIM:215300": "Chondrosarcoma", "ORPHA:55881": "Adamantinoma/Adamantinoma of long bones", "OMIM:102660": "Adamantinoma/Adamantinoma of long bones", "ORPHA:559": "Marinesco-Sjögren syndrome/Marinesco-Sjogren syndrome", "OMIM:248800": "Marinesco-Sjögren syndrome/Marinesco-Sjogren syndrome", "ORPHA:56": "Alkaptonuria/Alkaptonuria", "OMIM:203500": "Alkaptonuria/Alkaptonuria", "ORPHA:560": "Marshall syndrome/Marshall syndrome", "OMIM:154780": "Marshall syndrome/Marshall syndrome", "ORPHA:561": "Marshall-Smith syndrome/Marshall-Smith syndrome", "OMIM:602535": "Marshall-Smith syndrome/Marshall-Smith syndrome", "CCRD:69": "McCune-Albright 综合征/McCune-Albright syndrome; MAS/McCune-Albright syndrome/McCune-Albright syndrome, somatic, mosaic", "ORPHA:562": "McCune-Albright 综合征/McCune-Albright syndrome; MAS/McCune-Albright syndrome/McCune-Albright syndrome, somatic, mosaic", "OMIM:174800": "McCune-Albright 综合征/McCune-Albright syndrome; MAS/McCune-Albright syndrome/McCune-Albright syndrome, somatic, mosaic", "ORPHA:141152": "Isolated congenital hypoglossia/aglossia/Hypoglossia with situs inversus", "OMIM:612776": "Isolated congenital hypoglossia/aglossia/Hypoglossia with situs inversus", "ORPHA:563": "Peripartum cardiomyopathy", "ORPHA:56304": "Atelosteogenesis type II/Atelosteogenesis, type II", "OMIM:256050": "Atelosteogenesis type II/Atelosteogenesis, type II", "ORPHA:56305": "Atelosteogenesis type III/Atelosteogenesis, type III", "OMIM:108721": "Atelosteogenesis type III/Atelosteogenesis, type III", "ORPHA:564": "Meckel syndrome/Meckel syndrome 1", "OMIM:249000": "Meckel syndrome/Meckel syndrome 1", "ORPHA:56425": "Cold agglutinin disease", "ORPHA:565": "Menkes disease/Menkes disease", "OMIM:309400": "Menkes disease/Menkes disease", "ORPHA:566": "Congenital microcoria/Microcoria, congenital", "OMIM:156600": "Congenital microcoria/Microcoria, congenital", "ORPHA:567": "22q11.2 deletion syndrome", "ORPHA:568": "Microphthalmia, Lenz type", "ORPHA:569": "Familial or sporadic hemiplegic migraine", "ORPHA:57": "Glycogen storage disease due to aldolase A deficiency/Glycogen storage disease XII", "OMIM:611881": "Glycogen storage disease due to aldolase A deficiency/Glycogen storage disease XII", "ORPHA:570": "Moebius syndrome/Moebius syndrome", "OMIM:157900": "Moebius syndrome/Moebius syndrome", "ORPHA:57196": "Medial condensing osteitis of the clavicle", "ORPHA:572": "Immunodeficiency by defective expression of MHC class II/Bare lymphocyte syndrome, type II", "OMIM:209920": "Immunodeficiency by defective expression of MHC class II/Bare lymphocyte syndrome, type II", "ORPHA:573": "Monilethrix/Monilethrix", "OMIM:158000": "Monilethrix/Monilethrix", "ORPHA:575": "Muckle-Wells syndrome/Muckle-Wells syndrome", "OMIM:191900": "Muckle-Wells syndrome/Muckle-Wells syndrome", "ORPHA:576": "Mucolipidosis type II/Mucolipidosis II alpha/beta", "OMIM:252500": "Mucolipidosis type II/Mucolipidosis II alpha/beta", "ORPHA:577": "Mucolipidosis type III", "ORPHA:57782": "Mazabraud syndrome", "ORPHA:578": "Mucolipidosis type IV/Mucolipidosis IV", "OMIM:252650": "Mucolipidosis type IV/Mucolipidosis IV", "ORPHA:579": "Mucopolysaccharidosis type 1", "ORPHA:58": "Alexander disease/Alexander disease", "OMIM:203450": "Alexander disease/Alexander disease", "ORPHA:580": "Mucopolysaccharidosis type 2/Mucopolysaccharidosis, type II", "OMIM:309900": "Mucopolysaccharidosis type 2/Mucopolysaccharidosis, type II", "ORPHA:581": "Mucopolysaccharidosis type 3", "ORPHA:582": "Mucopolysaccharidosis type 4", "ORPHA:583": "Mucopolysaccharidosis type 6/Mucopolysaccharidosis, type VI", "OMIM:253200": "Mucopolysaccharidosis type 6/Mucopolysaccharidosis, type VI", "ORPHA:1003": "Scalp defects-postaxial polydactyly syndrome/Scalp defects and postaxial polydactyly", "OMIM:181250": "Scalp defects-postaxial polydactyly syndrome/Scalp defects and postaxial polydactyly", "ORPHA:141179": "Non-involuting congenital hemangioma", "ORPHA:584": "Mucopolysaccharidosis type 7/Mucopolysaccharidosis VII", "OMIM:253220": "Mucopolysaccharidosis type 7/Mucopolysaccharidosis VII", "ORPHA:585": "Multiple sulfatase deficiency/Multiple sulfatase deficiency", "OMIM:272200": "Multiple sulfatase deficiency/Multiple sulfatase deficiency", "CCRD:101": "囊性纤维化/Cystic fibrosis; CF/Cystic fibrosis/Cystic fibrosis", "ORPHA:586": "囊性纤维化/Cystic fibrosis; CF/Cystic fibrosis/Cystic fibrosis", "OMIM:219700": "囊性纤维化/Cystic fibrosis; CF/Cystic fibrosis/Cystic fibrosis", "ORPHA:587": "Muir-Torre syndrome/Muir-Torre syndrome", "OMIM:158320": "Muir-Torre syndrome/Muir-Torre syndrome", "ORPHA:588": "Muscle-eye-brain disease", "CCRD:32": "全身型重症肌无力/Generalized myasthenia gravis; GMG/Myasthenia gravis/Myasthenia gravis", "ORPHA:589": "全身型重症肌无力/Generalized myasthenia gravis; GMG/Myasthenia gravis/Myasthenia gravis", "OMIM:254200": "全身型重症肌无力/Generalized myasthenia gravis; GMG/Myasthenia gravis/Myasthenia gravis", "ORPHA:59": "Allan-Herndon-Dudley syndrome/Allan-Herndon-Dudley syndrome", "OMIM:300523": "Allan-Herndon-Dudley syndrome/Allan-Herndon-Dudley syndrome", "CCRD:21": "先天性肌无力综合征/Congenital myasthenic syndrome; CMS/Congenital myasthenic syndrome", "ORPHA:590": "先天性肌无力综合征/Congenital myasthenic syndrome; CMS/Congenital myasthenic syndrome", "ORPHA:59135": "Laing early-onset distal myopathy/Myopathy, distal, 1", "OMIM:160500": "Laing early-onset distal myopathy/Myopathy, distal, 1", "ORPHA:141184": "Rapidly involuting congenital hemangioma", "ORPHA:59181": "Sorsby pseudoinflammatory fundus dystrophy/Sorsby fundus dystrophy", "OMIM:136900": "Sorsby pseudoinflammatory fundus dystrophy/Sorsby fundus dystrophy", "ORPHA:592": "Macrophagic myofasciitis", "ORPHA:59303": "Neonatal ichthyosis-sclerosing cholangitis syndrome/Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis", "OMIM:607626": "Neonatal ichthyosis-sclerosing cholangitis syndrome/Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis", "ORPHA:59315": "Rhombencephalosynapsis", "ORPHA:596": "X-linked centronuclear myopathy/Myopathy, centronuclear, X-linked", "OMIM:310400": "X-linked centronuclear myopathy/Myopathy, centronuclear, X-linked", "ORPHA:597": "Central core disease/Central core disease", "OMIM:117000": "Central core disease/Central core disease", "ORPHA:598": "Multiminicore myopathy", "ORPHA:6": "3-methylcrotonyl-CoA carboxylase deficiency", "ORPHA:60": "Alpha-1-antitrypsin deficiency/Alpha-1-Antitrypsin deficiency", "OMIM:613490": "Alpha-1-antitrypsin deficiency/Alpha-1-Antitrypsin deficiency", "ORPHA:600": "Vocal cord and pharyngeal distal myopathy", "ORPHA:60015": "Enlarged parietal foramina/Parietal foramina", "OMIM:168500": "Enlarged parietal foramina/Parietal foramina", "ORPHA:60025": "Pulmonary alveolar microlithiasis/Pulmonary alveolar microlithiasis", "OMIM:265100": "Pulmonary alveolar microlithiasis/Pulmonary alveolar microlithiasis", "ORPHA:60026": "Pulmonary nodular lymphoid hyperplasia", "ORPHA:60030": "Loeys-Dietz syndrome/Loeys-Dietz syndrome 1", "OMIM:609192": "Loeys-Dietz syndrome/Loeys-Dietz syndrome 1", "ORPHA:60032": "Recurrent respiratory papillomatosis", "ORPHA:60033": "Idiopathic bronchiectasis", "ORPHA:60039": "Pudendal neuralgia", "ORPHA:60040": "Megalencephaly-capillary malformation-polymicrogyria syndrome/Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic", "OMIM:602501": "Megalencephaly-capillary malformation-polymicrogyria syndrome/Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic", "OMIM:234700": "Heart block, congenital", "ORPHA:602": "GNE myopathy/Nonaka myopathy", "OMIM:605820": "GNE myopathy/Nonaka myopathy", "ORPHA:603": "Distal myopathy, Welander type/Welander distal myopathy", "OMIM:604454": "Distal myopathy, Welander type/Welander distal myopathy", "ORPHA:606": "Proximal myotonic myopathy/Dystrophia myotonica 2", "OMIM:602668": "Proximal myotonic myopathy/Dystrophia myotonica 2", "ORPHA:609": "Tibial muscular dystrophy/Tibial muscular dystrophy, tardive", "OMIM:600334": "Tibial muscular dystrophy/Tibial muscular dystrophy, tardive", "ORPHA:61": "Alpha-mannosidosis/Alpha-mannosidosis", "OMIM:248500": "Alpha-mannosidosis/Alpha-mannosidosis", "ORPHA:610": "Bethlem myopathy/Bethlem myopathy 1", "OMIM:158810": "Bethlem myopathy/Bethlem myopathy 1", "ORPHA:611": "Inclusion body myositis/Inclusion body myositis", "OMIM:147421": "Inclusion body myositis/Inclusion body myositis", "OMIM:608390": "Myotonia, potassium-aggravated", "ORPHA:614": "Thomsen and Becker disease", "ORPHA:615": "Familial atrial myxoma/Myxoma, intracardiac", "OMIM:255960": "Familial atrial myxoma/Myxoma, intracardiac", "ORPHA:616": "Medulloblastoma/MEDULLOBLASTOMA", "OMIM:155255": "Medulloblastoma/MEDULLOBLASTOMA", "ORPHA:617": "Congenital primary megaureter", "ORPHA:618": "Familial melanoma", "ORPHA:1412": "Tarsal-carpal coalition syndrome/Tarsal-Carpal coalition syndrome", "OMIM:186570": "Tarsal-carpal coalition syndrome/Tarsal-Carpal coalition syndrome", "ORPHA:62": "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3/Muscular dystrophy, limb-girdle, type 2D", "OMIM:608099": "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3/Muscular dystrophy, limb-girdle, type 2D", "ORPHA:621": "Hereditary methemoglobinemia", "ORPHA:622": "Homocystinuria without methylmalonic aciduria", "ORPHA:624": "Familial multiple nevi flammei/Nevi flammei, familial multiple", "OMIM:163000": "Familial multiple nevi flammei/Nevi flammei, familial multiple", "ORPHA:626": "Large congenital melanocytic nevus/Melanocytic nevus syndrome, congenital", "OMIM:137550": "Large congenital melanocytic nevus/Melanocytic nevus syndrome, congenital", "ORPHA:627": "Nance-Horan syndrome/Nance-Horan syndrome", "OMIM:302350": "Nance-Horan syndrome/Nance-Horan syndrome", "ORPHA:628": "Diastrophic dysplasia/Diastrophic dysplasia", "OMIM:222600": "Diastrophic dysplasia/Diastrophic dysplasia", "OMIM:262650": "Pituitary dwarfism IV", "CCRD:3": "Alport 综合征/Alport syndrome/Alport syndrome", "ORPHA:63": "Alport 综合征/Alport syndrome/Alport syndrome", "ORPHA:631": "Non-acquired isolated growth hormone deficiency", "OMIM:307200": "Isolated growth hormone deficiency, type III, with agammaglobulinemia", "ORPHA:63259": "Iniencephaly", "ORPHA:63260": "Craniorachischisis", "ORPHA:63273": "Distal myopathy with posterior leg and anterior hand involvement/Myopathy, distal, 4", "OMIM:614065": "Distal myopathy with posterior leg and anterior hand involvement/Myopathy, distal, 4", "ORPHA:63275": "Pemphigoid gestationis", "CCRD:61": "莱伦综合征/Laron syndrome; Primary growth hormone insensitivity syndrome; GHIS/Laron syndrome/Laron syndrome", "ORPHA:633": "莱伦综合征/Laron syndrome; Primary growth hormone insensitivity syndrome; GHIS/Laron syndrome/Laron syndrome", "OMIM:262500": "莱伦综合征/Laron syndrome; Primary growth hormone insensitivity syndrome; GHIS/Laron syndrome/Laron syndrome", "ORPHA:634": "Netherton syndrome/Netherton syndrome", "OMIM:256500": "Netherton syndrome/Netherton syndrome", "ORPHA:63442": "Angel-shaped phalango-epiphyseal dysplasia/Angel-Shaped phalangoepiphyseal dysplasia", "OMIM:105835": "Angel-shaped phalango-epiphyseal dysplasia/Angel-Shaped phalangoepiphyseal dysplasia", "ORPHA:63446": "Acrocapitofemoral dysplasia/Acrocapitofemoral dysplasia", "OMIM:607778": "Acrocapitofemoral dysplasia/Acrocapitofemoral dysplasia", "ORPHA:63455": "Paraneoplastic pemphigus", "ORPHA:635": "Neuroblastoma", "ORPHA:636": "Neurofibromatosis type 1", "ORPHA:637": "Full NF2-related schwannomatosis/Neurofibromatosis, type II", "OMIM:101000": "Full NF2-related schwannomatosis/Neurofibromatosis, type II", "ORPHA:638": "Neurofibromatosis-Noonan syndrome/Neurofibromatosis-Noonan syndrome", "OMIM:601321": "Neurofibromatosis-Noonan syndrome/Neurofibromatosis-Noonan syndrome", "ORPHA:63862": "Schisis association", "ORPHA:639": "Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG", "ORPHA:64": "Alström syndrome/Alstrom syndrome", "OMIM:203800": "Alström syndrome/Alstrom syndrome", "ORPHA:640": "Hereditary neuropathy with liability to pressure palsies/Neuropathy, hereditary, with liability to pressure palsies", "OMIM:162500": "Hereditary neuropathy with liability to pressure palsies/Neuropathy, hereditary, with liability to pressure palsies", "CCRD:74": "多灶性运动神经病/Multifocal motor neuropathy; MMN/Multifocal motor neuropathy", "ORPHA:641": "多灶性运动神经病/Multifocal motor neuropathy; MMN/Multifocal motor neuropathy", "ORPHA:642": "Hereditary sensory and autonomic neuropathy type 4/Insensitivity to pain, congenital, with anhidrosis", "OMIM:256800": "Hereditary sensory and autonomic neuropathy type 4/Insensitivity to pain, congenital, with anhidrosis", "ORPHA:64280": "Childhood absence epilepsy/Epilepsy, childhood absence, susceptibility to, 1", "OMIM:600131": "Childhood absence epilepsy/Epilepsy, childhood absence, susceptibility to, 1", "ORPHA:643": "Giant axonal neuropathy/Giant axonal neuropathy 1, autosomal recessive", "OMIM:256850": "Giant axonal neuropathy/Giant axonal neuropathy 1, autosomal recessive", "CCRD:72.8": "神经原性肌无力，共济失调，视网膜色素变性（NARP）/NARP syndrome/NARP syndrome/Neuropathy, ataxia, and retinitis pigmentosa", "ORPHA:644": "神经原性肌无力，共济失调，视网膜色素变性（NARP）/NARP syndrome/NARP syndrome/Neuropathy, ataxia, and retinitis pigmentosa", "OMIM:551500": "神经原性肌无力，共济失调，视网膜色素变性（NARP）/NARP syndrome/NARP syndrome/Neuropathy, ataxia, and retinitis pigmentosa", "CCRD:82.3": "尼曼匹克病C型/Niemann-Pick disease type C; NPD-C/Niemann-Pick disease type C/Niemann-pick disease, type C1", "ORPHA:646": "尼曼匹克病C型/Niemann-Pick disease type C; NPD-C/Niemann-Pick disease type C/Niemann-pick disease, type C1", "OMIM:257220": "尼曼匹克病C型/Niemann-Pick disease type C; NPD-C/Niemann-Pick disease type C/Niemann-pick disease, type C1", "ORPHA:647": "Nijmegen breakage syndrome/Nijmegen breakage syndrome", "OMIM:251260": "Nijmegen breakage syndrome/Nijmegen breakage syndrome", "ORPHA:64739": "Ovarian hyperstimulation syndrome/Ovarian hyperstimulation syndrome", "OMIM:608115": "Ovarian hyperstimulation syndrome/Ovarian hyperstimulation syndrome", "ORPHA:1005": "Alopecia-contractures-dwarfism-intellectual disability syndrome/Alopecia-Contractures-Dwarfism mental retardation syndrome", "OMIM:203550": "Alopecia-contractures-dwarfism-intellectual disability syndrome/Alopecia-Contractures-Dwarfism mental retardation syndrome", "ORPHA:64741": "Pulmonary blastoma", "OMIM:601200": "Pleuropulmonary blastoma", "ORPHA:64745": "Pruritic urticarial papules and plaques of pregnancy/Pruritic urticarial papules and plaques of pregnancy", "OMIM:178995": "Pruritic urticarial papules and plaques of pregnancy/Pruritic urticarial papules and plaques of pregnancy", "OMIM:145900": "Hypertrophic neuropathy of dejerine-sottas", "OMIM:600361": "Hereditary motor and sensory neuropathy V", "ORPHA:64752": "Hereditary sensory and autonomic neuropathy type 5/Neuropathy, hereditary sensory and autonomic, type V", "OMIM:608654": "Hereditary sensory and autonomic neuropathy type 5/Neuropathy, hereditary sensory and autonomic, type V", "ORPHA:64753": "Spinocerebellar ataxia with axonal neuropathy type 2", "ORPHA:64754": "Nevus comedonicus syndrome/Nevus comedonicus, somatic", "OMIM:617025": "Nevus comedonicus syndrome/Nevus comedonicus, somatic", "ORPHA:64755": "Becker nevus syndrome/Becker nevus syndrome", "OMIM:604919": "Becker nevus syndrome/Becker nevus syndrome", "CCRD:84": "Noonan 综合征/Noonan syndrome/Noonan syndrome/Noonan syndrome 1", "ORPHA:648": "Noonan 综合征/Noonan syndrome/Noonan syndrome/Noonan syndrome 1", "OMIM:163950": "Noonan 综合征/Noonan syndrome/Noonan syndrome/Noonan syndrome 1", "ORPHA:649": "Norrie disease/Norrie disease", "OMIM:310600": "Norrie disease/Norrie disease", "ORPHA:65": "Leber congenital amaurosis/Leber congenital amaurosis, type I", "OMIM:204000": "Leber congenital amaurosis/Leber congenital amaurosis, type I", "ORPHA:650": "LCAT deficiency", "ORPHA:652": "Multiple endocrine neoplasia type 1/Multiple endocrine neoplasia 1", "OMIM:131100": "Multiple endocrine neoplasia type 1/Multiple endocrine neoplasia 1", "ORPHA:65250": "Perineural cyst", "OMIM:614687": "Alar cleft, isolated", "ORPHA:65282": "Carvajal syndrome/Cardiomyopathy, dilated, with woolly hair and keratoderma", "OMIM:605676": "Carvajal syndrome/Cardiomyopathy, dilated, with woolly hair and keratoderma", "OMIM:601005": "Timothy syndrome", "ORPHA:65285": "Lhermitte-Duclos disease", "ORPHA:65286": "3q29 microdeletion syndrome/Chromosome 3q29 deletion syndrome", "OMIM:609425": "3q29 microdeletion syndrome/Chromosome 3q29 deletion syndrome", "OMIM:613161": "Beta-ureidopropionase deficiency", "ORPHA:65288": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome/Pancreatic and cerebellar agenesis", "OMIM:609069": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome/Pancreatic and cerebellar agenesis", "ORPHA:653": "Multiple endocrine neoplasia type 2", "ORPHA:654": "Nephroblastoma", "ORPHA:655": "Nephronophthisis/Nephronophthisis 1", "OMIM:256100": "Nephronophthisis/Nephronophthisis 1", "ORPHA:65682": "Benign recurrent intrahepatic cholestasis", "ORPHA:65684": "Monomelic amyotrophy/Amyotrophy, monomelic", "OMIM:602440": "Monomelic amyotrophy/Amyotrophy, monomelic", "CCRD:20": "先天性高胰岛素性低血糖血症/Congenital hyperinsulinemic hypoglycemia; CHI", "OMIM:609128": "Arthrogryposis, distal, type 4", "OMIM:178110": "Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "OMIM:132800": "Multiple self-healing squamous epithelioma", "OMIM:600251": "Facial clefting, oblique, 1", "ORPHA:65759": "Carpenter syndrome", "ORPHA:659": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques", "ORPHA:660": "Omphalocele", "ORPHA:661": "Congenital central hypoventilation syndrome/Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "OMIM:209880": "Congenital central hypoventilation syndrome/Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "ORPHA:662": "Yellow nail syndrome/Yellow nail syndrome", "OMIM:153300": "Yellow nail syndrome/Yellow nail syndrome", "ORPHA:663": "Mitochondrial DNA-related progressive external ophthalmoplegia", "CCRD:85": "鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to", "ORPHA:664": "鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to", "OMIM:311250": "鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to", "ORPHA:66518": "Short fifth metacarpals-insulin resistance syndrome", "CCRD:86": "成骨不全症/Osteogenesis imperfecta; OI/Osteogenesis imperfecta", "ORPHA:666": "成骨不全症/Osteogenesis imperfecta; OI/Osteogenesis imperfecta", "ORPHA:66624": "PANDAS", "ORPHA:66625": "Cerebrooculonasal syndrome/Cerebrooculonasal syndrome", "OMIM:605627": "Cerebrooculonasal syndrome/Cerebrooculonasal syndrome", "ORPHA:66627": "Tenosynovial giant cell tumor", "ORPHA:66628": "Obesity due to congenital leptin deficiency/Leptin deficiency or dysfunction", "OMIM:614962": "Obesity due to congenital leptin deficiency/Leptin deficiency or dysfunction", "ORPHA:66629": "Goldberg-Shprintzen megacolon syndrome/Goldberg-Shprintzen syndrome", "OMIM:609460": "Goldberg-Shprintzen megacolon syndrome/Goldberg-Shprintzen syndrome", "ORPHA:66630": "Congenital pseudoarthrosis of the clavicle", "ORPHA:66631": "CEDNIK syndrome/Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome", "OMIM:609528": "CEDNIK syndrome/Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome", "ORPHA:66633": "Sensorineural hearing loss-early graying-essential tremor syndrome", "ORPHA:66634": "Dilated cardiomyopathy with ataxia/3-methylglutaconic aciduria, type V", "OMIM:610198": "Dilated cardiomyopathy with ataxia/3-methylglutaconic aciduria, type V", "ORPHA:66637": "Diaphanospondylodysostosis/Diaphanospondylodysostosis", "OMIM:608022": "Diaphanospondylodysostosis/Diaphanospondylodysostosis", "ORPHA:66661": "Mast cell sarcoma", "ORPHA:667": "Autosomal recessive malignant osteopetrosis", "ORPHA:668": "Osteosarcoma/Osteosarcoma", "OMIM:259500": "Osteosarcoma/Osteosarcoma", "ORPHA:67036": "Autosomal dominant optic atrophy and cataract/Optic atrophy 3, autosomal dominant", "OMIM:165300": "Autosomal dominant optic atrophy and cataract/Optic atrophy 3, autosomal dominant", "OMIM:151400": "Leukemia, chronic lymphocytic", "ORPHA:67041": "Hyaluronidase deficiency/Mucopolysaccharidosis type IX", "OMIM:601492": "Hyaluronidase deficiency/Mucopolysaccharidosis type IX", "ORPHA:67042": "Late-onset retinal degeneration/Retinal degeneration, late-onset, autosomal dominant", "OMIM:605670": "Late-onset retinal degeneration/Retinal degeneration, late-onset, autosomal dominant", "ORPHA:67043": "Amoebic keratitis", "ORPHA:67044": "Thrombocytopenia with congenital dyserythropoietic anemia", "ORPHA:67046": "3-methylglutaconic aciduria type 1/3-methylglutaconic aciduria, type I", "OMIM:250950": "3-methylglutaconic aciduria type 1/3-methylglutaconic aciduria, type I", "ORPHA:67047": "3-methylglutaconic aciduria type 3/3-methylglutaconic aciduria, type III", "OMIM:258501": "3-methylglutaconic aciduria type 3/3-methylglutaconic aciduria, type III", "ORPHA:67048": "3-methylglutaconic aciduria type 4/3-@methylglutaconic aciduria, type IV", "OMIM:250951": "3-methylglutaconic aciduria type 4/3-@methylglutaconic aciduria, type IV", "ORPHA:672": "Pallister-Hall syndrome/Pallister-Hall syndrome", "OMIM:146510": "Pallister-Hall syndrome/Pallister-Hall syndrome", "ORPHA:673": "Malaria", "ORPHA:675": "Annular pancreas/Pancreas, annular", "OMIM:167750": "Annular pancreas/Pancreas, annular", "ORPHA:676": "Hereditary chronic pancreatitis/Pancreatitis, hereditary", "OMIM:167800": "Hereditary chronic pancreatitis/Pancreatitis, hereditary", "ORPHA:677": "Pancreatoblastoma", "ORPHA:678": "Papillon-Lefèvre syndrome/Papillon-Lefevre syndrome", "OMIM:245000": "Papillon-Lefèvre syndrome/Papillon-Lefevre syndrome", "ORPHA:679": "Malignant atrophic papulosis/Malignant atrophic papulosis", "OMIM:602248": "Malignant atrophic papulosis/Malignant atrophic papulosis", "ORPHA:681": "Hypokalemic periodic paralysis/Hypokalemic periodic paralysis, type 1", "OMIM:170400": "Hypokalemic periodic paralysis/Hypokalemic periodic paralysis, type 1", "ORPHA:682": "Hyperkalemic periodic paralysis/Hyperkalemic periodic paralysis", "OMIM:170500": "Hyperkalemic periodic paralysis/Hyperkalemic periodic paralysis", "ORPHA:683": "Progressive supranuclear palsy", "ORPHA:1006": "Alopecia antibody deficiency", "ORPHA:141291": "Cleft lip and alveolus", "ORPHA:684": "Paramyotonia congenita of Von Eulenburg/Paramyotonia congenita", "OMIM:168300": "Paramyotonia congenita of Von Eulenburg/Paramyotonia congenita", "CCRD:43": "遗传性痉挛性截瘫/Hereditary spastic paraplegia; HSP", "ORPHA:69061": "Idiopathic steroid-sensitive nephrotic syndrome", "ORPHA:69063": "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization", "ORPHA:69076": "Familial renal glucosuria/Renal glucosuria", "OMIM:233100": "Familial renal glucosuria/Renal glucosuria", "ORPHA:69077": "Rhabdoid tumor", "ORPHA:69078": "Liposarcoma", "OMIM:601957": "Odontotrichoungual-Digital-Palmar syndrome", "OMIM:601345": "Ectodermal dysplasia with natal teeth, Turnpenny type", "ORPHA:141333": "Biemond syndrome type 2/Biemond syndrome II", "OMIM:210350": "Biemond syndrome type 2/Biemond syndrome II", "ORPHA:69085": "Limb-mammary syndrome/Limb-Mammary syndrome", "OMIM:603543": "Limb-mammary syndrome/Limb-Mammary syndrome", "ORPHA:69087": "Naegeli-Franceschetti-Jadassohn syndrome/Naegeli-Franceschetti-Jadassohn syndrome", "OMIM:161000": "Naegeli-Franceschetti-Jadassohn syndrome/Naegeli-Franceschetti-Jadassohn syndrome", "ORPHA:69125": "Anonychia with flexural pigmentation/Anonychia with flexural pigmentation", "OMIM:106750": "Anonychia with flexural pigmentation/Anonychia with flexural pigmentation", "ORPHA:69126": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome/Pyogenic sterile arthritis, pyoderma gangrenosum, and acne", "OMIM:604416": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome/Pyogenic sterile arthritis, pyoderma gangrenosum, and acne", "ORPHA:69663": "Low phospholipid-associated cholelithiasis/Gallbladder disease 1", "OMIM:600803": "Low phospholipid-associated cholelithiasis/Gallbladder disease 1", "OMIM:276710": "Tyrosinemia, type III", "ORPHA:69735": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "ORPHA:69736": "Bilateral acute depigmentation of the iris", "ORPHA:1414": "Cholestasis-lymphedema syndrome/Cholestasis-Lymphedema syndrome", "OMIM:214900": "Cholestasis-lymphedema syndrome/Cholestasis-Lymphedema syndrome", "OMIM:601536": "Athabaskan brainstem dysgenesis syndrome", "ORPHA:69744": "Circumscribed palmoplantar hypokeratosis", "CCRD:72.7": "Pearson综合征/Pearson syndrome/Pearson syndrome/Pearson marrow-pancreas syndrome", "ORPHA:699": "Pearson综合征/Pearson syndrome/Pearson syndrome/Pearson marrow-pancreas syndrome", "OMIM:557000": "Pearson综合征/Pearson syndrome/Pearson syndrome/Pearson marrow-pancreas syndrome", "ORPHA:7": "3C syndrome", "CCRD:110": "脊髓性肌萎缩症/Spinal muscular atrophy; SMA/Proximal spinal muscular atrophy", "ORPHA:70": "脊髓性肌萎缩症/Spinal muscular atrophy; SMA/Proximal spinal muscular atrophy", "ORPHA:700": "Alopecia totalis", "ORPHA:701": "Alopecia universalis", "ORPHA:702": "Pelizaeus-Merzbacher disease/Pelizaeus-Merzbacher disease", "OMIM:312080": "Pelizaeus-Merzbacher disease/Pelizaeus-Merzbacher disease", "ORPHA:703": "Bullous pemphigoid", "ORPHA:704": "Pemphigus vulgaris", "ORPHA:70472": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type/Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)", "OMIM:220111": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type/Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)", "ORPHA:70474": "Leigh syndrome with cardiomyopathy", "ORPHA:70475": "Radiation proctitis", "ORPHA:70476": "Vernal keratoconjunctivitis", "ORPHA:70482": "Carcinoma of esophagus", "ORPHA:705": "Pendred syndrome/Pendred syndrome", "OMIM:274600": "Pendred syndrome/Pendred syndrome", "ORPHA:70567": "Cholangiocarcinoma", "ORPHA:1416": "Familial calcium pyrophosphate deposition/Chondrocalcinosis 2", "OMIM:118600": "Familial calcium pyrophosphate deposition/Chondrocalcinosis 2", "OMIM:182280": "Small cell cancer of the lung", "ORPHA:70578": "Adult acute respiratory distress syndrome", "ORPHA:70587": "Infant acute respiratory distress syndrome/Respiratory distress syndrome in premature infants", "OMIM:267450": "Infant acute respiratory distress syndrome/Respiratory distress syndrome in premature infants", "ORPHA:70589": "Bronchopulmonary dysplasia", "ORPHA:70591": "Chronic thromboembolic pulmonary hypertension", "ORPHA:70592": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency/Immunodeficiency 67", "OMIM:607676": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency/Immunodeficiency 67", "ORPHA:70594": "Dopa-responsive dystonia due to sepiapterin reductase deficiency/Dystonia, dopa-responsive, due to sepiapterin reductase deficiency", "OMIM:612716": "Dopa-responsive dystonia due to sepiapterin reductase deficiency/Dystonia, dopa-responsive, due to sepiapterin reductase deficiency", "ORPHA:142": "Anaplastic thyroid carcinoma", "ORPHA:70595": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome/Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "OMIM:607459": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome/Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "ORPHA:708": "Peters anomaly/Anterior segment dysgenesis 5, multiple subtypes", "OMIM:604229": "Peters anomaly/Anterior segment dysgenesis 5, multiple subtypes", "ORPHA:709": "Peters plus syndrome/Peters-plus syndrome", "OMIM:261540": "Peters plus syndrome/Peters-plus syndrome", "ORPHA:71": "Chylomicron retention disease/Chylomicron retention disease", "OMIM:246700": "Chylomicron retention disease/Chylomicron retention disease", "ORPHA:710": "Pfeiffer syndrome/Pfeiffer syndrome", "OMIM:101600": "Pfeiffer syndrome/Pfeiffer syndrome", "OMIM:613470": "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency", "ORPHA:1422": "Chondrodysplasia-disorder of sex development syndrome/Nivelon-Nivelon-Mabille syndrome", "OMIM:600092": "Chondrodysplasia-disorder of sex development syndrome/Nivelon-Nivelon-Mabille syndrome", "CCRD:81": "视神经脊髓炎/Neuromyelitis optica; NMO/Neuromyelitis optica spectrum disorder", "ORPHA:71211": "视神经脊髓炎/Neuromyelitis optica; NMO/Neuromyelitis optica spectrum disorder", "ORPHA:71212": "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency/Hyperinsulinemic hypoglycemia, familial, 4", "OMIM:609975": "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency/Hyperinsulinemic hypoglycemia, familial, 4", "ORPHA:71213": "Retinal capillary malformation", "ORPHA:71267": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome", "OMIM:220600": "Split-Hand/foot malformation 1 with sensorineural hearing loss", "ORPHA:71272": "Sandifer syndrome", "ORPHA:1423": "Lethal recessive chondrodysplasia", "ORPHA:71276": "Silent sinus syndrome", "ORPHA:71277": "Classic glucose transporter type 1 deficiency syndrome/GLUT1 deficiency syndrome 1, infantile onset, severe", "OMIM:606777": "Classic glucose transporter type 1 deficiency syndrome/GLUT1 deficiency syndrome 1, infantile onset, severe", "OMIM:610015": "Glutamine deficiency, congenital", "ORPHA:71289": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome/Radioulnar synostosis with amegakaryocytic thrombocytopenia", "OMIM:605432": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome/Radioulnar synostosis with amegakaryocytic thrombocytopenia", "OMIM:616216": "Thrombocytopenia 5", "ORPHA:713": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency/Phosphoglycerate kinase 1 deficiency", "OMIM:300653": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency/Phosphoglycerate kinase 1 deficiency", "OMIM:222800": "Erythrocytosis, familial, 8", "ORPHA:1008": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "ORPHA:1425": "Desbuquois syndrome/Desbuquois dysplasia 1", "OMIM:251450": "Desbuquois syndrome/Desbuquois dysplasia 1", "ORPHA:71493": "Familial thrombocytosis", "OMIM:300559": "Muscle glycogenosis, X-linked", "ORPHA:71517": "Rapid-onset dystonia-parkinsonism/Dystonia 12", "OMIM:128235": "Rapid-onset dystonia-parkinsonism/Dystonia 12", "ORPHA:71518": "Benign paroxysmal torticollis of infancy", "ORPHA:71519": "Psychogenic movement disorders", "ORPHA:71526": "Obesity due to pro-opiomelanocortin deficiency/Obesity, early-onset, with adrenal insufficiency and red hair", "OMIM:609734": "Obesity due to pro-opiomelanocortin deficiency/Obesity, early-onset, with adrenal insufficiency and red hair", "ORPHA:71528": "Obesity due to prohormone convertase I deficiency/Proprotein convertase 1/3 deficiency", "OMIM:600955": "Obesity due to prohormone convertase I deficiency/Proprotein convertase 1/3 deficiency", "ORPHA:71529": "Obesity due to melanocortin 4 receptor deficiency", "CCRD:90": "苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria", "ORPHA:716": "苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria", "OMIM:261600": "苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria", "ORPHA:1426": "Greenberg dysplasia/Greenberg skeletal dysplasia", "OMIM:215140": "Greenberg dysplasia/Greenberg skeletal dysplasia", "ORPHA:718": "Isolated Pierre Robin syndrome/Pierre Robin syndrome", "OMIM:261800": "Isolated Pierre Robin syndrome/Pierre Robin syndrome", "CCRD:5": "天使综合征/Angelman syndrome; AS/Angelman syndrome/Angelman syndrome", "ORPHA:72": "天使综合征/Angelman syndrome; AS/Angelman syndrome/Angelman syndrome", "OMIM:105830": "天使综合征/Angelman syndrome; AS/Angelman syndrome/Angelman syndrome", "ORPHA:720": "Pili bifurcati", "ORPHA:721": "Gray platelet syndrome/Gray platelet syndrome", "OMIM:139090": "Gray platelet syndrome/Gray platelet syndrome", "ORPHA:722": "Hypoplasminogenemia/Plasminogen deficiency, type I", "OMIM:217090": "Hypoplasminogenemia/Plasminogen deficiency, type I", "ORPHA:1427": "Otospondylomegaepiphyseal dysplasia/Otospondylomegaepiphyseal dysplasia", "OMIM:215150": "Otospondylomegaepiphyseal dysplasia/Otospondylomegaepiphyseal dysplasia", "ORPHA:724": "Idiopathic acute eosinophilic pneumonia", "CCRD:72.9": "Alpers-Huttenlocher综合征/Alpers-Huttenlocher syndrome/Alpers-Huttenlocher syndrome/Mitochondrial DNA depletion syndrome 4A (Alpers type)", "ORPHA:726": "Alpers-Huttenlocher综合征/Alpers-Huttenlocher syndrome/Alpers-Huttenlocher syndrome/Mitochondrial DNA depletion syndrome 4A (Alpers type)", "OMIM:203700": "Alpers-Huttenlocher综合征/Alpers-Huttenlocher syndrome/Alpers-Huttenlocher syndrome/Mitochondrial DNA depletion syndrome 4A (Alpers type)", "ORPHA:727": "Microscopic polyangiitis", "ORPHA:728": "Relapsing polychondritis", "ORPHA:729": "Polycythemia vera/Polycythemia vera", "OMIM:263300": "Polycythemia vera/Polycythemia vera", "ORPHA:73": "Gorham-Stout disease/Cystic angiomatosis of bone, diffuse", "OMIM:123880": "Gorham-Stout disease/Cystic angiomatosis of bone, diffuse", "ORPHA:731": "Autosomal recessive polycystic kidney disease", "OMIM:168900": "Patella, chondromalacia of", "ORPHA:732": "Polymyositis", "OMIM:309580": "Intellectual disability-hypotonic facies syndrome, X-linked", "ORPHA:73223": "Global developmental delay-osteopenia-ectodermal defect syndrome", "ORPHA:73224": "Kidney tubulopathy-dilated cardiomyopathy syndrome", "ORPHA:73229": "HANAC syndrome/Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "OMIM:611773": "HANAC syndrome/Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "ORPHA:73230": "Ossification anomalies-psychomotor developmental delay syndrome", "ORPHA:73245": "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome", "ORPHA:73246": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "OMIM:610247": "Esophagitis, eosinophilic, 1", "ORPHA:1429": "Benign hereditary chorea/Chorea, benign hereditary", "OMIM:118700": "Benign hereditary chorea/Chorea, benign hereditary", "ORPHA:73256": "Central neurocytoma", "ORPHA:73267": "Non-24-hour sleep-wake syndrome", "ORPHA:73272": "Growth delay due to insulin-like growth factor type 1 deficiency/Insulin-Like growth factor I deficiency", "OMIM:608747": "Growth delay due to insulin-like growth factor type 1 deficiency/Insulin-Like growth factor I deficiency", "ORPHA:73273": "Growth delay due to insulin-like growth factor I resistance/Insulin-Like growth factor I, resistance to", "OMIM:270450": "Growth delay due to insulin-like growth factor I resistance/Insulin-Like growth factor I, resistance to", "ORPHA:733": "Familial adenomatous polyposis/Adenomatous polyposis coli", "OMIM:175100": "Familial adenomatous polyposis/Adenomatous polyposis coli", "OMIM:185050": "Storage pool platelet disease", "ORPHA:143": "Parathyroid carcinoma/Parathyroid carcinoma", "OMIM:608266": "Parathyroid carcinoma/Parathyroid carcinoma", "ORPHA:735": "Porokeratosis of Mibelli", "ORPHA:737": "Porokeratosis plantaris palmaris et disseminata/Porokeratosis plantaris, palmaris, et disseminata", "OMIM:175850": "Porokeratosis plantaris palmaris et disseminata/Porokeratosis plantaris, palmaris, et disseminata", "CCRD:92": "卟啉病/Porphyria/Porphyria", "ORPHA:738": "卟啉病/Porphyria/Porphyria", "CCRD:93": "Prader-Willi 综合征/Prader-Willi syndrome; PWS/Prader-Willi syndrome/Prader-Willi syndrome", "ORPHA:739": "Prader-Willi 综合征/Prader-Willi syndrome; PWS/Prader-Willi syndrome/Prader-Willi syndrome", "OMIM:176270": "Prader-Willi 综合征/Prader-Willi syndrome; PWS/Prader-Willi syndrome/Prader-Willi syndrome", "ORPHA:740": "Hutchinson-Gilford progeria syndrome/Hutchinson-Gilford progeria syndrome", "OMIM:176670": "Hutchinson-Gilford progeria syndrome/Hutchinson-Gilford progeria syndrome", "OMIM:157700": "Mitral valve prolapse 1", "ORPHA:742": "Prolidase deficiency/Prolidase deficiency", "OMIM:170100": "Prolidase deficiency/Prolidase deficiency", "ORPHA:743": "Severe hereditary thrombophilia due to congenital protein S deficiency", "ORPHA:744": "Proteus syndrome/Proteus syndrome, somatic", "OMIM:176920": "Proteus syndrome/Proteus syndrome, somatic", "ORPHA:745": "Severe hereditary thrombophilia due to congenital protein C deficiency", "ORPHA:746": "Mitochondrial trifunctional protein deficiency/Mitochondrial trifunctional protein deficiency", "OMIM:609015": "Mitochondrial trifunctional protein deficiency/Mitochondrial trifunctional protein deficiency", "ORPHA:747": "Autoimmune pulmonary alveolar proteinosis/Pulmonary alveolar proteinosis, acquired", "OMIM:610910": "Autoimmune pulmonary alveolar proteinosis/Pulmonary alveolar proteinosis, acquired", "OMIM:612423": "Prekallikrein deficiency", "ORPHA:750": "Pseudoachondroplasia/Pseudoachondroplasia", "OMIM:177170": "Pseudoachondroplasia/Pseudoachondroplasia", "ORPHA:752": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency/Pseudohermaphroditism, male, with gynecomastia", "OMIM:264300": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency/Pseudohermaphroditism, male, with gynecomastia", "ORPHA:75233": "Wolman disease", "ORPHA:1433": "Choroidal atrophy-alopecia syndrome", "ORPHA:75234": "Cholesteryl ester storage disease", "ORPHA:753": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency/Pseudovaginal perineoscrotal hypospadias", "OMIM:264600": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency/Pseudovaginal perineoscrotal hypospadias", "ORPHA:75325": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome/Osteosclerosis - ichthyosis - premature ovarian failure", "OMIM:609993": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome/Osteosclerosis - ichthyosis - premature ovarian failure", "OMIM:180000": "Retinal arteries, tortuosity of", "OMIM:136550": "Macular dystrophy, retinal, 1, north Carolina type", "ORPHA:75373": "Progressive bifocal chorioretinal atrophy/Chorioretinal atrophy, progressive bifocal", "OMIM:600790": "Progressive bifocal chorioretinal atrophy/Chorioretinal atrophy, progressive bifocal", "ORPHA:75374": "Bradyopsia/BRADYOPSIA", "OMIM:608415": "Bradyopsia/BRADYOPSIA", "ORPHA:75376": "Familial drusen/Doyne honeycomb retinal dystrophy", "OMIM:126600": "Familial drusen/Doyne honeycomb retinal dystrophy", "ORPHA:75377": "Central areolar choroidal dystrophy/Choroidal dystrophy, central areolar 1", "OMIM:215500": "Central areolar choroidal dystrophy/Choroidal dystrophy, central areolar 1", "ORPHA:1435": "Xq21 microdeletion syndrome/Xq21 deletion syndrome", "OMIM:303110": "Xq21 microdeletion syndrome/Xq21 deletion syndrome", "ORPHA:75378": "Oligocone trichromacy", "OMIM:153880": "Macular edema, cystoid", "ORPHA:75382": "Oguchi disease/Oguchi disease 1", "OMIM:258100": "Oguchi disease/Oguchi disease 1", "ORPHA:75389": "Brain malformation-congenital heart disease-postaxial polydactyly syndrome", "OMIM:609981": "Immunodeficiency 54", "ORPHA:75392": "Periodontal Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, periodontal type, 1", "OMIM:130080": "Periodontal Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, periodontal type, 1", "ORPHA:754": "Androgen insensitivity syndrome", "ORPHA:75496": "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome", "ORPHA:75497": "X-linked Ehlers-Danlos syndrome", "ORPHA:755": "Leydig cell hypoplasia", "ORPHA:1436": "X-linked skeletal dysplasia-intellectual disability syndrome/Mental retardation, skeletal dysplasia, and abducens palsy", "OMIM:309620": "X-linked skeletal dysplasia-intellectual disability syndrome/Mental retardation, skeletal dysplasia, and abducens palsy", "ORPHA:75563": "X-linked sideroblastic anemia/Anemia, sideroblastic, X-linked", "OMIM:300751": "X-linked sideroblastic anemia/Anemia, sideroblastic, X-linked", "ORPHA:75564": "Acquired idiopathic sideroblastic anemia", "ORPHA:75567": "Primary progressive freezing gait", "ORPHA:757": "Pseudohypoaldosteronism type 2", "ORPHA:758": "Pseudoxanthoma elasticum/Pseudoxanthoma elasticum", "OMIM:264800": "Pseudoxanthoma elasticum/Pseudoxanthoma elasticum", "ORPHA:75840": "Congenital muscular dystrophy, Ullrich type/Ullrich congenital muscular dystrophy 1", "OMIM:254090": "Congenital muscular dystrophy, Ullrich type/Ullrich congenital muscular dystrophy 1", "ORPHA:100924": "Porphyria due to ALA dehydratase deficiency/Porphyria, acute hepatic", "OMIM:612740": "Porphyria due to ALA dehydratase deficiency/Porphyria, acute hepatic", "ORPHA:1437": "Ring chromosome 1 syndrome", "ORPHA:75857": "6q terminal deletion syndrome", "ORPHA:75858": "MORM syndrome/Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome", "OMIM:610156": "MORM syndrome/Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome", "ORPHA:759": "Central precocious puberty", "ORPHA:760": "Purine nucleoside phosphorylase deficiency/Immunodeficiency due to purine nucleoside phosphorylase deficiency", "OMIM:613179": "Purine nucleoside phosphorylase deficiency/Immunodeficiency due to purine nucleoside phosphorylase deficiency", "ORPHA:761": "Immunoglobulin A vasculitis", "ORPHA:763": "Pycnodysostosis/Pycnodysostosis", "OMIM:265800": "Pycnodysostosis/Pycnodysostosis", "ORPHA:764": "Pyomyositis", "ORPHA:765": "Pyruvate dehydrogenase deficiency", "ORPHA:766": "Hemolytic anemia due to red cell pyruvate kinase deficiency/Pyruvate kinase deficiency of red cells", "OMIM:266200": "Hemolytic anemia due to red cell pyruvate kinase deficiency/Pyruvate kinase deficiency of red cells", "ORPHA:1438": "Ring chromosome 10 syndrome", "ORPHA:767": "Polyarteritis nodosa", "CCRD:14.1": "长QT综合征/Long QT syndrome; LQTS", "ORPHA:769": "Rabson-Mendenhall syndrome/Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities", "OMIM:262190": "Rabson-Mendenhall syndrome/Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities", "ORPHA:770": "Rabies", "ORPHA:772": "Infantile Refsum disease", "OMIM:614103": "Lipedema", "ORPHA:77258": "Trichorhinophalangeal syndrome type 1 and 3", "ORPHA:77259": "Gaucher disease type 1/Gaucher disease, type I", "OMIM:230800": "Gaucher disease type 1/Gaucher disease, type I", "ORPHA:77260": "Gaucher disease type 2/Gaucher disease, type II", "OMIM:230900": "Gaucher disease type 2/Gaucher disease, type II", "ORPHA:1439": "Ring chromosome 12 syndrome", "ORPHA:77261": "Gaucher disease type 3/Gaucher disease, type III", "OMIM:231000": "Gaucher disease type 3/Gaucher disease, type III", "CCRD:82.1": "尼曼匹克病A型/Niemann-Pick disease type A; NPD-A/Niemann-Pick disease, type A", "OMIM:257200": "尼曼匹克病A型/Niemann-Pick disease type A; NPD-A/Niemann-Pick disease, type A", "CCRD:82.2": "尼曼匹克病B型/Niemann-Pick disease type B; NPD-B/Chronic visceral acid sphingomyelinase deficiency/Niemann-pick disease, type B", "ORPHA:77293": "尼曼匹克病B型/Niemann-Pick disease type B; NPD-B/Chronic visceral acid sphingomyelinase deficiency/Niemann-pick disease, type B", "OMIM:607616": "尼曼匹克病B型/Niemann-Pick disease type B; NPD-B/Chronic visceral acid sphingomyelinase deficiency/Niemann-pick disease, type B", "ORPHA:77296": "Morgagni-Stewart-Morel syndrome", "ORPHA:77297": "Majeed syndrome/Majeed syndrome", "OMIM:609628": "Majeed syndrome/Majeed syndrome", "ORPHA:77298": "Anophthalmia/microphthalmia-esophageal atresia syndrome/Microphthalmia, syndromic 3", "OMIM:206900": "Anophthalmia/microphthalmia-esophageal atresia syndrome/Microphthalmia, syndromic 3", "ORPHA:77299": "Microphthalmia-brain atrophy syndrome", "ORPHA:773": "Refsum disease/Refsum disease", "OMIM:266500": "Refsum disease/Refsum disease", "ORPHA:77300": "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "ORPHA:144": "Lynch syndrome/Lynch syndrome I", "OMIM:120435": "Lynch syndrome/Lynch syndrome I", "ORPHA:77301": "Monosomy 9q22.3", "ORPHA:774": "Hereditary hemorrhagic telangiectasia/Telangiectasia, hereditary hemorrhagic, type 1", "OMIM:187300": "Hereditary hemorrhagic telangiectasia/Telangiectasia, hereditary hemorrhagic, type 1", "ORPHA:776": "Lujan-Fryns syndrome/Lujan-Fryns syndrome", "OMIM:309520": "Lujan-Fryns syndrome/Lujan-Fryns syndrome", "ORPHA:778": "Rett syndrome/Rett syndrome", "OMIM:312750": "Rett syndrome/Rett syndrome", "ORPHA:779": "Reynolds syndrome/Reynolds syndrome", "OMIM:613471": "Reynolds syndrome/Reynolds syndrome", "OMIM:616606": "Ring chromosome 14 syndrome", "ORPHA:782": "Axenfeld-Rieger syndrome/Axenfeld-Rieger syndrome, type 1", "OMIM:180500": "Axenfeld-Rieger syndrome/Axenfeld-Rieger syndrome, type 1", "ORPHA:783": "Rubinstein-Taybi syndrome", "ORPHA:785": "Estrogen resistance syndrome/Estrogen resistance", "OMIM:615363": "Estrogen resistance syndrome/Estrogen resistance", "ORPHA:786": "Generalized glucocorticoid resistance syndrome/Glucocorticoid resistance", "OMIM:615962": "Generalized glucocorticoid resistance syndrome/Glucocorticoid resistance", "ORPHA:79": "Congenital alpha2-antiplasmin deficiency/Plasmin inhibitor deficiency", "OMIM:262850": "Congenital alpha2-antiplasmin deficiency/Plasmin inhibitor deficiency", "CCRD:103": "视网膜母细胞瘤/Retinoblastoma; RB/Retinoblastoma/RETINOBLASTOMA", "ORPHA:790": "视网膜母细胞瘤/Retinoblastoma; RB/Retinoblastoma/RETINOBLASTOMA", "OMIM:180200": "视网膜母细胞瘤/Retinoblastoma; RB/Retinoblastoma/RETINOBLASTOMA", "ORPHA:79076": "Juvenile polyposis of infancy", "ORPHA:79083": "PPARG-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 3", "OMIM:604367": "PPARG-related familial partial lipodystrophy/Lipodystrophy, familial partial, type 3", "ORPHA:79084": "Familial partial lipodystrophy, Köbberling type/Lipodystrophy, familial partial, type 1", "OMIM:608600": "Familial partial lipodystrophy, Köbberling type/Lipodystrophy, familial partial, type 1", "ORPHA:79085": "AKT2-related familial partial lipodystrophy", "ORPHA:79086": "Acquired generalized lipodystrophy", "ORPHA:79087": "Acquired partial lipodystrophy/Lipodystrophy, partial, acquired, susceptibility to", "OMIM:608709": "Acquired partial lipodystrophy/Lipodystrophy, partial, acquired, susceptibility to", "ORPHA:79094": "Grange syndrome/Grange syndrome", "OMIM:602531": "Grange syndrome/Grange syndrome", "ORPHA:79095": "Congenital bile acid synthesis defect type 4/Bile acid synthesis defect, congenital, 4", "OMIM:214950": "Congenital bile acid synthesis defect type 4/Bile acid synthesis defect, congenital, 4", "ORPHA:79096": "Pyridoxal phosphate-responsive seizures/Pyridoxamine 5-prime-phosphate oxidase deficiency", "OMIM:610090": "Pyridoxal phosphate-responsive seizures/Pyridoxamine 5-prime-phosphate oxidase deficiency", "ORPHA:79099": "Interstitial granulomatous dermatitis with arthritis", "CCRD:102": "视网膜色素变性/Retinitis pigmentosa; RP/Retinitis pigmentosa/Retinitis pigmentosa", "ORPHA:791": "视网膜色素变性/Retinitis pigmentosa; RP/Retinitis pigmentosa/Retinitis pigmentosa", "OMIM:268000": "视网膜色素变性/Retinitis pigmentosa; RP/Retinitis pigmentosa/Retinitis pigmentosa", "ORPHA:79100": "Atrophoderma vermiculata/Atrophoderma vermiculata", "OMIM:209700": "Atrophoderma vermiculata/Atrophoderma vermiculata", "ORPHA:79101": "Hyperprolinemia type 2/Hyperprolinemia, type II", "OMIM:239510": "Hyperprolinemia type 2/Hyperprolinemia, type II", "ORPHA:79102": "Thyrotoxic periodic paralysis", "ORPHA:79106": "Eiken syndrome/Eiken syndrome", "OMIM:600002": "Eiken syndrome/Eiken syndrome", "ORPHA:79107": "Developmental malformations-deafness-dystonia syndrome/Dystonia, juvenile-onset", "OMIM:607371": "Developmental malformations-deafness-dystonia syndrome/Dystonia, juvenile-onset", "ORPHA:79113": "Mandibulofacial dysostosis-microcephaly syndrome/Mandibulofacial dysostosis, Guion-Almeida type", "OMIM:610536": "Mandibulofacial dysostosis-microcephaly syndrome/Mandibulofacial dysostosis, Guion-Almeida type", "OMIM:610199": "Diabetes mellitus, neonatal, with congenital hypothyroidism", "ORPHA:79124": "Hepatic veno-occlusive disease-immunodeficiency syndrome/Hepatic venoocclusive disease with immunodeficiency", "OMIM:235550": "Hepatic veno-occlusive disease-immunodeficiency syndrome/Hepatic venoocclusive disease with immunodeficiency", "ORPHA:79128": "Lymphoid interstitial pneumonia/Lymphoid interstitial pneumonia", "OMIM:247610": "Lymphoid interstitial pneumonia/Lymphoid interstitial pneumonia", "ORPHA:79129": "Trichodysplasia-amelogenesis imperfecta syndrome", "ORPHA:79133": "Focal facial dermal dysplasia type I/Focal facial dermal dysplasia 1, Brauer type", "OMIM:136500": "Focal facial dermal dysplasia type I/Focal facial dermal dysplasia 1, Brauer type", "ORPHA:79134": "DEND syndrome", "ORPHA:79135": "Episodic ataxia type 3/Episodic ataxia, type 3", "OMIM:606554": "Episodic ataxia type 3/Episodic ataxia, type 3", "ORPHA:79136": "Episodic ataxia type 4/Episodic ataxia, type 4", "OMIM:606552": "Episodic ataxia type 4/Episodic ataxia, type 4", "ORPHA:79137": "Generalized epilepsy-paroxysmal dyskinesia syndrome/Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy", "OMIM:609446": "Generalized epilepsy-paroxysmal dyskinesia syndrome/Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy", "ORPHA:79140": "Cutaneous neuroendocrine carcinoma", "ORPHA:79141": "Hereditary painful callosities/Callosities, hereditary painful", "OMIM:114140": "Hereditary painful callosities/Callosities, hereditary painful", "ORPHA:79144": "Isolated congenital onychodysplasia/Nail disorder, nonsyndromic congenital, 7", "OMIM:605779": "Isolated congenital onychodysplasia/Nail disorder, nonsyndromic congenital, 7", "ORPHA:79145": "Dowling-Degos disease/Dowling-Degos disease", "OMIM:179850": "Dowling-Degos disease/Dowling-Degos disease", "OMIM:614233": "Hyperpigmentation, familial progressive, 1", "ORPHA:79147": "Familial reactive perforating collagenosis/Collagenosis, familial reactive perforating", "OMIM:216700": "Familial reactive perforating collagenosis/Collagenosis, familial reactive perforating", "ORPHA:79148": "Elastosis perforans serpiginosa/Elastosis perforans serpiginosa", "OMIM:130100": "Elastosis perforans serpiginosa/Elastosis perforans serpiginosa", "ORPHA:79149": "Dermochondrocorneal dystrophy/Dermochondrocorneal dystrophy", "OMIM:221800": "Dermochondrocorneal dystrophy/Dermochondrocorneal dystrophy", "OMIM:614323": "Nevoid hypermelanosis, linear and whorled", "ORPHA:79151": "Acrokeratosis verruciformis of Hopf/Acrokeratosis verruciformis", "OMIM:101900": "Acrokeratosis verruciformis of Hopf/Acrokeratosis verruciformis", "ORPHA:79152": "Disseminated superficial actinic porokeratosis", "ORPHA:79153": "Idiopathic trachyonychia/Nail disorder, nonsyndromic congenital, 1", "OMIM:161050": "Idiopathic trachyonychia/Nail disorder, nonsyndromic congenital, 1", "OMIM:204750": "Alpha-aminoadipic and alpha-ketoadipic aciduria", "ORPHA:100973": "FRAXE intellectual disability/Mental retardation, X-linked, associated with fragile site fraxe", "OMIM:309548": "FRAXE intellectual disability/Mental retardation, X-linked, associated with fragile site fraxe", "ORPHA:1446": "Ring chromosome 22 syndrome", "ORPHA:79155": "Hydroxykynureninuria/Hydroxykynureninuria", "OMIM:236800": "Hydroxykynureninuria/Hydroxykynureninuria", "ORPHA:79156": "Seizures-intellectual disability due to hydroxylysinuria syndrome/Hydroxylysinuria", "OMIM:236900": "Seizures-intellectual disability due to hydroxylysinuria syndrome/Hydroxylysinuria", "OMIM:610006": "2-Methylbutyryl-Coa dehydrogenase deficiency", "ORPHA:79159": "Isobutyryl-CoA dehydrogenase deficiency/Isobutyryl-CoA dehydrogenase deficiency", "OMIM:611283": "Isobutyryl-CoA dehydrogenase deficiency/Isobutyryl-CoA dehydrogenase deficiency", "ORPHA:79168": "Disorder of bile acid synthesis", "ORPHA:1447": "Ring chromosome 4 syndrome", "ORPHA:1448": "Ring chromosome 6 syndrome", "ORPHA:1449": "Ring chromosome 7 syndrome", "ORPHA:792": "X-linked retinoschisis/Retinoschisis 1, X-linked, juvenile", "OMIM:312700": "X-linked retinoschisis/Retinoschisis 1, X-linked, juvenile", "ORPHA:145": "Hereditary breast and ovarian cancer syndrome", "CCRD:73": "黏多糖贮积症/Mucopolysaccharidoses; MPS", "ORPHA:79230": "Hemochromatosis type 2/Hemochromatosis, type 2A", "OMIM:602390": "Hemochromatosis type 2/Hemochromatosis, type 2A", "ORPHA:79233": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency/Gout, hprt-related", "OMIM:300323": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency/Gout, hprt-related", "ORPHA:1450": "Ring chromosome 8 syndrome", "ORPHA:79234": "Crigler-Najjar syndrome type 1/Crigler-Najjar syndrome, type I", "OMIM:218800": "Crigler-Najjar syndrome type 1/Crigler-Najjar syndrome, type I", "ORPHA:79235": "Crigler-Najjar syndrome type 2/Crigler-najjar syndrome, type II", "OMIM:606785": "Crigler-Najjar syndrome type 2/Crigler-najjar syndrome, type II", "ORPHA:79237": "Galactokinase deficiency/Galactokinase deficiency", "OMIM:230200": "Galactokinase deficiency/Galactokinase deficiency", "ORPHA:79238": "Galactose epimerase deficiency/Galactose epimerase deficiency", "OMIM:230350": "Galactose epimerase deficiency/Galactose epimerase deficiency", "ORPHA:79239": "Classic galactosemia/GALACTOSEMIA", "OMIM:230400": "Classic galactosemia/GALACTOSEMIA", "ORPHA:79240": "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency/Glycogen storage disease type IXb", "OMIM:261750": "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency/Glycogen storage disease type IXb", "CCRD:13": "生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset", "ORPHA:79241": "生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset", "OMIM:253260": "生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset", "CCRD:44": "全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency", "ORPHA:79242": "全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency", "OMIM:253270": "全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency", "ORPHA:79243": "Pyruvate dehydrogenase E1-alpha deficiency/Pyruvate dehydrogenase e1-alpha deficiency", "OMIM:312170": "Pyruvate dehydrogenase E1-alpha deficiency/Pyruvate dehydrogenase e1-alpha deficiency", "ORPHA:79244": "Pyruvate dehydrogenase E2 deficiency/Pyruvate dehydrogenase E2 deficiency", "OMIM:245348": "Pyruvate dehydrogenase E2 deficiency/Pyruvate dehydrogenase E2 deficiency", "ORPHA:1451": "CINCA syndrome/Cinca syndrome", "OMIM:607115": "CINCA syndrome/Cinca syndrome", "ORPHA:79246": "Pyruvate dehydrogenase phosphatase deficiency/Pyruvate dehydrogenase phosphatase deficiency", "OMIM:608782": "Pyruvate dehydrogenase phosphatase deficiency/Pyruvate dehydrogenase phosphatase deficiency", "ORPHA:79254": "Classic phenylketonuria", "ORPHA:79255": "GM1 gangliosidosis type 1/GM1-gangliosidosis, type I", "OMIM:230500": "GM1 gangliosidosis type 1/GM1-gangliosidosis, type I", "OMIM:230600": "GM1-gangliosidosis, type II", "OMIM:230650": "GM1-gangliosidosis, type III", "CCRD:35.1": "糖原累积病Ia型/Glycogen storage disease Ia/Glycogen storage disease Ia", "OMIM:232200": "糖原累积病Ia型/Glycogen storage disease Ia/Glycogen storage disease Ia", "CCRD:35.2": "糖原累积病Ib型/Glycogen storage disease Ib/Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib/Glycogen storage disease Ib", "ORPHA:79259": "糖原累积病Ib型/Glycogen storage disease Ib/Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib/Glycogen storage disease Ib", "OMIM:232220": "糖原累积病Ib型/Glycogen storage disease Ib/Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib/Glycogen storage disease Ib", "ORPHA:79262": "Adult neuronal ceroid lipofuscinosis", "ORPHA:79263": "Infantile neuronal ceroid lipofuscinosis", "ORPHA:1452": "Cleidocranial dysplasia/Cleidocranial dysplasia", "OMIM:119600": "Cleidocranial dysplasia/Cleidocranial dysplasia", "ORPHA:79264": "Juvenile neuronal ceroid lipofuscinosis", "OMIM:252900": "Mucopolysaccharidosis type IIIA", "OMIM:252920": "Mucopolysaccharidosis type IIIB", "OMIM:252930": "Mucopolysaccharidosis type IIIC", "OMIM:252940": "Mucopolysaccharidosis, type IIID", "ORPHA:79273": "Hereditary coproporphyria/Coproporphyria", "OMIM:121300": "Hereditary coproporphyria/Coproporphyria", "ORPHA:79276": "Acute intermittent porphyria/Porphyria, acute intermittent", "OMIM:176000": "Acute intermittent porphyria/Porphyria, acute intermittent", "ORPHA:79277": "Congenital erythropoietic porphyria/Porphyria, congenital erythropoietic", "OMIM:263700": "Congenital erythropoietic porphyria/Porphyria, congenital erythropoietic", "ORPHA:79278": "Autosomal erythropoietic protoporphyria/Protoporphyria, erythropoietic, 1", "OMIM:177000": "Autosomal erythropoietic protoporphyria/Protoporphyria, erythropoietic, 1", "ORPHA:79279": "Alpha-N-acetylgalactosaminidase deficiency type 1/Schindler disease, type I", "OMIM:609241": "Alpha-N-acetylgalactosaminidase deficiency type 1/Schindler disease, type I", "ORPHA:1453": "Cleidorhizomelic syndrome/Cleidorhizomelic syndrome", "OMIM:119650": "Cleidorhizomelic syndrome/Cleidorhizomelic syndrome", "ORPHA:79280": "Alpha-N-acetylgalactosaminidase deficiency type 2/Kanzaki disease", "OMIM:609242": "Alpha-N-acetylgalactosaminidase deficiency type 2/Kanzaki disease", "ORPHA:79281": "Alpha-N-acetylgalactosaminidase deficiency type 3", "ORPHA:79282": "Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type", "OMIM:277400": "Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type", "ORPHA:79283": "Methylmalonic acidemia with homocystinuria, type cblD/Methylmalonic aciduria and homocystinuria, Cbld type", "OMIM:277410": "Methylmalonic acidemia with homocystinuria, type cblD/Methylmalonic aciduria and homocystinuria, Cbld type", "ORPHA:79284": "Methylmalonic acidemia with homocystinuria type cblF/Methylmalonic aciduria and homocystinuria, Cblf type", "OMIM:277380": "Methylmalonic acidemia with homocystinuria type cblF/Methylmalonic aciduria and homocystinuria, Cblf type", "ORPHA:79292": "Fish-eye disease/Fish-Eye disease", "OMIM:136120": "Fish-eye disease/Fish-Eye disease", "OMIM:245900": "Lecithin:cholesterol acyltransferase deficiency", "ORPHA:79299": "Hyperinsulinism due to glucokinase deficiency/Hyperinsulinemic hypoglycemia, familial, 3", "OMIM:602485": "Hyperinsulinism due to glucokinase deficiency/Hyperinsulinemic hypoglycemia, familial, 3", "ORPHA:793": "SAPHO syndrome", "ORPHA:1454": "Joubert syndrome with hepatic defect/Coach syndrome 1", "OMIM:216360": "Joubert syndrome with hepatic defect/Coach syndrome 1", "ORPHA:79301": "Congenital bile acid synthesis defect type 1/Bile acid synthesis defect, congenital, 1", "OMIM:607765": "Congenital bile acid synthesis defect type 1/Bile acid synthesis defect, congenital, 1", "ORPHA:79302": "Congenital bile acid synthesis defect type 3/Bile acid synthesis defect, congenital, 3", "OMIM:613812": "Congenital bile acid synthesis defect type 3/Bile acid synthesis defect, congenital, 3", "ORPHA:79303": "Congenital bile acid synthesis defect type 2/Bile acid synthesis defect, congenital, 2", "OMIM:235555": "Congenital bile acid synthesis defect type 2/Bile acid synthesis defect, congenital, 2", "OMIM:601847": "Cholestasis, progressive familial intrahepatic 2", "OMIM:602347": "Cholestasis, progressive familial intrahepatic, 3", "OMIM:211600": "Cholestasis, progressive familial intrahepatic 1", "OMIM:251100": "Methylmalonic aciduria, vitamin B12-responsive, cblA type", "OMIM:251110": "Methylmalonic aciduria, vitamin B12-responsive, cblB type", "ORPHA:79312": "Vitamin B12-unresponsive methylmalonic acidemia type mut-", "ORPHA:79314": "L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria", "OMIM:236792": "L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria", "ORPHA:1455": "Autosomal dominant coarctation of aorta", "OMIM:600721": "D-2-Hydroxyglutaric aciduria 1", "ORPHA:79318": "PMM2-CDG/Congenital disorder of glycosylation, type Ia", "OMIM:212065": "PMM2-CDG/Congenital disorder of glycosylation, type Ia", "ORPHA:79319": "MPI-CDG/Congenital disorder of glycosylation, type Ib", "OMIM:602579": "MPI-CDG/Congenital disorder of glycosylation, type Ib", "ORPHA:79320": "ALG6-CDG/Congenital disorder of glycosylation, type Ic", "OMIM:603147": "ALG6-CDG/Congenital disorder of glycosylation, type Ic", "ORPHA:79321": "ALG3-CDG/Congenital disorder of glycosylation, type Id", "OMIM:601110": "ALG3-CDG/Congenital disorder of glycosylation, type Id", "ORPHA:79322": "DPM1-CDG/Congenital disorder of glycosylation, type IE", "OMIM:608799": "DPM1-CDG/Congenital disorder of glycosylation, type IE", "ORPHA:79323": "MPDU1-CDG/Congenital disorder of glycosylation, type IF", "OMIM:609180": "MPDU1-CDG/Congenital disorder of glycosylation, type IF", "ORPHA:79324": "ALG12-CDG/Congenital disorder of glycosylation, type Ig", "OMIM:607143": "ALG12-CDG/Congenital disorder of glycosylation, type Ig", "ORPHA:79325": "ALG8-CDG/Congenital disorder of glycosylation, type Ih", "OMIM:608104": "ALG8-CDG/Congenital disorder of glycosylation, type Ih", "ORPHA:79326": "ALG2-CDG/Congenital disorder of glycosylation, type Ii", "OMIM:607906": "ALG2-CDG/Congenital disorder of glycosylation, type Ii", "ORPHA:79327": "ALG1-CDG/Congenital disorder of glycosylation, type Ik", "OMIM:608540": "ALG1-CDG/Congenital disorder of glycosylation, type Ik", "ORPHA:79328": "ALG9-CDG/Congenital disorder of glycosylation, type Il", "OMIM:608776": "ALG9-CDG/Congenital disorder of glycosylation, type Il", "ORPHA:79329": "MGAT2-CDG/Congenital disorder of glycosylation, type IIa", "OMIM:212066": "MGAT2-CDG/Congenital disorder of glycosylation, type IIa", "ORPHA:79330": "MOGS-CDG/Congenital disorder of glycosylation, type IIB", "OMIM:606056": "MOGS-CDG/Congenital disorder of glycosylation, type IIB", "ORPHA:79332": "B4GALT1-CDG/Congenital disorder of glycosylation, type IID", "OMIM:607091": "B4GALT1-CDG/Congenital disorder of glycosylation, type IID", "ORPHA:79333": "COG7-CDG/Congenital disorder of glycosylation, type IIe", "OMIM:608779": "COG7-CDG/Congenital disorder of glycosylation, type IIe", "ORPHA:79345": "Brachytelephalangic chondrodysplasia punctata/Chondrodysplasia punctata 1, X-linked recessive", "OMIM:302950": "Brachytelephalangic chondrodysplasia punctata/Chondrodysplasia punctata 1, X-linked recessive", "OMIM:118651": "Chondrodysplasia punctata, Tibia-Metacarpal type", "ORPHA:79350": "3-phosphoserine phosphatase deficiency, infantile/juvenile form/Phosphoserine phosphatase deficiency", "OMIM:614023": "3-phosphoserine phosphatase deficiency, infantile/juvenile form/Phosphoserine phosphatase deficiency", "ORPHA:1457": "Aorta coarctation/Coarctation of aorta", "OMIM:120000": "Aorta coarctation/Coarctation of aorta", "ORPHA:79351": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form/Phosphoglycerate dehydrogenase deficiency", "OMIM:601815": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form/Phosphoglycerate dehydrogenase deficiency", "ORPHA:79357": "Hereditary palmoplantar keratoderma", "ORPHA:79358": "Porokeratosis", "ORPHA:1458": "CODAS syndrome/CODAS syndrome", "OMIM:600373": "CODAS syndrome/CODAS syndrome", "OMIM:226810": "Celiac disease, epilepsy and cerebral calcification syndrome", "ORPHA:79394": "Congenital non-bullous ichthyosiform erythroderma", "ORPHA:79395": "Keratoderma hereditarium mutilans with ichthyosis/Vohwinkel syndrome, variant form", "OMIM:604117": "Keratoderma hereditarium mutilans with ichthyosis/Vohwinkel syndrome, variant form", "ORPHA:79396": "Autosomal dominant generalized epidermolysis bullosa simplex, severe form/Epidermolysis bullosa simplex, Dowling-Meara type", "OMIM:131760": "Autosomal dominant generalized epidermolysis bullosa simplex, severe form/Epidermolysis bullosa simplex, Dowling-Meara type", "ORPHA:79397": "Epidermolysis bullosa simplex with mottled pigmentation/Epidermolysis bullosa simplex with mottled pigmentation", "OMIM:131960": "Epidermolysis bullosa simplex with mottled pigmentation/Epidermolysis bullosa simplex with mottled pigmentation", "ORPHA:79399": "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form/Epidermolysis bullosa simplex 1B, generalized intermediate", "OMIM:131900": "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form/Epidermolysis bullosa simplex 1B, generalized intermediate", "ORPHA:794": "Saethre-Chotzen syndrome/Saethre-Chotzen syndrome", "OMIM:101400": "Saethre-Chotzen syndrome/Saethre-Chotzen syndrome", "ORPHA:79400": "Localized epidermolysis bullosa simplex/Epidermolysis bullosa simplex, Weber-Cockayne type", "OMIM:131800": "Localized epidermolysis bullosa simplex/Epidermolysis bullosa simplex, Weber-Cockayne type", "ORPHA:79401": "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement/Epidermolysis bullosa simplex, Ogna type", "OMIM:131950": "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement/Epidermolysis bullosa simplex, Ogna type", "ORPHA:79402": "Intermediate generalized junctional epidermolysis bullosa", "ORPHA:79403": "Junctional epidermolysis bullosa with pyloric atresia/Epidermolysis bullosa, junctional, with pyloric atresia", "OMIM:226730": "Junctional epidermolysis bullosa with pyloric atresia/Epidermolysis bullosa, junctional, with pyloric atresia", "ORPHA:79404": "Severe generalized junctional epidermolysis bullosa/Epidermolysis bullosa, junctional, Herlitz type", "OMIM:226700": "Severe generalized junctional epidermolysis bullosa/Epidermolysis bullosa, junctional, Herlitz type", "ORPHA:1461": "Criss-cross heart", "ORPHA:79405": "Junctional epidermolysis bullosa inversa", "ORPHA:79406": "Late-onset junctional epidermolysis bullosa", "ORPHA:79408": "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form/Epidermolysis bullosa dystrophica, autosomal recessive", "OMIM:226600": "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form/Epidermolysis bullosa dystrophica, autosomal recessive", "ORPHA:79409": "Recessive dystrophic epidermolysis bullosa inversa", "ORPHA:79410": "Localized dystrophic epidermolysis bullosa, pretibial form/Epidermolysis bullosa dystrophica, pretibial", "OMIM:131850": "Localized dystrophic epidermolysis bullosa, pretibial form/Epidermolysis bullosa dystrophica, pretibial", "ORPHA:79411": "Self-improving dystrophic epidermolysis bullosa/Transient bullous dermolysis of the newborn", "OMIM:131705": "Self-improving dystrophic epidermolysis bullosa/Transient bullous dermolysis of the newborn", "ORPHA:79430": "Hermansky-Pudlak syndrome", "ORPHA:79431": "Oculocutaneous albinism type 1A/Albinism, oculocutaneous, type IA", "OMIM:203100": "Oculocutaneous albinism type 1A/Albinism, oculocutaneous, type IA", "ORPHA:79432": "Oculocutaneous albinism type 2/Albinism, oculocutaneous, type II", "OMIM:203200": "Oculocutaneous albinism type 2/Albinism, oculocutaneous, type II", "ORPHA:79433": "Oculocutaneous albinism type 3/Albinism, oculocutaneous, type III", "OMIM:203290": "Oculocutaneous albinism type 3/Albinism, oculocutaneous, type III", "ORPHA:79434": "Oculocutaneous albinism type 1B/Albinism, oculocutaneous, type IB", "OMIM:606952": "Oculocutaneous albinism type 1B/Albinism, oculocutaneous, type IB", "ORPHA:79435": "Oculocutaneous albinism type 4/Albinism, oculocutaneous, type IV", "OMIM:606574": "Oculocutaneous albinism type 4/Albinism, oculocutaneous, type IV", "ORPHA:79443": "Pseudohypoparathyroidism type 1A/Pseudohypoparathyroidism, type IA", "OMIM:103580": "Pseudohypoparathyroidism type 1A/Pseudohypoparathyroidism, type IA", "ORPHA:79444": "Pseudohypoparathyroidism type 1C/Pseudohypoparathyroidism, type IC", "OMIM:612462": "Pseudohypoparathyroidism type 1C/Pseudohypoparathyroidism, type IC", "ORPHA:79445": "Pseudopseudohypoparathyroidism/Pseudopseudohypoparathyroidism", "OMIM:612463": "Pseudopseudohypoparathyroidism/Pseudopseudohypoparathyroidism", "OMIM:312150": "Multiple pterygium syndrome, X-linked", "ORPHA:79452": "Milroy disease", "ORPHA:79455": "Cutaneous mastocytoma", "ORPHA:79456": "Diffuse cutaneous mastocytosis", "ORPHA:79457": "Maculopapular cutaneous mastocytosis", "ORPHA:79473": "Porphyria variegata/Porphyria variegata", "OMIM:176200": "Porphyria variegata/Porphyria variegata", "ORPHA:79474": "Atypical Werner syndrome", "ORPHA:79476": "Griscelli syndrome type 1/Griscelli syndrome, type 1", "OMIM:214450": "Griscelli syndrome type 1/Griscelli syndrome, type 1", "ORPHA:79477": "Griscelli syndrome type 2/Griscelli syndrome, type 2", "OMIM:607624": "Griscelli syndrome type 2/Griscelli syndrome, type 2", "ORPHA:79478": "Griscelli syndrome type 3/Griscelli syndrome, type 3", "OMIM:609227": "Griscelli syndrome type 3/Griscelli syndrome, type 3", "ORPHA:100976": "Bathing suit ichthyosis", "ORPHA:1465": "Coffin-Siris syndrome", "ORPHA:79480": "Pemphigus erythematosus", "ORPHA:79481": "Pemphigus foliaceus", "ORPHA:79492": "Pili gemini", "ORPHA:79493": "Brooke-Spiegler syndrome/Brooke-Spiegler syndrome", "OMIM:605041": "Brooke-Spiegler syndrome/Brooke-Spiegler syndrome", "ORPHA:1466": "COFS syndrome", "OMIM:307150": "Hypertrichosis, congenital generalized", "ORPHA:79499": "Autosomal dominant deafness-onychodystrophy syndrome/Deafness, congenital, and onychodystrophy, autosomal dominant", "OMIM:124480": "Autosomal dominant deafness-onychodystrophy syndrome/Deafness, congenital, and onychodystrophy, autosomal dominant", "ORPHA:79500": "DOORS syndrome/Doors syndrome", "OMIM:220500": "DOORS syndrome/Doors syndrome", "ORPHA:79501": "Punctate palmoplantar keratoderma type 1", "OMIM:175860": "Porokeratosis punctata palmaris et plantaris", "ORPHA:79503": "Ichthyosis hystrix of Curth-Macklin/Ichthyosis hystrix, Curth-Macklin type", "OMIM:146590": "Ichthyosis hystrix of Curth-Macklin/Ichthyosis hystrix, Curth-Macklin type", "ORPHA:79506": "Cholesterol-ester transfer protein deficiency/Hyperalphalipoproteinemia 1", "OMIM:143470": "Cholesterol-ester transfer protein deficiency/Hyperalphalipoproteinemia 1", "OMIM:614037": "Leukotriene C4 synthase deficiency", "ORPHA:796": "Sandhoff disease/Sandhoff disease", "OMIM:268800": "Sandhoff disease/Sandhoff disease", "ORPHA:1467": "Cogan syndrome", "ORPHA:79665": "Gardner syndrome", "ORPHA:797": "Sarcoidosis/Sarcoidosis, susceptibility to, 1", "OMIM:181000": "Sarcoidosis/Sarcoidosis, susceptibility to, 1", "ORPHA:798": "Schinzel-Giedion syndrome/Schinzel-Giedion midface-retraction syndrome", "OMIM:269150": "Schinzel-Giedion syndrome/Schinzel-Giedion midface-retraction syndrome", "ORPHA:799": "Schizencephaly/SCHIZENCEPHALY", "OMIM:269160": "Schizencephaly/SCHIZENCEPHALY", "ORPHA:8": "47,XYY syndrome", "ORPHA:800": "Schwartz-Jampel syndrome/Schwartz-jampel syndrome, type 1", "OMIM:255800": "Schwartz-Jampel syndrome/Schwartz-jampel syndrome, type 1", "ORPHA:147": "Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to", "OMIM:237300": "Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to", "ORPHA:801": "Scleroderma", "CCRD:4": "肌萎缩侧索硬化/Amyotrophic lateral sclerosis; ALS/Amyotrophic lateral sclerosis", "ORPHA:803": "肌萎缩侧索硬化/Amyotrophic lateral sclerosis; ALS/Amyotrophic lateral sclerosis", "CCRD:114": "结节性硬化症/Tuberous sclerosis complex; TSC/Tuberous sclerosis complex", "ORPHA:805": "结节性硬化症/Tuberous sclerosis complex; TSC/Tuberous sclerosis complex", "OMIM:262890": "Scott syndrome", "ORPHA:808": "Seckel syndrome", "ORPHA:809": "Mixed connective tissue disease", "ORPHA:81": "Antisynthetase syndrome", "ORPHA:811": "Shwachman-Diamond syndrome", "ORPHA:812": "Sialidosis type 1", "ORPHA:1471": "Coloboma of macula-brachydactyly type B syndrome/Coloboma of macula with type B brachydactyly", "OMIM:120400": "Coloboma of macula-brachydactyly type B syndrome/Coloboma of macula with type B brachydactyly", "CCRD:107": "Silver－Russell 综合征/Silver-Russell syndrome/Silver-Russell syndrome/Silver-Russell syndrome 1", "ORPHA:813": "Silver－Russell 综合征/Silver-Russell syndrome/Silver-Russell syndrome/Silver-Russell syndrome 1", "OMIM:180860": "Silver－Russell 综合征/Silver-Russell syndrome/Silver-Russell syndrome/Silver-Russell syndrome 1", "ORPHA:816": "Sjögren-Larsson syndrome/Sjogren-Larsson syndrome", "OMIM:270200": "Sjögren-Larsson syndrome/Sjogren-Larsson syndrome", "ORPHA:818": "Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome", "OMIM:270400": "Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome", "ORPHA:819": "Smith-Magenis syndrome/Smith-Magenis syndrome", "OMIM:182290": "Smith-Magenis syndrome/Smith-Magenis syndrome", "ORPHA:82": "Hereditary thrombophilia due to congenital antithrombin deficiency/Antithrombin III deficiency", "OMIM:613118": "Hereditary thrombophilia due to congenital antithrombin deficiency/Antithrombin III deficiency", "ORPHA:820": "Sneddon syndrome/Sneddon syndrome", "OMIM:182410": "Sneddon syndrome/Sneddon syndrome", "ORPHA:821": "Sotos syndrome", "ORPHA:822": "Hereditary spherocytosis/Spherocytosis, type 1", "OMIM:182900": "Hereditary spherocytosis/Spherocytosis, type 1", "ORPHA:1473": "Uveal coloboma-cleft lip and palate-intellectual disability/Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation", "OMIM:120433": "Uveal coloboma-cleft lip and palate-intellectual disability/Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation", "ORPHA:824": "Primary myelofibrosis/Myelofibrosis with myeloid metaplasia, somatic", "OMIM:254450": "Primary myelofibrosis/Myelofibrosis with myeloid metaplasia, somatic", "ORPHA:827": "Stargardt disease/Stargardt disease 1", "OMIM:248200": "Stargardt disease/Stargardt disease 1", "ORPHA:828": "Stickler syndrome", "ORPHA:829": "Adult-onset Still disease", "ORPHA:83": "Antley-Bixler syndrome/Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "OMIM:207410": "Antley-Bixler syndrome/Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "OMIM:245050": "Succinyl CoA:3-oxoacid CoA transferase deficiency", "ORPHA:833": "Encephalopathy due to sulfite oxidase deficiency", "ORPHA:1475": "Renal coloboma syndrome/Papillorenal syndrome", "OMIM:120330": "Renal coloboma syndrome/Papillorenal syndrome", "ORPHA:83317": "Scrub typhus", "OMIM:253300": "Spinal muscular atrophy, type I", "ORPHA:834": "Free sialic acid storage disease", "OMIM:253550": "Spinal muscular atrophy, type II", "OMIM:108800": "Atrial septal defect 1", "OMIM:253400": "Spinal muscular atrophy, type III", "OMIM:271150": "Spinal muscular atrophy, type IV", "ORPHA:83452": "Complex regional pain syndrome", "ORPHA:83453": "Vulvovaginal gingival syndrome", "ORPHA:83454": "Glomuvenous malformation/Glomuvenous malformations", "OMIM:138000": "Glomuvenous malformation/Glomuvenous malformations", "ORPHA:83461": "Congenital primary aphakia/Anterior segment dysgenesis 2", "OMIM:610256": "Congenital primary aphakia/Anterior segment dysgenesis 2", "ORPHA:83463": "Microtia/MICROTIA-ANOTIA", "OMIM:600674": "Microtia/MICROTIA-ANOTIA", "ORPHA:83465": "Narcolepsy type 2", "ORPHA:1479": "Atrial septal defect-atrioventricular conduction defects syndrome/Atrial septal defect with atrioventricular conduction defects", "OMIM:108900": "Atrial septal defect-atrioventricular conduction defects syndrome/Atrial septal defect with atrioventricular conduction defects", "ORPHA:83468": "Solitary bone cyst", "ORPHA:83469": "Desmoplastic small round cell tumor", "ORPHA:83471": "Thymic aplasia/Immune defect due to absence of thymus", "OMIM:242700": "Thymic aplasia/Immune defect due to absence of thymus", "ORPHA:83472": "CAMOS syndrome", "ORPHA:83473": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "ORPHA:148": "Multiple carboxylase deficiency", "ORPHA:83600": "Encephalitis lethargica", "ORPHA:83601": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis", "ORPHA:83617": "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "ORPHA:83619": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome", "ORPHA:83620": "Enteric anendocrinosis/Diarrhea 4, malabsorptive, congenital", "OMIM:610370": "Enteric anendocrinosis/Diarrhea 4, malabsorptive, congenital", "ORPHA:83628": "LUMBAR syndrome", "ORPHA:83629": "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome/Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration", "OMIM:300232": "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome/Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration", "OMIM:610293": "Glycosylphosphatidylinositol deficiency", "OMIM:206100": "Anemia, hypochromic microcytic, with iron overload 1", "ORPHA:838": "Susac syndrome", "ORPHA:839": "Congenital nephrotic syndrome, Finnish type/Nephrotic syndrome, type 1", "OMIM:256300": "Congenital nephrotic syndrome, Finnish type/Nephrotic syndrome, type 1", "CCRD:29": "范可尼贫血/Fanconi anemia; FA/Fanconi anemia/Fanconi anemia", "ORPHA:84": "范可尼贫血/Fanconi anemia; FA/Fanconi anemia/Fanconi anemia", "OMIM:227650": "范可尼贫血/Fanconi anemia; FA/Fanconi anemia/Fanconi anemia", "ORPHA:840": "Syringocystadenoma papilliferum", "ORPHA:84064": "Syndromic diarrhea/Trichohepatoenteric syndrome 1", "OMIM:222470": "Syndromic diarrhea/Trichohepatoenteric syndrome 1", "ORPHA:1484": "Contractures-ectodermal dysplasia-cleft lip/palate syndrome", "ORPHA:84085": "Hinman syndrome", "ORPHA:84090": "Fibronectin glomerulopathy/Glomerulopathy with fibronectin deposits 1", "OMIM:137950": "Fibronectin glomerulopathy/Glomerulopathy with fibronectin deposits 1", "ORPHA:841": "Sebocystomatosis/Steatocystoma multiplex", "OMIM:184500": "Sebocystomatosis/Steatocystoma multiplex", "ORPHA:84142": "Isaacs syndrome", "OMIM:208158": "Arthrogryposis - hyperkeratosis, lethal form", "OMIM:108950": "Atrial tachyarrhythmia with short pr interval", "ORPHA:845": "Tay-Sachs disease/Tay-Sachs disease", "OMIM:272800": "Tay-Sachs disease/Tay-Sachs disease", "ORPHA:846": "Alpha-thalassemia/ALPHA-THALASSEMIA", "OMIM:604131": "Alpha-thalassemia/ALPHA-THALASSEMIA", "ORPHA:847": "Alpha-thalassemia-X-linked intellectual disability syndrome/Alpha-Thalassemia/mental retardation syndrome, X-linked", "OMIM:301040": "Alpha-thalassemia-X-linked intellectual disability syndrome/Alpha-Thalassemia/mental retardation syndrome, X-linked", "ORPHA:848": "Beta-thalassemia", "ORPHA:849": "Glanzmann thrombasthenia/Glanzmann thrombasthenia", "OMIM:273800": "Glanzmann thrombasthenia/Glanzmann thrombasthenia", "ORPHA:851": "Paris-Trousseau thrombocytopenia/Thrombocytopenia, Paris-Trousseau type", "OMIM:188025": "Paris-Trousseau thrombocytopenia/Thrombocytopenia, Paris-Trousseau type", "OMIM:604218": "Encephalopathy, familial, with neuroserpin inclusion bodies", "ORPHA:1486": "Lethal congenital contracture syndrome type 1/Lethal congenital contracture syndrome 1", "OMIM:253310": "Lethal congenital contracture syndrome type 1/Lethal congenital contracture syndrome 1", "ORPHA:85112": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome/Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal", "OMIM:610644": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome/Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal", "ORPHA:85128": "Bothnia retinal dystrophy/Bothnia retinal dystrophy", "OMIM:607475": "Bothnia retinal dystrophy/Bothnia retinal dystrophy", "OMIM:612951": "Leukoencephalopathy, cystic, without megalencephaly", "ORPHA:85138": "Addison disease/Hypoadrenocorticism, familial", "OMIM:240200": "Addison disease/Hypoadrenocorticism, familial", "OMIM:181400": "Scapuloperoneal syndrome, neurogenic, Kaeser type", "ORPHA:85162": "Facial onset sensory and motor neuronopathy", "ORPHA:85163": "Hypomyelination-congenital cataract syndrome/Leukodystrophy, hypomyelinating, 5", "OMIM:610532": "Hypomyelination-congenital cataract syndrome/Leukodystrophy, hypomyelinating, 5", "ORPHA:85164": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome/Camptodactyly, tall stature, and hearing loss syndrome", "OMIM:610474": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome/Camptodactyly, tall stature, and hearing loss syndrome", "ORPHA:85165": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome/Achondroplasia, severe, with developmental delay and acanthosis nigricans", "OMIM:616482": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome/Achondroplasia, severe, with developmental delay and acanthosis nigricans", "ORPHA:85166": "Platyspondylic dysplasia, Torrance type/Platyspondylic lethal skeletal dysplasia, Torrance type", "OMIM:151210": "Platyspondylic dysplasia, Torrance type/Platyspondylic lethal skeletal dysplasia, Torrance type", "ORPHA:1487": "Cooks syndrome/Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges", "OMIM:106995": "Cooks syndrome/Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges", "ORPHA:85167": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome/Spondylometaphyseal dysplasia with cone-rod dystrophy", "OMIM:608940": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome/Spondylometaphyseal dysplasia with cone-rod dystrophy", "ORPHA:85168": "Craniofacial conodysplasia", "ORPHA:85169": "Familial digital arthropathy-brachydactyly/Digital arthropathy-brachydactyly, familial", "OMIM:606835": "Familial digital arthropathy-brachydactyly/Digital arthropathy-brachydactyly, familial", "ORPHA:85170": "Mesomelic dysplasia, Savarirayan type/Mesomelic dysplasia, Savarirayan type", "OMIM:605274": "Mesomelic dysplasia, Savarirayan type/Mesomelic dysplasia, Savarirayan type", "ORPHA:85172": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type/Saul-Wilson syndrome", "OMIM:618150": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type/Saul-Wilson syndrome", "ORPHA:85173": "IMAGe syndrome/Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies", "OMIM:614732": "IMAGe syndrome/Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies", "ORPHA:85174": "Pseudodiastrophic dysplasia/Pseudodiastrophic dysplasia", "OMIM:264180": "Pseudodiastrophic dysplasia/Pseudodiastrophic dysplasia", "ORPHA:85175": "Astley-Kendall dysplasia", "ORPHA:85179": "Infantile osteopetrosis with neuroaxonal dysplasia", "OMIM:112250": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma", "ORPHA:1488": "Cooper-Jabs syndrome/Aural atresia, multiple congenital anomalies, and mental retardation", "OMIM:209770": "Cooper-Jabs syndrome/Aural atresia, multiple congenital anomalies, and mental retardation", "ORPHA:85184": "Craniometadiaphyseal dysplasia, wormian bone type/Craniometadiaphyseal dysplasia", "OMIM:269300": "Craniometadiaphyseal dysplasia, wormian bone type/Craniometadiaphyseal dysplasia", "OMIM:182250": "Singleton-Merten syndrome 1", "OMIM:126550": "Calvarial doughnut lesions with bone fragility", "ORPHA:85193": "Idiopathic juvenile osteoporosis", "ORPHA:85194": "Spondylo-ocular syndrome/Spondyloocular syndrome", "OMIM:605822": "Spondylo-ocular syndrome/Spondyloocular syndrome", "OMIM:174810": "Familial expansile osteolysis", "ORPHA:85197": "Genochondromatosis type 1", "ORPHA:85198": "Dysspondyloenchondromatosis", "ORPHA:85199": "Craniosynostosis-anal anomalies-porokeratosis syndrome/CDAGS syndrome", "OMIM:603116": "Craniosynostosis-anal anomalies-porokeratosis syndrome/CDAGS syndrome", "OMIM:313900": "Thrombocytopenia 1", "ORPHA:85201": "Genitopatellar syndrome/Genitopatellar syndrome", "OMIM:606170": "Genitopatellar syndrome/Genitopatellar syndrome", "ORPHA:85202": "Keutel syndrome/Keutel syndrome", "OMIM:245150": "Keutel syndrome/Keutel syndrome", "ORPHA:85203": "Acropectoral syndrome/Acropectoral syndrome", "OMIM:605967": "Acropectoral syndrome/Acropectoral syndrome", "ORPHA:85212": "Fetal Gaucher disease/Gaucher disease, perinatal lethal", "OMIM:608013": "Fetal Gaucher disease/Gaucher disease, perinatal lethal", "ORPHA:85273": "X-linked intellectual disability, Abidi type/X-LINKED intellectual disability, Abidi type", "OMIM:300262": "X-linked intellectual disability, Abidi type/X-LINKED intellectual disability, Abidi type", "ORPHA:85274": "Syndromic X-linked intellectual disability 7/Syndromic X-linked intellectual disability 7", "OMIM:300218": "Syndromic X-linked intellectual disability 7/Syndromic X-linked intellectual disability 7", "ORPHA:85275": "Microphthalmia-ankyloblepharon-intellectual disability syndrome", "ORPHA:1490": "Corneal dystrophy-perceptive deafness syndrome/Corneal endothelial dystrophy and perceptive deafness", "OMIM:217400": "Corneal dystrophy-perceptive deafness syndrome/Corneal endothelial dystrophy and perceptive deafness", "ORPHA:85276": "X-linked intellectual disability, Armfield type/Mental retardation syndrome, X-linked, Armfield type", "OMIM:300261": "X-linked intellectual disability, Armfield type/Mental retardation syndrome, X-linked, Armfield type", "ORPHA:85277": "X-linked intellectual disability, Cantagrel type/Mental retardation, X-linked 98", "OMIM:300912": "X-linked intellectual disability, Cantagrel type/Mental retardation, X-linked 98", "ORPHA:85278": "Christianson syndrome/Mental retardation, x-linked syndromic, Christianson type", "OMIM:300243": "Christianson syndrome/Mental retardation, x-linked syndromic, Christianson type", "ORPHA:85279": "KDM5C-related syndromic X-linked intellectual disability/Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type", "OMIM:300534": "KDM5C-related syndromic X-linked intellectual disability/Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type", "ORPHA:85280": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome/Cubitus valgus with mental retardation and unusual facies", "OMIM:300471": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome/Cubitus valgus with mental retardation and unusual facies", "ORPHA:85282": "MEHMO syndrome/Mehmo syndrome", "OMIM:300148": "MEHMO syndrome/Mehmo syndrome", "ORPHA:85284": "BRESEK syndrome", "ORPHA:85285": "X-linked intellectual disability, Schimke type/Schimke X-linked mental retardation syndrome", "OMIM:312840": "X-linked intellectual disability, Schimke type/Schimke X-linked mental retardation syndrome", "ORPHA:85286": "X-linked intellectual disability, Shashi type/Mental retardation, X-linked, syndromic 11", "OMIM:300238": "X-linked intellectual disability, Shashi type/Mental retardation, X-linked, syndromic 11", "ORPHA:1493": "Vici syndrome/Vici syndrome", "OMIM:242840": "Vici syndrome/Vici syndrome", "ORPHA:85287": "X-linked intellectual disability, Siderius type/Siderius X-linked mental retardation syndrome", "OMIM:300263": "X-linked intellectual disability, Siderius type/Siderius X-linked mental retardation syndrome", "ORPHA:85288": "X-linked intellectual disability, Stocco Dos Santos type/Stocco dos santos X-linked mental retardation syndrome", "OMIM:300434": "X-linked intellectual disability, Stocco Dos Santos type/Stocco dos santos X-linked mental retardation syndrome", "ORPHA:85290": "X-linked intellectual disability, Wilson type/Mental retardation, X-linked, syndromic 12", "OMIM:309545": "X-linked intellectual disability, Wilson type/Mental retardation, X-linked, syndromic 12", "ORPHA:85292": "X-linked spinocerebellar ataxia type 4", "ORPHA:85293": "X-linked intellectual disability, Cabezas type/Mental retardation, X-linked, syndromic, Cabezas type", "OMIM:300354": "X-linked intellectual disability, Cabezas type/Mental retardation, X-linked, syndromic, Cabezas type", "ORPHA:85294": "X-linked epilepsy-learning disabilities-behavior disorders syndrome/Epilepsy, X-linked, with variable learning disabilities and behavior disorders", "OMIM:300491": "X-linked epilepsy-learning disabilities-behavior disorders syndrome/Epilepsy, X-linked, with variable learning disabilities and behavior disorders", "ORPHA:85295": "HSD10 disease, atypical type", "ORPHA:85297": "X-linked spinocerebellar ataxia type 3", "ORPHA:853": "Fetal and neonatal alloimmune thrombocytopenia", "ORPHA:85317": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "ORPHA:1495": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "ORPHA:85319": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "ORPHA:85320": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "ORPHA:85321": "Deafness-intellectual disability syndrome, Martin-Probst type/Mental retardation, X-linked, syndromic, Martin-Probst type", "OMIM:300519": "Deafness-intellectual disability syndrome, Martin-Probst type/Mental retardation, X-linked, syndromic, Martin-Probst type", "ORPHA:85322": "X-linked intellectual disability, Pai type", "ORPHA:85323": "X-linked intellectual disability, Seemanova type", "ORPHA:85324": "X-linked intellectual disability, Shrimpton type/X-LINKED intellectual disability, Shrimpton type", "OMIM:300709": "X-linked intellectual disability, Shrimpton type/X-LINKED intellectual disability, Shrimpton type", "ORPHA:85325": "X-linked intellectual disability, Stevenson type", "ORPHA:85326": "X-linked intellectual disability, Stoll type", "ORPHA:85327": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "OMIM:300706": "Mental retardation, x-linked, syndromic, Turner type, Mental retardation, x-linked syndromic, Turner type", " OMIM:309590": "Mental retardation, x-linked, syndromic, Turner type, Mental retardation, x-linked syndromic, Turner type", "ORPHA:1496": "Corpus callosum agenesis-neuronopathy syndrome/Agenesis of the corpus callosum with peripheral neuropathy", "OMIM:218000": "Corpus callosum agenesis-neuronopathy syndrome/Agenesis of the corpus callosum with peripheral neuropathy", "ORPHA:85329": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "ORPHA:85332": "X-linked intellectual disability-retinitis pigmentosa syndrome/Chromosome xp11.3 deletion syndrome", "OMIM:300578": "X-linked intellectual disability-retinitis pigmentosa syndrome/Chromosome xp11.3 deletion syndrome", "ORPHA:85334": "X-linked neurodegenerative syndrome, Bertini type", "ORPHA:85335": "Fried syndrome", "ORPHA:85336": "X-linked neurodegenerative syndrome, Hamel type", "ORPHA:85338": "X-linked intellectual disability-ataxia-apraxia syndrome", "ORPHA:85408": "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis", "ORPHA:85410": "Oligoarticular juvenile idiopathic arthritis", "ORPHA:85414": "Systemic-onset juvenile idiopathic arthritis", "ORPHA:1497": "X-linked complicated corpus callosum dysgenesis/Corpus callosum, partial agenesis of, X-linked", "OMIM:304100": "X-linked complicated corpus callosum dysgenesis/Corpus callosum, partial agenesis of, X-linked", "ORPHA:85435": "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis", "ORPHA:85436": "Psoriasis-related juvenile idiopathic arthritis", "ORPHA:85438": "Enthesitis-related juvenile idiopathic arthritis", "OMIM:262700": "Pituitary hormone deficiency, combined, 4", "CCRD:96": "原发性轻链型淀粉样变/Primary light chain amyloidosis; pAL/AL amyloidosis", "ORPHA:85443": "原发性轻链型淀粉样变/Primary light chain amyloidosis; pAL/AL amyloidosis", "ORPHA:85445": "AA amyloidosis", "ORPHA:85446": "Wild type ABeta2M amyloidosis", "ORPHA:85447": "ATTRV30M amyloidosis/Amyloidosis, hereditary, transthyretin-related", "OMIM:105210": "ATTRV30M amyloidosis/Amyloidosis, hereditary, transthyretin-related", "ORPHA:85448": "AGel amyloidosis/Amyloidosis, Finnish type", "OMIM:105120": "AGel amyloidosis/Amyloidosis, Finnish type", "ORPHA:85450": "Hereditary amyloidosis with primary renal involvement/Amyloidosis, familial visceral", "OMIM:105200": "Hereditary amyloidosis with primary renal involvement/Amyloidosis, familial visceral", "ORPHA:15": "Achondroplasia/Achondroplasia", "OMIM:100800": "Achondroplasia/Achondroplasia", "CCRD:52.5": "遗传性转甲状腺素蛋白相关淀粉样变（hATTR）/Hereditary transthyretin amyloidosis; hATTR/ATTRV122I amyloidosis", "ORPHA:85451": "遗传性转甲状腺素蛋白相关淀粉样变（hATTR）/Hereditary transthyretin amyloidosis; hATTR/ATTRV122I amyloidosis", "OMIM:301220": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked", "ORPHA:857": "Townes-Brocks syndrome", "ORPHA:858": "Congenital toxoplasmosis", "ORPHA:859": "Transcobalamin deficiency/Transcobalamin II deficiency", "OMIM:275350": "Transcobalamin deficiency/Transcobalamin II deficiency", "OMIM:100070": "Aortic aneurysm, abdominal", "ORPHA:861": "Treacher-Collins syndrome/Treacher Collins syndrome 1", "OMIM:154500": "Treacher-Collins syndrome/Treacher Collins syndrome 1", "OMIM:607107": "Nasopharyngeal carcinoma", "ORPHA:86309": "DPAGT1-CDG/Congenital disorder of glycosylation, type Ij", "OMIM:608093": "DPAGT1-CDG/Congenital disorder of glycosylation, type Ij", "ORPHA:867": "Familial multiple trichoepithelioma/Trichoepithelioma, multiple familial, 1", "OMIM:601606": "Familial multiple trichoepithelioma/Trichoepithelioma, multiple familial, 1", "ORPHA:86788": "X-linked severe congenital neutropenia/Neutropenia, severe congenital, X-linked", "OMIM:300299": "X-linked severe congenital neutropenia/Neutropenia, severe congenital, X-linked", "OMIM:168860": "Patella aplasia-hypoplasia", "ORPHA:868": "Triose phosphate-isomerase deficiency/Triosephosphate isomerase deficiency", "OMIM:615512": "Triose phosphate-isomerase deficiency/Triosephosphate isomerase deficiency", "ORPHA:86812": "POMT1-related limb-girdle muscular dystrophy R11/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "OMIM:609308": "POMT1-related limb-girdle muscular dystrophy R11/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "OMIM:108985": "Sveinsson chorioretinal atrophy", "ORPHA:1501": "Adrenocortical carcinoma", "ORPHA:86814": "Benign adult familial myoclonic epilepsy/Epilepsy, familial adult myoclonic, 1", "OMIM:601068": "Benign adult familial myoclonic epilepsy/Epilepsy, familial adult myoclonic, 1", "OMIM:180920": "Aplasia of lacrimal and salivary glands", "ORPHA:86816": "Congenital analbuminemia/Analbuminemia", "OMIM:616000": "Congenital analbuminemia/Analbuminemia", "OMIM:612631": "Adenylate kinase deficiency, hemolytic anemia due to", "ORPHA:86818": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome/AMME complex", "OMIM:300194": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome/AMME complex", "OMIM:209500": "Atrichia with papular lesions", "ORPHA:86820": "Familial avascular necrosis of femoral head", "ORPHA:86822": "Lissencephaly type 3-metacarpal bone dysplasia syndrome", "ORPHA:1505": "Short rib-polydactyly syndrome", "OMIM:607785": "Juvenile myelomonocytic leukemia", "ORPHA:86839": "Refractory anemia with excess blasts", "ORPHA:86841": "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality/Chromosome 5q deletion syndrome", "OMIM:153550": "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality/Chromosome 5q deletion syndrome", "ORPHA:86843": "Acute panmyelosis with myelofibrosis", "ORPHA:1506": "Thin ribs-tubular bones-dysmorphism syndrome", "ORPHA:1507": "Autosomal recessive Robinow syndrome/Robinow syndrome, autosomal recessive", "OMIM:268310": "Autosomal recessive Robinow syndrome/Robinow syndrome, autosomal recessive", "ORPHA:86884": "Subcutaneous panniculitis-like T-cell lymphoma/T-cell lymphoma, subcutaneous panniculitis-like", "OMIM:618398": "Subcutaneous panniculitis-like T-cell lymphoma/T-cell lymphoma, subcutaneous panniculitis-like", "ORPHA:1508": "Coxoauricular syndrome/Coxoauricular syndrome", "OMIM:122780": "Coxoauricular syndrome/Coxoauricular syndrome", "ORPHA:86893": "Nodular lymphocyte predominant Hodgkin lymphoma", "ORPHA:869": "Triple A syndrome/Achalasia-Addisonianism-Alacrima syndrome", "OMIM:231550": "Triple A syndrome/Achalasia-Addisonianism-Alacrima syndrome", "OMIM:267730": "Reticulum cell sarcoma", "ORPHA:1509": "Coxopodopatellar syndrome/Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension", "OMIM:147891": "Coxopodopatellar syndrome/Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension", "ORPHA:86909": "Myoclonic epilepsy of infancy", "OMIM:152900": "Lymphedema and cerebral arteriovenous anomaly", "OMIM:601927": "Lymphedema, cardiac septal defects, and characteristic facies", "ORPHA:86918": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome", "ORPHA:86919": "Keratosis palmaris et plantaris-clinodactyly syndrome/Keratosis palmaris et plantaris with clinodactyly", "OMIM:148520": "Keratosis palmaris et plantaris-clinodactyly syndrome/Keratosis palmaris et plantaris with clinodactyly", "OMIM:125595": "Dermatopathia pigmentosa reticularis", "ORPHA:86923": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type/Keratoderma, palmoplantar, norrbotten Recessive type", "OMIM:244850": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type/Keratoderma, palmoplantar, norrbotten Recessive type", "ORPHA:87": "Apert syndrome/Apert syndrome", "OMIM:101200": "Apert syndrome/Apert syndrome", "ORPHA:1512": "Crane-Heise syndrome", "ORPHA:870": "Down syndrome/Down syndrome", "OMIM:190685": "Down syndrome/Down syndrome", "ORPHA:871": "Familial progressive cardiac conduction defect/Progressive familial heart block, type IA", "OMIM:113900": "Familial progressive cardiac conduction defect/Progressive familial heart block, type IA", "ORPHA:873": "Desmoid tumor", "ORPHA:87503": "Mal de Meleda/Meleda disease", "OMIM:248300": "Mal de Meleda/Meleda disease", "ORPHA:87876": "Sialidosis type 2/Neuraminidase deficiency", "OMIM:256550": "Sialidosis type 2/Neuraminidase deficiency", "ORPHA:1513": "Craniodiaphyseal dysplasia/Craniodiaphyseal dysplasia, autosomal dominant", "OMIM:122860": "Craniodiaphyseal dysplasia/Craniodiaphyseal dysplasia, autosomal dominant", "CCRD:83": "非综合征性耳聋/Nonsyndromic hearing loss/Non-syndromic genetic deafness", "ORPHA:87884": "非综合征性耳聋/Nonsyndromic hearing loss/Non-syndromic genetic deafness", "ORPHA:88": "Idiopathic aplastic anemia/Aplastic anemia", "OMIM:609135": "Idiopathic aplastic anemia/Aplastic anemia", "ORPHA:881": "Turner syndrome", "CCRD:115.1": "酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I", "ORPHA:882": "酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I", "OMIM:276700": "酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I", "ORPHA:884": "Tetrasomy 12p/Pallister-Killian syndrome", "OMIM:601803": "Tetrasomy 12p/Pallister-Killian syndrome", "ORPHA:886": "Usher syndrome", "ORPHA:88618": "S-adenosylhomocysteine hydrolase deficiency/Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "OMIM:613752": "S-adenosylhomocysteine hydrolase deficiency/Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "ORPHA:1514": "Craniodigital-intellectual disability syndrome", "ORPHA:88619": "Familial acute necrotizing encephalopathy/Encephalopathy, acute, infection-induced, susceptibility to, 3", "OMIM:608033": "Familial acute necrotizing encephalopathy/Encephalopathy, acute, infection-induced, susceptibility to, 3", "OMIM:107200": "Anosmia, congenital", "ORPHA:88621": "Ichthyosis-prematurity syndrome/Ichthyosis prematurity syndrome", "OMIM:608649": "Ichthyosis-prematurity syndrome/Ichthyosis prematurity syndrome", "ORPHA:88628": "Posterior column ataxia-retinitis pigmentosa syndrome/Ataxia, posterior column, with retinitis pigmentosa", "OMIM:609033": "Posterior column ataxia-retinitis pigmentosa syndrome/Ataxia, posterior column, with retinitis pigmentosa", "ORPHA:88629": "Tritanopia/TRITANOPIA", "OMIM:190900": "Tritanopia/TRITANOPIA", "ORPHA:88630": "Terminal osseous dysplasia-pigmentary defects syndrome/Terminal osseous dysplasia", "OMIM:300244": "Terminal osseous dysplasia-pigmentary defects syndrome/Terminal osseous dysplasia", "OMIM:107250": "Anterior segment dysgenesis 1", "ORPHA:88635": "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates/Myopathy, vacuolar, with CASQ1 aggregates", "OMIM:616231": "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates/Myopathy, vacuolar, with CASQ1 aggregates", "ORPHA:88637": "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome", "ORPHA:1515": "Cranioectodermal dysplasia/Cranioectodermal dysplasia", "OMIM:218330": "Cranioectodermal dysplasia/Cranioectodermal dysplasia", "ORPHA:88639": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency/3-hydroxyisobutryl-CoA hydrolase deficiency", "OMIM:250620": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency/3-hydroxyisobutryl-CoA hydrolase deficiency", "OMIM:243000": "Indifference to pain, congenital, autosomal recessive", "ORPHA:88643": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "ORPHA:88644": "Autosomal recessive ataxia, Beauce type/Spinocerebellar ataxia, autosomal recessive 8", "OMIM:610743": "Autosomal recessive ataxia, Beauce type/Spinocerebellar ataxia, autosomal recessive 8", "OMIM:161900": "Renal failure, progressive, with hypertension", "OMIM:605115": "Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy", "ORPHA:88673": "Hepatocellular carcinoma/Hepatocellular carcinoma", "OMIM:114550": "Hepatocellular carcinoma/Hepatocellular carcinoma", "ORPHA:887": "VACTERL/VATER association/Vater associationvacterl association, included", "OMIM:192350": "VACTERL/VATER association/Vater associationvacterl association, included", "ORPHA:888": "Van der Woude syndrome/van der Woude syndrome 1", "OMIM:119300": "Van der Woude syndrome/van der Woude syndrome 1", "ORPHA:1516": "Non-syndromic bilambdoid and sagittal craniosynostosis/Craniofacial dyssynostosis with short stature", "OMIM:218350": "Non-syndromic bilambdoid and sagittal craniosynostosis/Craniofacial dyssynostosis with short stature", "ORPHA:889": "Cutaneous small vessel vasculitis", "OMIM:301050": "Alport syndrome, X-linked", "OMIM:104200": "Alport syndrome 3, autosomal dominant", "OMIM:203780": "Alport syndrome 2, autosomal recessive", "OMIM:600273": "Polycystic kidney disease, infantile severe, with tuberous sclerosis", "OMIM:145260": "Pseudohypoaldosteronism, type II", "OMIM:614491": "Pseudohypoaldosteronism, type IIB", "OMIM:614492": "Pseudohypoaldosteronism, type IIC", "OMIM:174000": "Tubulointerstitial kidney disease, autosomal dominant, 2", "OMIM:162000": "Tubulointerstitial kidney disease, autosomal dominant, 1", "ORPHA:1517": "Cantú syndrome/Hypertrichotic osteochondrodysplasia", "OMIM:239850": "Cantú syndrome/Hypertrichotic osteochondrodysplasia", "ORPHA:890": "Hepatic veno-occlusive disease", "ORPHA:892": "Von Hippel-Lindau disease/von Hippel-Lindau syndrome", "OMIM:193300": "Von Hippel-Lindau disease/von Hippel-Lindau syndrome", "ORPHA:893": "WAGR syndrome/Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome", "OMIM:194072": "WAGR syndrome/Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome", "ORPHA:894": "Waardenburg syndrome type 1/Waardenburg syndrome, type 1", "OMIM:193500": "Waardenburg syndrome type 1/Waardenburg syndrome, type 1", "ORPHA:895": "Waardenburg syndrome type 2/Waardenburg syndrome, type 2A", "OMIM:193510": "Waardenburg syndrome type 2/Waardenburg syndrome, type 2A", "ORPHA:896": "Waardenburg syndrome type 3/Waardenburg syndrome, type 3", "OMIM:148820": "Waardenburg syndrome type 3/Waardenburg syndrome, type 3", "ORPHA:1519": "SPECC1L-related hypertelorism syndrome/Teebi hypertelorism syndrome 1", "OMIM:145420": "SPECC1L-related hypertelorism syndrome/Teebi hypertelorism syndrome 1", "ORPHA:897": "Waardenburg-Shah syndrome", "OMIM:143200": "Wagner vitreoretinopathy", "ORPHA:89838": "Autosomal recessive generalized epidermolysis bullosa simplex/Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive", "OMIM:601001": "Autosomal recessive generalized epidermolysis bullosa simplex/Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive", "OMIM:226650": "Epidermolysis bullosa, junctional, Non-Herlitz type", "ORPHA:89842": "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form", "ORPHA:89843": "Dystrophic epidermolysis bullosa pruriginosa/Epidermolysis bullosa pruriginosa", "OMIM:604129": "Dystrophic epidermolysis bullosa pruriginosa/Epidermolysis bullosa pruriginosa", "ORPHA:1520": "Craniofrontonasal dysplasia/Craniofrontonasal syndrome", "OMIM:304110": "Craniofrontonasal dysplasia/Craniofrontonasal syndrome", "ORPHA:89844": "Lissencephaly syndrome, Norman-Roberts type/Lissencephaly 2", "OMIM:257320": "Lissencephaly syndrome, Norman-Roberts type/Lissencephaly 2", "ORPHA:899": "Walker-Warburg syndrome", "ORPHA:89936": "X-linked hypophosphatemia/Hypophosphatemic rickets, X-linked dominant", "OMIM:307800": "X-linked hypophosphatemia/Hypophosphatemic rickets, X-linked dominant", "ORPHA:89937": "Autosomal dominant hypophosphatemic rickets/Hypophosphatemic rickets, autosomal dominant", "OMIM:193100": "Autosomal dominant hypophosphatemic rickets/Hypophosphatemic rickets, autosomal dominant", "ORPHA:9": "Tetrasomy X", "CCRD:6": "精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia", "ORPHA:90": "精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia", "OMIM:207800": "精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia", "ORPHA:900": "Granulomatosis with polyangiitis/Granulomatosis with polyangiitis", "OMIM:608710": "Granulomatosis with polyangiitis/Granulomatosis with polyangiitis", "ORPHA:90000": "Erythema elevatum diutinum", "OMIM:300843": "Bornholm eye disease", "ORPHA:1521": "Craniofrontonasal dysplasia-Poland anomaly syndrome", "OMIM:105500": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", "ORPHA:90023": "Primary immunodeficiency syndrome due to LAMTOR2 deficiency/Immunodeficiency due to defect in mapbp-interacting protein", "OMIM:610798": "Primary immunodeficiency syndrome due to LAMTOR2 deficiency/Immunodeficiency due to defect in mapbp-interacting protein", "ORPHA:90024": "Deafness with labyrinthine aplasia, microtia, and microdontia/Deafness, congenital, with inner ear agenesis, microtia, and microdontia", "OMIM:610706": "Deafness with labyrinthine aplasia, microtia, and microdontia/Deafness, congenital, with inner ear agenesis, microtia, and microdontia", "ORPHA:90026": "Primary erythromelalgia/Erythermalgia, primary", "OMIM:133020": "Primary erythromelalgia/Erythermalgia, primary", "OMIM:235700": "Hemolytic anemia, nonspherocytic, due to hexokinase deficiency", "ORPHA:1522": "Craniometaphyseal dysplasia", "ORPHA:90033": "Autoimmune hemolytic anemia, warm type", "ORPHA:90035": "Paroxysmal cold hemoglobinuria", "ORPHA:90036": "Mixed-type autoimmune hemolytic anemia", "ORPHA:90037": "Drug-induced autoimmune hemolytic anemia", "ORPHA:90038": "Shiga toxin-associated hemolytic uremic syndrome", "ORPHA:90042": "Primary familial polycythemia/Erythrocytosis, familial, 1", "OMIM:133100": "Primary familial polycythemia/Erythrocytosis, familial, 1", "ORPHA:90044": "Familial pseudohyperkalemia/Pseudohyperkalemia, familial, 2, due to red cell leak", "OMIM:609153": "Familial pseudohyperkalemia/Pseudohyperkalemia, familial, 2, due to red cell leak", "ORPHA:90045": "Hereditary folate malabsorption/Folate malabsorption, hereditary", "OMIM:229050": "Hereditary folate malabsorption/Folate malabsorption, hereditary", "ORPHA:90050": "Retinopathy of prematurity", "ORPHA:1525": "Cranio-osteoarthropathy", "ORPHA:1527": "Craniosynostosis, Philadelphia type", "ORPHA:901": "Wells syndrome", "ORPHA:90103": "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome/Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers", "OMIM:214370": "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome/Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers", "ORPHA:90117": "Hereditary motor and sensory neuropathy, Okinawa type/Neuropathy, hereditary motor and sensory, Okinawa type", "OMIM:604484": "Hereditary motor and sensory neuropathy, Okinawa type/Neuropathy, hereditary motor and sensory, Okinawa type", "OMIM:601152": "Hereditary motor and sensory neuropathy VIA", "ORPHA:90153": "Mandibuloacral dysplasia with type A lipodystrophy/Mandibuloacral dysplasia", "OMIM:248370": "Mandibuloacral dysplasia with type A lipodystrophy/Mandibuloacral dysplasia", "ORPHA:90154": "Mandibuloacral dysplasia with type B lipodystrophy/Mandibuloacral dysplasia with type B lipodystrophy", "OMIM:608612": "Mandibuloacral dysplasia with type B lipodystrophy/Mandibuloacral dysplasia with type B lipodystrophy", "ORPHA:90156": "Centrifugal lipodystrophy", "ORPHA:1528": "Craniotelencephalic dysplasia/Craniotelencephalic dysplasia", "OMIM:218670": "Craniotelencephalic dysplasia/Craniotelencephalic dysplasia", "ORPHA:90157": "Drug-induced localized lipodystrophy", "ORPHA:90158": "Idiopathic localized lipodystrophy", "ORPHA:90159": "Panniculitis-induced localized lipodystrophy", "ORPHA:90160": "Pressure-induced localized lipoatrophy", "ORPHA:90186": "Meige disease/Lymphedema, hereditary, II", "OMIM:153200": "Meige disease/Lymphedema, hereditary, II", "ORPHA:902": "Werner syndrome/Werner syndrome", "OMIM:277700": "Werner syndrome/Werner syndrome", "ORPHA:90280": "Chilblain lupus", "ORPHA:1529": "Craniofacial-deafness-hand syndrome/Craniofacial-deafness-hand syndrome", "OMIM:122880": "Craniofacial-deafness-hand syndrome/Craniofacial-deafness-hand syndrome", "ORPHA:90289": "Localized scleroderma", "CCRD:112": "系统性硬化症/Systemic sclerosi; SSc/Systemic sclerosis", "ORPHA:90291": "系统性硬化症/Systemic sclerosi; SSc/Systemic sclerosis", "ORPHA:903": "Von Willebrand disease", "ORPHA:90301": "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome/Acanthosis nigricans with muscle cramps and acral enlargement", "OMIM:200170": "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome/Acanthosis nigricans with muscle cramps and acral enlargement", "ORPHA:90308": "Klippel-Trénaunay syndrome", "ORPHA:90340": "Blau syndrome/Blau syndrome", "OMIM:186580": "Blau syndrome/Blau syndrome", "ORPHA:90342": "Xeroderma pigmentosum variant/Xeroderma pigmentosum, Variant type", "OMIM:278750": "Xeroderma pigmentosum variant/Xeroderma pigmentosum, Variant type", "ORPHA:90348": "Autosomal dominant cutis laxa", "ORPHA:90349": "Autosomal recessive cutis laxa type 1", "ORPHA:90354": "Brittle cornea syndrome/Brittle cornea syndrome", "OMIM:229200": "Brittle cornea syndrome/Brittle cornea syndrome", "ORPHA:90362": "Primary intestinal lymphangiectasia/Lymphangiectasia, intestinal", "OMIM:152800": "Primary intestinal lymphangiectasia/Lymphangiectasia, intestinal", "ORPHA:90363": "Secondary intestinal lymphangiectasia", "ORPHA:1532": "Gómez-López-Hernández syndrome/Gomez-Lopez-Hernandez syndrome", "OMIM:601853": "Gómez-López-Hernández syndrome/Gomez-Lopez-Hernandez syndrome", "CCRD:117": "威廉姆斯综合征/Williams syndrome; WS; Williams-Beuren syndrome; WBS/Williams syndrome/Williams-Beuren syndrome", "ORPHA:904": "威廉姆斯综合征/Williams syndrome; WS; Williams-Beuren syndrome; WBS/Williams syndrome/Williams-Beuren syndrome", "OMIM:194050": "威廉姆斯综合征/Williams syndrome; WS; Williams-Beuren syndrome; WBS/Williams syndrome/Williams-Beuren syndrome", "OMIM:218550": "Craniosynostosis with fibular aplasia", "CCRD:37": "肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease", "ORPHA:905": "肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease", "OMIM:277900": "肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease", "CCRD:118": "湿疹血小板减少伴免疫缺陷综合征/Wiskott-Aldrich syndrome; WAS/Wiskott-Aldrich syndrome/Wiskott-Aldrich syndrome", "ORPHA:906": "湿疹血小板减少伴免疫缺陷综合征/Wiskott-Aldrich syndrome; WAS/Wiskott-Aldrich syndrome/Wiskott-Aldrich syndrome", "OMIM:301000": "湿疹血小板减少伴免疫缺陷综合征/Wiskott-Aldrich syndrome; WAS/Wiskott-Aldrich syndrome/Wiskott-Aldrich syndrome", "ORPHA:90646": "Deafness-hypogonadism syndrome", "ORPHA:90647": "Jervell and Lange-Nielsen syndrome/Jervell and Lange-Nielsen syndrome 1", "OMIM:220400": "Jervell and Lange-Nielsen syndrome/Jervell and Lange-Nielsen syndrome 1", "ORPHA:1538": "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome/Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus", "OMIM:123155": "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome/Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus", "ORPHA:90650": "Otopalatodigital syndrome type 1/Otopalatodigital syndrome, type I", "OMIM:311300": "Otopalatodigital syndrome type 1/Otopalatodigital syndrome, type I", "ORPHA:90652": "Otopalatodigital syndrome type 2/Otopalatodigital syndrome, type II", "OMIM:304120": "Otopalatodigital syndrome type 2/Otopalatodigital syndrome, type II", "ORPHA:90653": "Stickler syndrome type 1/Stickler syndrome, type I", "OMIM:108300": "Stickler syndrome type 1/Stickler syndrome, type I", "ORPHA:90654": "Stickler syndrome type 2/Stickler syndrome, type II", "OMIM:604841": "Stickler syndrome type 2/Stickler syndrome, type II", "ORPHA:90658": "Charcot-Marie-Tooth disease type 1E/Charcot-Marie-Tooth disease and deafness", "OMIM:118300": "Charcot-Marie-Tooth disease type 1E/Charcot-Marie-Tooth disease and deafness", "ORPHA:90673": "Hypothyroidism due to TSH receptor mutations/Hypothyroidism, congenital, nongoitrous, 1", "OMIM:275200": "Hypothyroidism due to TSH receptor mutations/Hypothyroidism, congenital, nongoitrous, 1", "ORPHA:90674": "Isolated thyroid-stimulating hormone deficiency/Hypothyroidism, congenital, nongoitrous, 4", "OMIM:275100": "Isolated thyroid-stimulating hormone deficiency/Hypothyroidism, congenital, nongoitrous, 4", "ORPHA:90695": "Non-acquired panhypopituitarism", "ORPHA:154": "Familial isolated dilated cardiomyopathy", "ORPHA:90790": "Congenital lipoid adrenal hyperplasia due to STAR deficency/Lipoid congenital adrenal hyperplasia", "OMIM:201710": "Congenital lipoid adrenal hyperplasia due to STAR deficency/Lipoid congenital adrenal hyperplasia", "ORPHA:90791": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency/Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency", "OMIM:201810": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency/Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency", "ORPHA:90793": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency", "OMIM:202110": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency", "CCRD:1": "21-羟化酶缺乏症/21-hydroxylase deficiency; 21-OHD/Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "ORPHA:90794": "21-羟化酶缺乏症/21-hydroxylase deficiency; 21-OHD/Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "OMIM:201910": "21-羟化酶缺乏症/21-hydroxylase deficiency; 21-OHD/Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "ORPHA:90795": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency", "OMIM:202010": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency", "ORPHA:90796": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency", "ORPHA:100006": "ABeta amyloidosis, Dutch type", "ORPHA:1540": "Jackson-Weiss syndrome/Jackson-Weiss syndrome", "OMIM:123150": "Jackson-Weiss syndrome/Jackson-Weiss syndrome", "ORPHA:90797": "Partial androgen insensitivity syndrome/Reifenstein syndrome", "OMIM:312300": "Partial androgen insensitivity syndrome/Reifenstein syndrome", "ORPHA:908": "Fragile X syndrome", "ORPHA:909": "Cerebrotendinous xanthomatosis/Cerebrotendinous xanthomatosis", "OMIM:213700": "Cerebrotendinous xanthomatosis/Cerebrotendinous xanthomatosis", "ORPHA:90970": "Primary lipodystrophy", "ORPHA:91": "Aromatase deficiency/Aromatase deficiency", "OMIM:613546": "Aromatase deficiency/Aromatase deficiency", "ORPHA:910": "Xeroderma pigmentosum", "ORPHA:911": "Combined immunodeficiency due to ZAP70 deficiency/Immunodeficiency 48", "OMIM:269840": "Combined immunodeficiency due to ZAP70 deficiency/Immunodeficiency 48", "OMIM:604757": "Craniosynostosis 2", "ORPHA:91130": "Cardiomyopathy-hypotonia-lactic acidosis syndrome/Mitochondrial phosphate carrier deficiency", "OMIM:610773": "Cardiomyopathy-hypotonia-lactic acidosis syndrome/Mitochondrial phosphate carrier deficiency", "ORPHA:91131": "DK1-CDG/Congenital disorder of glycosylation, type Im", "OMIM:610768": "DK1-CDG/Congenital disorder of glycosylation, type Im", "ORPHA:91132": "Ichthyosis-hypotrichosis syndrome/Ichthyosis, congenital, autosomal recessive 11", "OMIM:602400": "Ichthyosis-hypotrichosis syndrome/Ichthyosis, congenital, autosomal recessive 11", "ORPHA:91135": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency/Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency", "OMIM:610842": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency/Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency", "ORPHA:91138": "Cryoglobulinemic vasculitis/Cryoglobulinemia, familial mixed", "OMIM:123550": "Cryoglobulinemic vasculitis/Cryoglobulinemia, familial mixed", "ORPHA:912": "Zellweger syndrome/Peroxisome biogenesis disorder 1A (Zellweger)", "OMIM:214100": "Zellweger syndrome/Peroxisome biogenesis disorder 1A (Zellweger)", "ORPHA:913": "Zollinger-Ellison syndrome", "ORPHA:91347": "TSH-secreting pituitary adenoma", "ORPHA:91348": "Functioning gonadotropic adenoma", "ORPHA:91349": "Non-functioning pituitary adenoma", "ORPHA:91350": "Pituitary deficiency due to Rathke cleft cysts", "ORPHA:91351": "Pituitary dermoid and epidermoid cysts", "ORPHA:91354": "Pituitary deficiency due to empty sella turcica syndrome", "ORPHA:1545": "Crisponi syndrome", "ORPHA:91355": "Sheehan syndrome", "CCRD:38": "遗传性血管水肿/Hereditary angioedem; HAE", "ORPHA:91387": "Familial thoracic aortic aneurysm and aortic dissection", "OMIM:123570": "Cryptophthalmos, unilateral or bilateral, isolated", "ORPHA:1546": "Cryptococcosis", "ORPHA:91411": "Congenital ptosis/Ptosis, hereditary congenital 1", "OMIM:178300": "Congenital ptosis/Ptosis, hereditary congenital 1", "ORPHA:91412": "Marcus-Gunn syndrome/Marcus gunn phenomenon", "OMIM:154600": "Marcus-Gunn syndrome/Marcus gunn phenomenon", "OMIM:143000": "Horner syndrome, congenital", "ORPHA:91414": "Pilomatrixoma/Pilomatrixoma, somatic", "OMIM:132600": "Pilomatrixoma/Pilomatrixoma, somatic", "ORPHA:91416": "Isolated congenital alacrima", "OMIM:180550": "Ring dermoid of cornea", "OMIM:309300": "MEGALOCORNEA", "ORPHA:1547": "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "OMIM:216800": "Coloboma of macula and skeletal anomalies", "OMIM:193230": "Snowflake vitreoretinal degeneration", "OMIM:136480": "Fourth cranial nerve palsy, familial congenital", "ORPHA:915": "Aarskog-Scott syndrome/Aarskog-Scott syndrome", "OMIM:305400": "Aarskog-Scott syndrome/Aarskog-Scott syndrome", "ORPHA:91500": "Tubulointerstitial nephritis and uveitis syndrome", "ORPHA:91546": "Lyme disease", "ORPHA:91547": "Relapsing fever", "ORPHA:916": "Aase-Smith syndrome/Aase-Smith syndrome I", "OMIM:147800": "Aase-Smith syndrome/Aase-Smith syndrome I", "ORPHA:1548": "Cryptorchidism-arachnodactyly-intellectual disability syndrome", "ORPHA:92": "Juvenile idiopathic arthritis", "ORPHA:920": "Ablepharon macrostomia syndrome/Ablepharon-Macrostomia syndrome", "OMIM:200110": "Ablepharon macrostomia syndrome/Ablepharon-Macrostomia syndrome", "ORPHA:92050": "Congenital tufting enteropathy/Diarrhea 5, with tufting enteropathy, congenital", "OMIM:613217": "Congenital tufting enteropathy/Diarrhea 5, with tufting enteropathy, congenital", "ORPHA:921": "Abruzzo-Erickson syndrome/Charge-Like syndrome, X-linked", "OMIM:302905": "Abruzzo-Erickson syndrome/Charge-Like syndrome, X-linked", "ORPHA:922": "Familial nasal acilia", "ORPHA:926": "Acatalasemia/Acatalasemia", "OMIM:614097": "Acatalasemia/Acatalasemia", "CCRD:79": "N-乙酰谷氨酸合成酶缺乏症/N-acetylglutamate synthase deficiency; NAGSD/Hyperammonemia due to N-acetylglutamate synthase deficiency/N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY", "ORPHA:927": "N-乙酰谷氨酸合成酶缺乏症/N-acetylglutamate synthase deficiency; NAGSD/Hyperammonemia due to N-acetylglutamate synthase deficiency/N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY", "OMIM:237310": "N-乙酰谷氨酸合成酶缺乏症/N-acetylglutamate synthase deficiency; NAGSD/Hyperammonemia due to N-acetylglutamate synthase deficiency/N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY", "ORPHA:929": "Achalasia-microcephaly syndrome/Achalasia-Microcephaly syndrome", "OMIM:200450": "Achalasia-microcephaly syndrome/Achalasia-Microcephaly syndrome", "ORPHA:93": "Aspartylglucosaminuria/Aspartylglucosaminuria", "OMIM:208400": "Aspartylglucosaminuria/Aspartylglucosaminuria", "ORPHA:931": "Acheiropodia/Acheiropody acheiropodia acheiropody, Brazilian type", "OMIM:200500": "Acheiropodia/Acheiropody acheiropodia acheiropody, Brazilian type", "ORPHA:93109": "Congenital megacalycosis", "ORPHA:93110": "Posterior urethral valve", "ORPHA:93111": "HNF1B-related autosomal dominant tubulointerstitial kidney disease/Renal cysts and diabetes syndrome", "OMIM:137920": "HNF1B-related autosomal dominant tubulointerstitial kidney disease/Renal cysts and diabetes syndrome", "OMIM:614455": "Charcot-Marie-Tooth disease, dominant intermediate E", "ORPHA:93160": "Hypocalcemic vitamin D-resistant rickets/Rickets, vitamin D-resistant, type IIA", "OMIM:277440": "Hypocalcemic vitamin D-resistant rickets/Rickets, vitamin D-resistant, type IIA", "ORPHA:1551": "Familial benign copper deficiency/Copper deficiency, familial benign", "OMIM:121270": "Familial benign copper deficiency/Copper deficiency, familial benign", "ORPHA:932": "Achondrogenesis", "ORPHA:1552": "Currarino syndrome/Currarino syndrome", "OMIM:176450": "Currarino syndrome/Currarino syndrome", "ORPHA:93256": "Fragile X-associated tremor/ataxia syndrome/Fragile X tremor/ataxia syndrome", "OMIM:300623": "Fragile X-associated tremor/ataxia syndrome/Fragile X tremor/ataxia syndrome", "ORPHA:93258": "Pfeiffer syndrome type 1", "ORPHA:93259": "Pfeiffer syndrome type 2", "ORPHA:100984": "Autosomal dominant spastic paraplegia type 3/Spastic paraplegia 3, autosomal dominant", "OMIM:182600": "Autosomal dominant spastic paraplegia type 3/Spastic paraplegia 3, autosomal dominant", "ORPHA:1553": "Curry-Jones syndrome/Curry-Jones syndrome", "OMIM:601707": "Curry-Jones syndrome/Curry-Jones syndrome", "ORPHA:93260": "Pfeiffer syndrome type 3", "ORPHA:93262": "Crouzon syndrome-acanthosis nigricans syndrome/Crouzon syndrome with acanthosis nigricans", "OMIM:612247": "Crouzon syndrome-acanthosis nigricans syndrome/Crouzon syndrome with acanthosis nigricans", "ORPHA:93267": "Cloverleaf skull-multiple congenital anomalies syndrome", "OMIM:269860": "Short-rib thoracic dysplasia 12", "ORPHA:93271": "Short rib-polydactyly syndrome, Verma-Naumoff type", "ORPHA:93274": "Thanatophoric dysplasia type 2/Thanatophoric dysplasia, type II", "OMIM:187601": "Thanatophoric dysplasia type 2/Thanatophoric dysplasia, type II", "ORPHA:1555": "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome/Beare-Stevenson cutis gyrata syndrome", "OMIM:123790": "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome/Beare-Stevenson cutis gyrata syndrome", "OMIM:604864": "Osteoarthritis with mild chondrodysplasia", "ORPHA:93283": "Spondyloepiphyseal dysplasia, Kimberley type/Spondyloepiphyseal dysplasia, Kimberley type", "OMIM:608361": "Spondyloepiphyseal dysplasia, Kimberley type/Spondyloepiphyseal dysplasia, Kimberley type", "ORPHA:93284": "Spondyloepiphyseal dysplasia tarda", "OMIM:607323": "Duane-Radial ray syndrome", "ORPHA:93296": "Achondrogenesis type 2/Achondrogenesis, type II", "OMIM:200610": "Achondrogenesis type 2/Achondrogenesis, type II", "ORPHA:93298": "Achondrogenesis type 1B/Achondrogenesis, type IB", "OMIM:600972": "Achondrogenesis type 1B/Achondrogenesis, type IB", "ORPHA:93299": "Achondrogenesis type 1A/Achondrogenesis, type IA", "OMIM:200600": "Achondrogenesis type 1A/Achondrogenesis, type IA", "ORPHA:1556": "Cutis marmorata telangiectatica congenita/Cutis marmorata telangiectatica congenita", "OMIM:219250": "Cutis marmorata telangiectatica congenita/Cutis marmorata telangiectatica congenita", "ORPHA:93302": "Brachyolmia, Maroteaux type/Brachyolmia type 2", "OMIM:613678": "Brachyolmia, Maroteaux type/Brachyolmia type 2", "ORPHA:93304": "Autosomal dominant brachyolmia/Brachyolmia type 3", "OMIM:113500": "Autosomal dominant brachyolmia/Brachyolmia type 3", "ORPHA:93307": "Multiple epiphyseal dysplasia type 4/Epiphyseal dysplasia, multiple, 4", "OMIM:226900": "Multiple epiphyseal dysplasia type 4/Epiphyseal dysplasia, multiple, 4", "ORPHA:93308": "Multiple epiphyseal dysplasia type 1/Epiphyseal dysplasia, multiple, 1", "OMIM:132400": "Multiple epiphyseal dysplasia type 1/Epiphyseal dysplasia, multiple, 1", "ORPHA:93311": "Multiple epiphyseal dysplasia type 5/Epiphyseal dysplasia, multiple, 5", "OMIM:607078": "Multiple epiphyseal dysplasia type 5/Epiphyseal dysplasia, multiple, 5", "ORPHA:93314": "Spondylometaphyseal dysplasia, Kozlowski type/Spondylometaphyseal dysplasia, Kozlowski type", "OMIM:184252": "Spondylometaphyseal dysplasia, Kozlowski type/Spondylometaphyseal dysplasia, Kozlowski type", "ORPHA:93315": "Spondylometaphyseal dysplasia, 'corner fracture' type/Spondylometaphyseal dysplasia, corner Fracture type", "OMIM:184255": "Spondylometaphyseal dysplasia, 'corner fracture' type/Spondylometaphyseal dysplasia, corner Fracture type", "ORPHA:93316": "Spondylometaphyseal dysplasia, Schmidt type/Spondylometaphyseal dysplasia, Algerian type", "OMIM:184253": "Spondylometaphyseal dysplasia, Schmidt type/Spondylometaphyseal dysplasia, Algerian type", "ORPHA:93317": "Spondylometaphyseal dysplasia, Sedaghatian type/Spondylometaphyseal dysplasia, Sedaghatian type", "OMIM:250220": "Spondylometaphyseal dysplasia, Sedaghatian type/Spondylometaphyseal dysplasia, Sedaghatian type", "ORPHA:93320": "Ulnar hemimelia", "ORPHA:93321": "Radial hemimelia", "ORPHA:93322": "Tibial hemimelia/Tibial hemimelia", "OMIM:275220": "Tibial hemimelia/Tibial hemimelia", "ORPHA:93323": "Fibular hemimelia", "ORPHA:93324": "Autosomal recessive Kenny-Caffey syndrome/Kenny-caffey syndrome, type 1", "OMIM:244460": "Autosomal recessive Kenny-Caffey syndrome/Kenny-caffey syndrome, type 1", "ORPHA:93325": "Autosomal dominant Kenny-Caffey syndrome/Kenny-caffey syndrome, type 2", "OMIM:127000": "Autosomal dominant Kenny-Caffey syndrome/Kenny-caffey syndrome, type 2", "ORPHA:93328": "Autosomal dominant omodysplasia/Omodysplasia 2", "OMIM:164745": "Autosomal dominant omodysplasia/Omodysplasia 2", "ORPHA:93329": "Autosomal recessive omodysplasia/Omodysplasia 1", "OMIM:258315": "Autosomal recessive omodysplasia/Omodysplasia 1", "ORPHA:93333": "Pelviscapular dysplasia/Cousin syndrome", "OMIM:260660": "Pelviscapular dysplasia/Cousin syndrome", "OMIM:174600": "Polydactyly, preaxial III", "OMIM:174700": "Polydactyly, preaxial IV", "OMIM:174400": "Polydactyly, preaxial I", "ORPHA:93346": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type/Spondyloepimetaphyseal dysplasia, Strudwick type", "OMIM:184250": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type/Spondyloepimetaphyseal dysplasia, Strudwick type", "OMIM:300106": "Spondyloepimetaphyseal dysplasia, X-linked", "ORPHA:93351": "Spondyloepimetaphyseal dysplasia, Irapa type/Spondyloepimetaphyseal dysplasia, Irapa type", "OMIM:271650": "Spondyloepimetaphyseal dysplasia, Irapa type/Spondyloepimetaphyseal dysplasia, Irapa type", "ORPHA:93352": "Spondyloepimetaphyseal dysplasia, Shohat type/Spondyloepimetaphyseal dysplasia, Shohat type", "OMIM:602557": "Spondyloepimetaphyseal dysplasia, Shohat type/Spondyloepimetaphyseal dysplasia, Shohat type", "ORPHA:93356": "Spondyloepimetaphyseal dysplasia, Missouri type/Spondyloepimetaphyseal dysplasia, Missouri type", "OMIM:602111": "Spondyloepimetaphyseal dysplasia, Missouri type/Spondyloepimetaphyseal dysplasia, Missouri type", "ORPHA:93357": "SPONASTRIME dysplasia/Spondyloepimetaphyseal dysplasia, sponastrime type", "OMIM:271510": "SPONASTRIME dysplasia/Spondyloepimetaphyseal dysplasia, sponastrime type", "OMIM:271665": "Spondylometaepiphyseal dysplasia, short Limb-Hand type", "ORPHA:93359": "Spondyloepimetaphyseal dysplasia with joint laxity/Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "OMIM:271640": "Spondyloepimetaphyseal dysplasia with joint laxity/Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "ORPHA:93360": "Spondyloepimetaphyseal dysplasia with multiple dislocations/Spondyloepimetaphyseal dysplasia with joint laxity, type 2", "OMIM:603546": "Spondyloepimetaphyseal dysplasia with multiple dislocations/Spondyloepimetaphyseal dysplasia with joint laxity, type 2", "OMIM:145980": "Hypocalciuric hypercalcemia, familial, type I", "OMIM:112910": "Brachydactyly, type A6", "ORPHA:93383": "Brachydactyly type B/Brachydactyly, type B1", "OMIM:113000": "Brachydactyly type B/Brachydactyly, type B1", "ORPHA:93384": "Brachydactyly type C/Brachydactyly, type C", "OMIM:113100": "Brachydactyly type C/Brachydactyly, type C", "ORPHA:93387": "Brachydactyly type E/Brachydactyly, type E", "OMIM:113300": "Brachydactyly type E/Brachydactyly, type E", "ORPHA:93388": "Brachydactyly type A1/Brachydactyly, type A1", "OMIM:112500": "Brachydactyly type A1/Brachydactyly, type A1", "ORPHA:93394": "Brachydactyly type A4/Brachydactyly, type A4", "OMIM:112800": "Brachydactyly type A4/Brachydactyly, type A4", "ORPHA:93396": "Brachydactyly type A2/Brachydactyly, type A2", "OMIM:112600": "Brachydactyly type A2/Brachydactyly, type A2", "ORPHA:93397": "Brachydactyly type A7", "ORPHA:93402": "Syndactyly type 1/Chromosome 2q35 duplication syndrome", "OMIM:185900": "Syndactyly type 1/Chromosome 2q35 duplication syndrome", "ORPHA:93403": "Syndactyly type 2", "ORPHA:93404": "Syndactyly type 3/Syndactyly, type III", "OMIM:186100": "Syndactyly type 3/Syndactyly, type III", "ORPHA:93405": "Syndactyly type 4/Syndactyly, type IV", "OMIM:186200": "Syndactyly type 4/Syndactyly, type IV", "ORPHA:93406": "Syndactyly type 5/Syndactyly, type V", "OMIM:186300": "Syndactyly type 5/Syndactyly, type V", "ORPHA:93409": "Brachydactyly-syndactyly, Zhao type/Brachydactyly-Syndactyly syndrome", "OMIM:610713": "Brachydactyly-syndactyly, Zhao type/Brachydactyly-Syndactyly syndrome", "ORPHA:93430": "Multiple metaphyseal dysplasia", "ORPHA:100985": "Autosomal dominant spastic paraplegia type 4/Spastic paraplegia 4, autosomal dominant", "OMIM:182601": "Autosomal dominant spastic paraplegia type 4/Spastic paraplegia 4, autosomal dominant", "ORPHA:93473": "Hurler syndrome/Hurler syndrome", "OMIM:607014": "Hurler syndrome/Hurler syndrome", "ORPHA:93474": "Scheie syndrome/Scheie syndrome", "OMIM:607016": "Scheie syndrome/Scheie syndrome", "ORPHA:93476": "Hurler-Scheie syndrome/Hurler-Scheie syndrome", "OMIM:607015": "Hurler-Scheie syndrome/Hurler-Scheie syndrome", "ORPHA:935": "Short-limb skeletal dysplasia with severe combined immunodeficiency/Achondroplasia, so-called, and severe combined immunodeficiency", "OMIM:200900": "Short-limb skeletal dysplasia with severe combined immunodeficiency/Achondroplasia, so-called, and severe combined immunodeficiency", "ORPHA:93552": "Pediatric systemic lupus erythematosus", "ORPHA:156": "Carnitine palmitoyl transferase 1A deficiency/Carnitine palmitoyltransferase I deficiency", "OMIM:255120": "Carnitine palmitoyl transferase 1A deficiency/Carnitine palmitoyltransferase I deficiency", "OMIM:274150": "Thrombotic thrombocytopenic purpura, hereditary", "ORPHA:93598": "Primary hyperoxaluria type 1/Hyperoxaluria, primary, type I", "OMIM:259900": "Primary hyperoxaluria type 1/Hyperoxaluria, primary, type I", "ORPHA:93599": "Primary hyperoxaluria type 2/Hyperoxaluria, primary, type II", "OMIM:260000": "Primary hyperoxaluria type 2/Hyperoxaluria, primary, type II", "ORPHA:93600": "Primary hyperoxaluria type 3/Hyperoxaluria, primary, type III", "OMIM:613616": "Primary hyperoxaluria type 3/Hyperoxaluria, primary, type III", "OMIM:278300": "Xanthinuria, type I", "OMIM:603592": "Xanthinuria, type II", "OMIM:601678": "Bartter syndrome, type 1, antenatal", "OMIM:607364": "Bartter syndrome, type 3", "OMIM:300539": "Nephrogenic syndrome of inappropriate antidiuresis", "OMIM:604278": "Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation", "OMIM:179800": "Renal tubular acidosis, distal, autosomal dominant", "OMIM:611590": "Renal tubular acidosis, distal, with hemolytic anemia", "OMIM:613978": "Hemoglobin H disease", "OMIM:300009": "Dent disease 1", "OMIM:300555": "Dent disease 2", "ORPHA:93672": "Juvenile dermatomyositis", "ORPHA:939": "3-hydroxyisobutyric aciduria/3-hydroxyisobutyric aciduria", "OMIM:236795": "3-hydroxyisobutyric aciduria/3-hydroxyisobutyric aciduria", "OMIM:162091": "Schwannomatosis", "ORPHA:93928": "Isolated epispadias", "ORPHA:93929": "Cloacal exstrophy/OEIS complex", "OMIM:258040": "Cloacal exstrophy/OEIS complex", "ORPHA:93930": "Bladder exstrophy", "ORPHA:93932": "FG syndrome type 1/Opitz-Kaveggia syndrome", "OMIM:305450": "FG syndrome type 1/Opitz-Kaveggia syndrome", "ORPHA:93941": "Laryngotracheoesophageal cleft type 4", "ORPHA:93946": "Hamel cerebro-palato-cardiac syndrome", "ORPHA:93947": "X-linked intellectual disability, Golabi-Ito-Hall type", "ORPHA:93952": "X-linked intellectual disability, Hedera type/Mental retardation, X-linked, syndromic, Hedera type", "OMIM:300423": "X-linked intellectual disability, Hedera type/Mental retardation, X-linked, syndromic, Hedera type", "ORPHA:93958": "Oromandibular dystonia", "ORPHA:94058": "Neovascular glaucoma", "ORPHA:94063": "12q14 microdeletion syndrome", "ORPHA:100986": "Autosomal recessive spastic paraplegia type 5A/Spastic paraplegia 5A, autosomal recessive", "OMIM:270800": "Autosomal recessive spastic paraplegia type 5A/Spastic paraplegia 5A, autosomal recessive", "ORPHA:94064": "Deafness-infertility syndrome/Deafness, sensorineural, and male infertility", "OMIM:611102": "Deafness-infertility syndrome/Deafness, sensorineural, and male infertility", "ORPHA:94065": "15q24 microdeletion syndrome", "ORPHA:94066": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "ORPHA:94068": "Spondyloepiphyseal dysplasia congenita/Spondyloepiphyseal dysplasia congenita", "OMIM:183900": "Spondyloepiphyseal dysplasia congenita/Spondyloepiphyseal dysplasia congenita", "ORPHA:94080": "Non-functioning paraganglioma", "ORPHA:94083": "Partington syndrome/Partington syndrome", "OMIM:309510": "Partington syndrome/Partington syndrome", "ORPHA:94086": "Blue diaper syndrome/Blue diaper syndrome", "OMIM:211000": "Blue diaper syndrome/Blue diaper syndrome", "ORPHA:94088": "Hereditary renal hypouricemia/Hypouricemia, renal, 1", "OMIM:220150": "Hereditary renal hypouricemia/Hypouricemia, renal, 1", "ORPHA:94089": "Pseudohypoparathyroidism type 1B/Pseudohypoparathyroidism, type IB", "OMIM:603233": "Pseudohypoparathyroidism type 1B/Pseudohypoparathyroidism, type IB", "ORPHA:94090": "Pseudohypoparathyroidism type 2/Pseudohypoparathyroidism, type II", "OMIM:203330": "Pseudohypoparathyroidism type 2/Pseudohypoparathyroidism, type II", "ORPHA:94093": "Neuroleptic malignant syndrome", "OMIM:271520": "Spondylocostal dysostosis with anal atresia and urogenital anomalies", "ORPHA:941": "D-glyceric aciduria/D-glyceric aciduria", "OMIM:220120": "D-glyceric aciduria/D-glyceric aciduria", "ORPHA:94122": "Cerebellar ataxia, Cayman type/Cerebellar ataxia, Cayman type", "OMIM:601238": "Cerebellar ataxia, Cayman type/Cerebellar ataxia, Cayman type", "ORPHA:94124": "Spinocerebellar ataxia with axonal neuropathy type 1/Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "OMIM:607250": "Spinocerebellar ataxia with axonal neuropathy type 1/Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "ORPHA:94125": "Recessive mitochondrial ataxia syndrome", "ORPHA:94147": "Spinocerebellar ataxia type 7/Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II", "OMIM:164500": "Spinocerebellar ataxia type 7/Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II", "OMIM:206800": "Anonychia congenita", "OMIM:248360": "Malonyl-CoA decarboxylase deficiency", "ORPHA:945": "Acalvaria", "ORPHA:949": "Acrocraniofacial dysostosis", "ORPHA:95": "Friedreich ataxia/Friedreich ataxia 1", "OMIM:229300": "Friedreich ataxia/Friedreich ataxia 1", "ORPHA:950": "Acrodysostosis", "ORPHA:95159": "Hepatoerythropoietic porphyria", "ORPHA:952": "Acrofacial dysostosis, Weyers type/Weyers acrofacial dysostosis", "OMIM:193530": "Acrofacial dysostosis, Weyers type/Weyers acrofacial dysostosis", "ORPHA:95232": "Lissencephaly due to LIS1 mutation/Lissencephaly 1", "OMIM:607432": "Lissencephaly due to LIS1 mutation/Lissencephaly 1", "ORPHA:95409": "Acute adrenal insufficiency", "ORPHA:95427": "Secondary short bowel syndrome", "ORPHA:95428": "COG8-CDG/Congenital disorder of glycosylation, type IIh", "OMIM:611182": "COG8-CDG/Congenital disorder of glycosylation, type IIh", "ORPHA:95429": "Angioma serpiginosum", "ORPHA:95433": "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome/Spinocerebellar ataxia, autosomal recessive 3", "OMIM:271250": "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome/Spinocerebellar ataxia, autosomal recessive 3", "ORPHA:95434": "Autosomal recessive cerebellar ataxia-movement disorder syndrome/Spinocerebellar ataxia, autosomal recessive 4", "OMIM:607317": "Autosomal recessive cerebellar ataxia-movement disorder syndrome/Spinocerebellar ataxia, autosomal recessive 4", "ORPHA:95455": "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum", "ORPHA:95459": "Congenital tricuspid stenosis", "ORPHA:95494": "Combined pituitary hormone deficiencies, genetic forms/Pituitary hormone deficiency, combined, 1", "OMIM:613038": "Combined pituitary hormone deficiencies, genetic forms/Pituitary hormone deficiency, combined, 1", "ORPHA:95496": "Pituitary stalk interruption syndrome", "ORPHA:955": "Hajdu-Cheney syndrome/Hajdu-Cheney syndrome", "OMIM:102500": "Hajdu-Cheney syndrome/Hajdu-Cheney syndrome", "CCRD:10": "自身免疫性垂体炎/Autoimmune hypophysitis; AH", "ORPHA:95512": "Adenohypophysitis", "ORPHA:95513": "Panhypophysitis", "ORPHA:95613": "Pituitary apoplexy", "ORPHA:95619": "Post-traumatic pituitary deficiency", "ORPHA:95626": "Acquired central diabetes insipidus", "ORPHA:95699": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency/Disordered steroidogenesis due to cytochrome P450 oxidoreductase", "OMIM:613571": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency/Disordered steroidogenesis due to cytochrome P450 oxidoreductase", "ORPHA:957": "Acropectorovertebral dysplasia/ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF", "OMIM:102510": "Acropectorovertebral dysplasia/ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF", "OMIM:202150": "Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone", "OMIM:300200": "Adrenal hypoplasia, congenital", "ORPHA:95707": "Idiopathic isolated micropenis", "ORPHA:95712": "Thyroid ectopia", "ORPHA:95713": "Athyreosis", "ORPHA:95715": "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies", "ORPHA:95716": "Familial thyroid dyshormonogenesis/Thyroid hormonogenesis, genetic defect in, 1", "OMIM:274400": "Familial thyroid dyshormonogenesis/Thyroid hormonogenesis, genetic defect in, 1", "ORPHA:95717": "Idiopathic congenital hypothyroidism", "ORPHA:95719": "Thyroid hemiagenesis", "ORPHA:100988": "Autosomal dominant spastic paraplegia type 6/Spastic paraplegia 6, autosomal dominant", "OMIM:600363": "Autosomal dominant spastic paraplegia type 6/Spastic paraplegia 6, autosomal dominant", "ORPHA:95720": "Thyroid hypoplasia", "ORPHA:958": "Acro-renal-mandibular syndrome/Acrorenal-Mandibular syndrome", "OMIM:200980": "Acro-renal-mandibular syndrome/Acrorenal-Mandibular syndrome", "ORPHA:959": "Acro-renal-ocular syndrome", "ORPHA:96": "Ataxia with vitamin E deficiency/Ataxia with isolated vitamin E deficiency", "OMIM:277460": "Ataxia with vitamin E deficiency/Ataxia with isolated vitamin E deficiency", "ORPHA:96061": "Mosaic trisomy 8", "ORPHA:1562": "Dacryocystitis-osteopoikilosis syndrome/Osteopoikilosis and dacryocystitis", "OMIM:166705": "Dacryocystitis-osteopoikilosis syndrome/Osteopoikilosis and dacryocystitis", "OMIM:613458": "Chromosome 16p13.3 duplication syndrome", "ORPHA:96092": "8p inverted duplication/deletion syndrome", "ORPHA:96097": "Distal trisomy 5q", "ORPHA:96121": "7q11.23 microduplication syndrome/Williams-Beuren region duplication syndrome", "OMIM:609757": "7q11.23 microduplication syndrome/Williams-Beuren region duplication syndrome", "ORPHA:96123": "Monosomy 22", "ORPHA:96125": "Distal monosomy 6p/Chromosome 6pter-p24 deletion syndrome", "OMIM:612582": "Distal monosomy 6p/Chromosome 6pter-p24 deletion syndrome", "ORPHA:96129": "Distal monosomy 19p13.3", "ORPHA:96147": "Kleefstra syndrome due to 9q34 microdeletion", "ORPHA:96148": "Distal monosomy 10q/Chromosome 10q26 deletion syndrome", "OMIM:609625": "Distal monosomy 10q/Chromosome 10q26 deletion syndrome", "ORPHA:96149": "Distal monosomy 12q", "ORPHA:96167": "Recombinant 8 syndrome/Recombinant chromosome 8 syndrome", "OMIM:179613": "Recombinant 8 syndrome/Recombinant chromosome 8 syndrome", "ORPHA:96168": "Monosomy 13q34", "ORPHA:96170": "Emanuel syndrome/Emanuel syndrome", "OMIM:609029": "Emanuel syndrome/Emanuel syndrome", "ORPHA:96176": "Ring chromosome 13 syndrome", "ORPHA:96179": "Maternal uniparental disomy of chromosome 2", "ORPHA:96180": "Maternal uniparental disomy of chromosome 4", "ORPHA:96181": "Maternal uniparental disomy of chromosome 6", "ORPHA:96183": "Maternal uniparental disomy of chromosome 9", "OMIM:617352": "Mulchandani-Bhoj-Conlin syndrome", "ORPHA:96190": "Paternal uniparental disomy of chromosome 5", "ORPHA:96191": "Paternal uniparental disomy of chromosome 6", "ORPHA:96201": "X small rings", "ORPHA:96253": "Cushing disease/Pituitary adenoma 4, ACTH-secreting, somatic", "OMIM:219090": "Cushing disease/Pituitary adenoma 4, ACTH-secreting, somatic", "OMIM:102200": "Pituitary adenoma, growth hormone-secreting, 1", "ORPHA:96263": "48,XXXY syndrome", "ORPHA:96264": "49,XXXXY syndrome", "ORPHA:963": "Acromegaly", "ORPHA:96369": "Early-onset schizophrenia", "OMIM:102150": "Acromegaloid facial appearance syndrome", "ORPHA:968": "Acromesomelic dysplasia, Hunter-Thompson type/Acromesomelic dysplasia, Hunter-Thompson type", "OMIM:201250": "Acromesomelic dysplasia, Hunter-Thompson type/Acromesomelic dysplasia, Hunter-Thompson type", "ORPHA:969": "Acromicric dysplasia/Acromicric dysplasia", "OMIM:102370": "Acromicric dysplasia/Acromicric dysplasia", "ORPHA:97": "Familial paroxysmal ataxia/Episodic ataxia, type 2", "OMIM:108500": "Familial paroxysmal ataxia/Episodic ataxia, type 2", "ORPHA:970": "Hereditary sensory and autonomic neuropathy type 2", "ORPHA:971": "Acrorenal syndrome/Acrorenal syndrome", "OMIM:102520": "Acrorenal syndrome/Acrorenal syndrome", "ORPHA:972": "Hereditary continuous muscle fiber activity", "ORPHA:97214": "Eisenmenger syndrome", "ORPHA:100989": "Autosomal dominant spastic paraplegia type 8/Spastic paraplegia 8, autosomal dominant", "OMIM:603563": "Autosomal dominant spastic paraplegia type 8/Spastic paraplegia 8, autosomal dominant", "ORPHA:97229": "Riboflavin transporter deficiency", "ORPHA:97230": "Solar urticaria", "OMIM:305550": "Fingerprint body myopathy", "OMIM:261670": "Phosphoglycerate mutase, muscle, deficiency of", "OMIM:606072": "Rippling muscle disease", "ORPHA:97240": "Zebra body myopathy", "ORPHA:97244": "Rigid spine syndrome", "OMIM:608027": "Pontocerebellar hypoplasia, type 3", "ORPHA:97261": "GRFoma", "ORPHA:97278": "PPoma", "ORPHA:97279": "Insulinoma", "ORPHA:97280": "Glucagonoma", "ORPHA:97282": "VIPoma", "ORPHA:97283": "Somatostatinoma", "ORPHA:97285": "Thyroid lymphoma", "ORPHA:97286": "Carney-Stratakis syndrome/Carney-Stratakis syndrome", "OMIM:606864": "Carney-Stratakis syndrome/Carney-Stratakis syndrome", "ORPHA:97287": "Bronchial neuroendocrine tumor", "ORPHA:97289": "Thymic neuroendocrine tumor", "ORPHA:97290": "Familial papillary thyroid carcinoma with renal papillary neoplasia", "ORPHA:97297": "Bohring-Opitz syndrome/Bohring-Opitz syndrome", "OMIM:605039": "Bohring-Opitz syndrome/Bohring-Opitz syndrome", "ORPHA:973": "Congenital absence/hypoplasia of fingers excluding thumb, unilateral/Adactylia, unilateral", "OMIM:102650": "Congenital absence/hypoplasia of fingers excluding thumb, unilateral/Adactylia, unilateral", "ORPHA:1563": "Dahlberg-Borer-Newcomer syndrome/Lymphedema-Hypoparathyroidism syndrome", "OMIM:247410": "Dahlberg-Borer-Newcomer syndrome/Lymphedema-Hypoparathyroidism syndrome", "ORPHA:97330": "Thoracic outlet syndrome", "ORPHA:97332": "Kienbock disease", "ORPHA:97335": "Osgood-Schlatter disease", "ORPHA:97336": "Panner disease", "ORPHA:97337": "Sinding-Larsen-Johansson disease", "OMIM:601379": "Hunter-Mcalpine craniosynostosis syndrome", "ORPHA:97341": "Persistent placoid maculopathy", "OMIM:176500": "Cerebral amyloid angiopathy, itm2b-related, 1", "OMIM:117300": "Dementia, familial danish", "ORPHA:97349": "Postencephalitic parkinsonism", "ORPHA:97355": "Caribbean parkinsonism", "ORPHA:1566": "Dandy-Walker malformation-postaxial polydactyly syndrome/Dandy-Walker malformation with postaxial polydactyly", "OMIM:220220": "Dandy-Walker malformation-postaxial polydactyly syndrome/Dandy-Walker malformation with postaxial polydactyly", "OMIM:267430": "Renal tubular dysgenesis", "ORPHA:974": "Adams-Oliver syndrome/Adams-Oliver syndrome 1", "OMIM:100300": "Adams-Oliver syndrome/Adams-Oliver syndrome 1", "OMIM:208530": "Right atrial isomerism (Ivemark)", "ORPHA:976": "Adenine phosphoribosyltransferase deficiency/Adenine phosphoribosyltransferase deficiency", "OMIM:614723": "Adenine phosphoribosyltransferase deficiency/Adenine phosphoribosyltransferase deficiency", "ORPHA:97685": "17q11 microdeletion syndrome/Chromosome 17q11.2 deletion syndrome, 1.4-mb", "OMIM:613675": "17q11 microdeletion syndrome/Chromosome 17q11.2 deletion syndrome, 1.4-mb", "ORPHA:977": "Adrenomyodystrophy", "ORPHA:978": "ADULT syndrome/Adult syndrome", "OMIM:103285": "ADULT syndrome/Adult syndrome", "ORPHA:98": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay/Spastic ataxia, Charlevoix-Saguenay type", "OMIM:270550": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay/Spastic ataxia, Charlevoix-Saguenay type", "ORPHA:98028": "Rare circulatory system disease", "ORPHA:100991": "Autosomal dominant spastic paraplegia type 10/Spastic paraplegia 10, autosomal dominant", "OMIM:604187": "Autosomal dominant spastic paraplegia type 10/Spastic paraplegia 10, autosomal dominant", "ORPHA:981": "Internal carotid absence", "ORPHA:156728": "Spondyloepimetaphyseal dysplasia, matrilin-3 type/Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type", "OMIM:608728": "Spondyloepimetaphyseal dysplasia, matrilin-3 type/Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type", "OMIM:224400": "Dyssegmental dysplasia, Rolland-Desbuquois type", "ORPHA:98292": "Mastocytosis/Mastocytosis, cutaneous", "OMIM:154800": "Mastocytosis/Mastocytosis, cutaneous", "ORPHA:98293": "Hodgkin lymphoma", "ORPHA:983": "Testicular regression syndrome/46, XY sex reversal 11", "OMIM:273250": "Testicular regression syndrome/46, XY sex reversal 11", "ORPHA:1568": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "ORPHA:157": "Carnitine palmitoyltransferase II deficiency", "ORPHA:98375": "Autoimmune hemolytic anemia", "ORPHA:1570": "Symbrachydactyly of hands and feet", "OMIM:277450": "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1", "ORPHA:100993": "Autosomal dominant spastic paraplegia type 12/Spastic paraplegia 12, autosomal dominant", "OMIM:604805": "Autosomal dominant spastic paraplegia type 12/Spastic paraplegia 12, autosomal dominant", "ORPHA:1571": "Knobloch syndrome/Knobloch syndrome, type 1", "OMIM:267750": "Knobloch syndrome/Knobloch syndrome, type 1", "ORPHA:1572": "Common variable immunodeficiency/Immunodeficiency, common variable, 1", "OMIM:607594": "Common variable immunodeficiency/Immunodeficiency, common variable, 1", "ORPHA:157215": "Hereditary hypophosphatemic rickets with hypercalciuria/Hypophosphatemic rickets with hypercalciuria, hereditary", "OMIM:241530": "Hereditary hypophosphatemic rickets with hypercalciuria/Hypophosphatemic rickets with hypercalciuria, hereditary", "ORPHA:1573": "Hypotrichosis with juvenile macular degeneration/Hypotrichosis, congenital, with juvenile macular dystrophy", "OMIM:601553": "Hypotrichosis with juvenile macular degeneration/Hypotrichosis, congenital, with juvenile macular dystrophy", "ORPHA:1574": "Retinal degeneration-nanophthalmos-glaucoma syndrome/Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma", "OMIM:267760": "Retinal degeneration-nanophthalmos-glaucoma syndrome/Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma", "OMIM:165600": "Orbital margin, hypoplasia of", "ORPHA:98673": "Autosomal dominant optic atrophy, classic form/Optic atrophy 1", "OMIM:165500": "Autosomal dominant optic atrophy, classic form/Optic atrophy 1", "ORPHA:100994": "Autosomal dominant spastic paraplegia type 13/Spastic paraplegia 13, autosomal dominant", "OMIM:605280": "Autosomal dominant spastic paraplegia type 13/Spastic paraplegia 13, autosomal dominant", "ORPHA:157794": "Hereditary mixed polyposis syndrome/Polyposis syndrome, hereditary mixed, 1", "OMIM:601228": "Hereditary mixed polyposis syndrome/Polyposis syndrome, hereditary mixed, 1", "ORPHA:157798": "Serrated polyposis syndrome", "ORPHA:98755": "Spinocerebellar ataxia type 1/Spinocerebellar ataxia 1", "OMIM:164400": "Spinocerebellar ataxia type 1/Spinocerebellar ataxia 1", "ORPHA:98756": "Spinocerebellar ataxia type 2/Spinocerebellar ataxia 2", "OMIM:183090": "Spinocerebellar ataxia type 2/Spinocerebellar ataxia 2", "ORPHA:98757": "Spinocerebellar ataxia type 3/Machado-Joseph disease", "OMIM:109150": "Spinocerebellar ataxia type 3/Machado-Joseph disease", "ORPHA:98758": "Spinocerebellar ataxia type 6/Spinocerebellar ataxia 6", "OMIM:183086": "Spinocerebellar ataxia type 6/Spinocerebellar ataxia 6", "ORPHA:98759": "Spinocerebellar ataxia type 17/Spinocerebellar ataxia 17", "OMIM:607136": "Spinocerebellar ataxia type 17/Spinocerebellar ataxia 17", "ORPHA:98760": "Spinocerebellar ataxia type 8/Spinocerebellar ataxia 8", "OMIM:608768": "Spinocerebellar ataxia type 8/Spinocerebellar ataxia 8", "ORPHA:98761": "Spinocerebellar ataxia type 10/Spinocerebellar ataxia 10", "OMIM:603516": "Spinocerebellar ataxia type 10/Spinocerebellar ataxia 10", "ORPHA:98762": "Spinocerebellar ataxia type 12/Spinocerebellar ataxia 12", "OMIM:604326": "Spinocerebellar ataxia type 12/Spinocerebellar ataxia 12", "ORPHA:98763": "Spinocerebellar ataxia type 14/Spinocerebellar ataxia 14", "OMIM:605361": "Spinocerebellar ataxia type 14/Spinocerebellar ataxia 14", "ORPHA:98764": "Spinocerebellar ataxia type 27", "ORPHA:1578": "Pterin-4 alpha-carbinolamine dehydratase deficiency/Hyperphenylalaninemia, BH4-deficient, D", "OMIM:264070": "Pterin-4 alpha-carbinolamine dehydratase deficiency/Hyperphenylalaninemia, BH4-deficient, D", "ORPHA:98765": "Spinocerebellar ataxia type 4/Spinocerebellar ataxia 4", "OMIM:600223": "Spinocerebellar ataxia type 4/Spinocerebellar ataxia 4", "ORPHA:98766": "Spinocerebellar ataxia type 5/Spinocerebellar ataxia 5", "OMIM:600224": "Spinocerebellar ataxia type 5/Spinocerebellar ataxia 5", "ORPHA:98767": "Spinocerebellar ataxia type 11/Spinocerebellar ataxia 11", "OMIM:604432": "Spinocerebellar ataxia type 11/Spinocerebellar ataxia 11", "ORPHA:98768": "Spinocerebellar ataxia type 13/Spinocerebellar ataxia 13", "OMIM:605259": "Spinocerebellar ataxia type 13/Spinocerebellar ataxia 13", "ORPHA:98769": "Spinocerebellar ataxia type 15/16/Spinocerebellar ataxia 15", "OMIM:606658": "Spinocerebellar ataxia type 15/16/Spinocerebellar ataxia 15", "ORPHA:98771": "Spinocerebellar ataxia type 18/Spinocerebellar ataxia 18", "OMIM:607458": "Spinocerebellar ataxia type 18/Spinocerebellar ataxia 18", "ORPHA:98772": "Spinocerebellar ataxia type 19/22/Spinocerebellar ataxia 19", "OMIM:607346": "Spinocerebellar ataxia type 19/22/Spinocerebellar ataxia 19", "ORPHA:98773": "Spinocerebellar ataxia type 21/Spinocerebellar ataxia 21", "OMIM:607454": "Spinocerebellar ataxia type 21/Spinocerebellar ataxia 21", "ORPHA:98791": "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "ORPHA:157801": "Mesoaxial synostotic syndactyly with phalangeal reduction/Syndactyly, mesoaxial synostotic, with phalangeal reduction", "OMIM:609432": "Mesoaxial synostotic syndactyly with phalangeal reduction/Syndactyly, mesoaxial synostotic, with phalangeal reduction", "ORPHA:98797": "Isochromosomy Yp", "ORPHA:98798": "Isochromosomy Yq", "ORPHA:988": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome", "ORPHA:98805": "Primary dystonia, DYT4 type/Dystonia 4, torsion, autosomal dominant", "OMIM:128101": "Primary dystonia, DYT4 type/Dystonia 4, torsion, autosomal dominant", "ORPHA:98806": "Primary dystonia, DYT6 type/Dystonia 6, torsion", "OMIM:602629": "Primary dystonia, DYT6 type/Dystonia 6, torsion", "ORPHA:98807": "Primary dystonia, DYT13 type/Dystonia 13, torsion", "OMIM:607671": "Primary dystonia, DYT13 type/Dystonia 13, torsion", "ORPHA:98808": "Autosomal dominant dopa-responsive dystonia/Dystonia, DOPA-responsive, with or without hyperphenylalaninemia", "OMIM:128230": "Autosomal dominant dopa-responsive dystonia/Dystonia, DOPA-responsive, with or without hyperphenylalaninemia", "ORPHA:98809": "Paroxysmal kinesigenic dyskinesia/Episodic kinesigenic dyskinesia 1", "OMIM:128200": "Paroxysmal kinesigenic dyskinesia/Episodic kinesigenic dyskinesia 1", "ORPHA:98810": "Paroxysmal non-kinesigenic dyskinesia/Paroxysmal nonkinesigenic dyskinesia 1", "OMIM:118800": "Paroxysmal non-kinesigenic dyskinesia/Paroxysmal nonkinesigenic dyskinesia 1", "ORPHA:98811": "Paroxysmal exertion-induced dyskinesia/Glut1 deficiency syndrome 2", "OMIM:612126": "Paroxysmal exertion-induced dyskinesia/Glut1 deficiency syndrome 2", "OMIM:300291": "Ectodermal dysplasia and immunodeficiency 1", "OMIM:608096": "Epilepsy, familial temporal lobe, 2", "OMIM:272430": "Crisponi/cold-induced sweating syndrome 1", "ORPHA:98826": "Refractory anemia", "ORPHA:98827": "Unclassified myelodysplastic syndrome", "ORPHA:98848": "Indolent systemic mastocytosis", "ORPHA:98849": "Systemic mastocytosis with associated hematologic neoplasm", "ORPHA:98850": "Aggressive systemic mastocytosis", "ORPHA:98853": "Autosomal dominant Emery-Dreifuss muscular dystrophy", "ORPHA:98855": "Autosomal recessive Emery-Dreifuss muscular dystrophy", "ORPHA:98856": "Charcot-Marie-Tooth disease type 2B1/Charcot-Marie-Tooth disease, axonal, type 2B1", "OMIM:605588": "Charcot-Marie-Tooth disease type 2B1/Charcot-Marie-Tooth disease, axonal, type 2B1", "ORPHA:98863": "X-linked Emery-Dreifuss muscular dystrophy/Emery-Dreifuss muscular dystrophy 1, X-linked", "OMIM:310300": "X-linked Emery-Dreifuss muscular dystrophy/Emery-Dreifuss muscular dystrophy 1, X-linked", "OMIM:166900": "Ovalocytosis, hereditary hemolytic", "OMIM:224120": "Anemia, congenital dyserythropoietic, type Ia", "ORPHA:98870": "Congenital dyserythropoietic anemia type III/Anemia, dyserythropoietic congenital, type III", "OMIM:105600": "Congenital dyserythropoietic anemia type III/Anemia, dyserythropoietic congenital, type III", "OMIM:227050": "Transient erythroblastopenia of childhood", "OMIM:224100": "Anemia, dyserythropoietic congenital, type II", "ORPHA:98878": "Hemophilia A/Hemophilia A", "OMIM:306700": "Hemophilia A/Hemophilia A", "ORPHA:98879": "Hemophilia B/Hemophilia B", "OMIM:306900": "Hemophilia B/Hemophilia B", "ORPHA:98880": "Familial afibrinogenemia/Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included", "OMIM:202400": "Familial afibrinogenemia/Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included", "ORPHA:98881": "Familial dysfibrinogenemia", "OMIM:614201": "Bleeding disorder, platelet-type, 11", "OMIM:614200": "Bleeding disorder, platelet-type, 9", "ORPHA:100995": "Autosomal recessive spastic paraplegia type 14/Spastic paraplegia 14, autosomal recessive", "OMIM:605229": "Autosomal recessive spastic paraplegia type 14/Spastic paraplegia 14, autosomal recessive", "ORPHA:157835": "Paroxysmal hemicrania", "ORPHA:98890": "Early-onset X-linked optic atrophy/Optic atrophy 2", "OMIM:311050": "Early-onset X-linked optic atrophy/Optic atrophy 2", "ORPHA:98892": "Periventricular nodular heterotopia", "OMIM:604801": "Muscular dystrophy, congenital, 1B", "ORPHA:98895": "Becker muscular dystrophy/Muscular dystrophy, Becker type", "OMIM:300376": "Becker muscular dystrophy/Muscular dystrophy, Becker type", "ORPHA:98896": "Duchenne muscular dystrophy/Duchenne muscular dystrophy", "OMIM:310200": "Duchenne muscular dystrophy/Duchenne muscular dystrophy", "ORPHA:98897": "Oculopharyngodistal myopathy/Oculopharyngodistal myopathy 1", "OMIM:164310": "Oculopharyngodistal myopathy/Oculopharyngodistal myopathy 1", "ORPHA:989": "Hypoglossia-hypodactyly syndrome/HYPOGLOSSIA-HYPODACTYLIA", "OMIM:103300": "Hypoglossia-hypodactyly syndrome/HYPOGLOSSIA-HYPODACTYLIA", "ORPHA:98902": "Amish nemaline myopathy/Nemaline myopathy 5, Amish type", "OMIM:605355": "Amish nemaline myopathy/Nemaline myopathy 5, Amish type", "ORPHA:98905": "Congenital multicore myopathy with external ophthalmoplegia/Minicore myopathy with external ophthalmoplegia", "OMIM:255320": "Congenital multicore myopathy with external ophthalmoplegia/Minicore myopathy with external ophthalmoplegia", "ORPHA:98907": "Neutral lipid storage disease with ichthyosis/Chanarin-Dorfman syndrome", "OMIM:275630": "Neutral lipid storage disease with ichthyosis/Chanarin-Dorfman syndrome", "ORPHA:98908": "Neutral lipid storage myopathy/Neutral lipid storage disease with myopathy", "OMIM:610717": "Neutral lipid storage myopathy/Neutral lipid storage disease with myopathy", "ORPHA:98909": "Desminopathy/Myopathy, myofibrillar, 1", "OMIM:601419": "Desminopathy/Myopathy, myofibrillar, 1", "ORPHA:98911": "Distal myotilinopathy/MYOTILINOPATHY", "OMIM:609200": "Distal myotilinopathy/MYOTILINOPATHY", "ORPHA:98912": "Late-onset distal myopathy, Markesbery-Griggs type/Myopathy, myofibrillar, 4", "OMIM:609452": "Late-onset distal myopathy, Markesbery-Griggs type/Myopathy, myofibrillar, 4", "ORPHA:98913": "Postsynaptic congenital myasthenic syndromes", "ORPHA:98914": "Presynaptic congenital myasthenic syndromes/Myasthenic syndrome, congenital, 24, presynaptic", "OMIM:618198": "Presynaptic congenital myasthenic syndromes/Myasthenic syndrome, congenital, 24, presynaptic", "ORPHA:98915": "Synaptic congenital myasthenic syndromes", "ORPHA:157846": "Neuroferritinopathy/Neurodegeneration with brain iron accumulation 3", "OMIM:606159": "Neuroferritinopathy/Neurodegeneration with brain iron accumulation 3", "ORPHA:98916": "Acute inflammatory demyelinating polyradiculoneuropathy", "OMIM:604320": "Spinal muscular atrophy, distal, autosomal recessive, 1", "ORPHA:98933": "Multiple system atrophy, parkinsonian type", "ORPHA:98934": "Huntington disease-like 2/Huntington disease-like 2", "OMIM:606438": "Huntington disease-like 2/Huntington disease-like 2", "ORPHA:157850": "Pantothenate kinase-associated neurodegeneration/Neurodegeneration with brain iron accumulation 1", "OMIM:234200": "Pantothenate kinase-associated neurodegeneration/Neurodegeneration with brain iron accumulation 1", "OMIM:122100": "Meesmann corneal dystrophy 1", "ORPHA:157941": "Huntington disease-like 1/Huntington disease-like 1", "OMIM:603218": "Huntington disease-like 1/Huntington disease-like 1", "OMIM:300778": "Corneal dystrophy, lisch epithelial", "OMIM:121820": "Corneal dystrophy, epithelial basement membrane", "OMIM:204870": "Corneal dystrophy, gelatinous drop-like", "ORPHA:98960": "Thiel-Behnke corneal dystrophy/Corneal dystrophy of bowman layer, type II", "OMIM:602082": "Thiel-Behnke corneal dystrophy/Corneal dystrophy of bowman layer, type II", "OMIM:608470": "Corneal dystrophy, Reis-Bucklers type", "ORPHA:98962": "Granular corneal dystrophy type I/Groenouw type I corneal dystrophy", "OMIM:121900": "Granular corneal dystrophy type I/Groenouw type I corneal dystrophy", "ORPHA:98963": "Granular corneal dystrophy type II/Corneal dystrophy, Avellino type", "OMIM:607541": "Granular corneal dystrophy type II/Corneal dystrophy, Avellino type", "ORPHA:98964": "Lattice corneal dystrophy type I/Corneal dystrophy, lattice type I", "OMIM:122200": "Lattice corneal dystrophy type I/Corneal dystrophy, lattice type I", "ORPHA:157946": "Huntington disease-like 3/Huntington disease-like 3", "OMIM:604802": "Huntington disease-like 3/Huntington disease-like 3", "OMIM:121800": "Corneal dystrophy, crystalline, of schnyder", "ORPHA:98969": "Macular corneal dystrophy/Macular dystrophy, corneal, 1", "OMIM:217800": "Macular corneal dystrophy/Macular dystrophy, corneal, 1", "OMIM:121850": "Corneal fleck dystrophy", "OMIM:612868": "Corneal dystrophy, posterior amorphous", "OMIM:217600": "Corneal dystrophy, Central type", "ORPHA:98973": "Posterior polymorphous corneal dystrophy/Corneal dystrophy, posterior polymorphous, 1", "OMIM:122000": "Posterior polymorphous corneal dystrophy/Corneal dystrophy, posterior polymorphous, 1", "ORPHA:98976": "Congenital glaucoma/Glaucoma 3, primary congenital, A", "OMIM:231300": "Congenital glaucoma/Glaucoma 3, primary congenital, A", "ORPHA:98977": "Juvenile glaucoma", "OMIM:233650": "Combined cellular and humoral immune defects with granulomas", "ORPHA:157954": "ANE syndrome/Alopecia, neurologic defects, and endocrinopathy syndrome", "OMIM:612079": "ANE syndrome/Alopecia, neurologic defects, and endocrinopathy syndrome", "ORPHA:99": "Autosomal dominant cerebellar ataxia", "ORPHA:990": "Agnathia-holoprosencephaly-situs inversus syndrome/Agnathia-Otocephaly complex", "OMIM:202650": "Agnathia-holoprosencephaly-situs inversus syndrome/Agnathia-Otocephaly complex", "ORPHA:99000": "Adult-onset foveomacular vitelliform dystrophy/Macular dystrophy, vitelliform, 3", "OMIM:608161": "Adult-onset foveomacular vitelliform dystrophy/Macular dystrophy, vitelliform, 3", "OMIM:612109": "Oculoauricular syndrome", "ORPHA:99013": "Spastic paraplegia type 7/Spastic paraplegia 7, autosomal recessive", "OMIM:607259": "Spastic paraplegia type 7/Spastic paraplegia 7, autosomal recessive", "ORPHA:99014": "X-linked Charcot-Marie-Tooth disease type 5/Charcot-Marie-Tooth disease, X-linked recessive, 5", "OMIM:311070": "X-linked Charcot-Marie-Tooth disease type 5/Charcot-Marie-Tooth disease, X-linked recessive, 5", "ORPHA:99015": "Spastic paraplegia type 2/Spastic paraplegia 2, X-linked", "OMIM:312920": "Spastic paraplegia type 2/Spastic paraplegia 2, X-linked", "ORPHA:99027": "Adult-onset autosomal dominant leukodystrophy/Leukodystrophy, adult-onset, autosomal dominant", "OMIM:169500": "Adult-onset autosomal dominant leukodystrophy/Leukodystrophy, adult-onset, autosomal dominant", "ORPHA:157965": "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 3", "OMIM:612350": "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome/Ehlers-Danlos syndrome, spondylodysplastic type, 3", "ORPHA:100008": "ACys amyloidosis/Amyloidosis VI", "OMIM:105150": "ACys amyloidosis/Amyloidosis VI", "ORPHA:100996": "Autosomal recessive spastic paraplegia type 15/Spastic paraplegia 15, autosomal recessive", "OMIM:270700": "Autosomal recessive spastic paraplegia type 15/Spastic paraplegia 15, autosomal recessive", "ORPHA:157973": "Congenital muscular dystrophy due to LMNA mutation/LMNA-related congenital muscular dystrophy", "OMIM:613205": "Congenital muscular dystrophy due to LMNA mutation/LMNA-related congenital muscular dystrophy", "ORPHA:157991": "Generalized eruptive histiocytosis", "OMIM:105805": "Aneurysm of interventricular septum", "ORPHA:157997": "Benign cephalic histiocytosis", "ORPHA:991": "PAGOD syndrome", "CCRD:15": "原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary", "ORPHA:158": "原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary", "OMIM:212140": "原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary", "ORPHA:1580": "Distal monosomy 10p", "ORPHA:99125": "Congenital total pulmonary venous return anomaly/Total anomalous pulmonary venous return 1", "OMIM:106700": "Congenital total pulmonary venous return anomaly/Total anomalous pulmonary venous return 1", "ORPHA:158000": "Juvenile xanthogranuloma", "OMIM:613611": "Choanal atresia and lymphedema", "ORPHA:99147": "Acquired von Willebrand syndrome", "OMIM:126300": "DISTICHIASIS", "ORPHA:99226": "Monosomy X", "ORPHA:158003": "Xanthoma disseminatum", "ORPHA:99228": "Mosaic monosomy X", "ORPHA:99329": "48,XYYY syndrome", "ORPHA:99330": "49,XYYYY syndrome", "OMIM:155240": "Thyroid carcinoma, familial medullary", "ORPHA:994": "Fetal akinesia deformation sequence/Fetal akinesia deformation sequence", "OMIM:208150": "Fetal akinesia deformation sequence/Fetal akinesia deformation sequence", "ORPHA:99413": "Turner syndrome due to structural X chromosome anomalies", "ORPHA:99429": "Complete androgen insensitivity syndrome/Androgen insensitivity syndrome", "OMIM:300068": "Complete androgen insensitivity syndrome/Androgen insensitivity syndrome", "ORPHA:158008": "Papular xanthoma", "ORPHA:99657": "Primary dystonia, DYT2 type/Dystonia 2, torsion, autosomal recessive", "OMIM:224500": "Primary dystonia, DYT2 type/Dystonia 2, torsion, autosomal recessive", "OMIM:602401": "Ectodermal dysplasia 8, Hair/tooth/nail type", "ORPHA:99688": "Dermotrichic syndrome", "ORPHA:99725": "Pituitary gigantism", "OMIM:272300": "SULFOCYSTEINURIA", "ORPHA:99734": "Myotonia fluctuans", "ORPHA:99735": "Myotonia permanens", "ORPHA:99736": "Acetazolamide-responsive myotonia", "ORPHA:99742": "Amish lethal microcephaly/Microcephaly, Amish type", "OMIM:607196": "Amish lethal microcephaly/Microcephaly, Amish type", "ORPHA:99745": "Typhoid", "ORPHA:99748": "Pontiac fever", "OMIM:610738": "Neutropenia, severe congenital 3, autosomal recessive", "ORPHA:100997": "X-linked spastic paraplegia type 16/Spastic paraplegia 16, X-linked", "OMIM:300266": "X-linked spastic paraplegia type 16/Spastic paraplegia 16, X-linked", "ORPHA:158014": "Rosaï-Dorfman disease", "ORPHA:99750": "Atypical progressive supranuclear palsy syndrome", "OMIM:268220": "Rhabdomyosarcoma 2, alveolar", "OMIM:268210": "Rhabdomyosarcoma 1", "ORPHA:99771": "Bifid uvula", "ORPHA:99772": "Cleft velum", "ORPHA:99776": "Mosaic trisomy 9", "OMIM:125420": "Dentin dysplasia, type II", "OMIM:125440": "Dentin dysplasia with sclerotic bones", "OMIM:206780": "Anodontia of permanent dentition", "ORPHA:99798": "Oligodontia", "ORPHA:998": "Albinism-deafness syndrome/Albinism-Deafness syndrome", "OMIM:300700": "Albinism-deafness syndrome/Albinism-Deafness syndrome", "ORPHA:99803": "Haddad syndrome", "OMIM:617507": "Peho-Like syndrome", "ORPHA:99811": "Neuronal intestinal pseudoobstruction/Natal teeth - intestinal pseudoobstruction - patent ductus", "OMIM:243185": "Neuronal intestinal pseudoobstruction/Natal teeth - intestinal pseudoobstruction - patent ductus", "ORPHA:99812": "LIG4 syndrome/LIG4 syndrome", "OMIM:606593": "LIG4 syndrome/LIG4 syndrome", "ORPHA:158022": "Progressive nodular histiocytosis", "ORPHA:99818": "Turcot syndrome with polyposis", "ORPHA:99819": "Familial gestational hyperthyroidism/Hyperthyroidism, familial gestational", "OMIM:603373": "Familial gestational hyperthyroidism/Hyperthyroidism, familial gestational", "ORPHA:99824": "Lassa fever", "ORPHA:99825": "Nipah virus disease", "ORPHA:99826": "Marburg hemorrhagic fever", "ORPHA:99827": "Crimean-Congo hemorrhagic fever", "ORPHA:99828": "Dengue fever", "ORPHA:99829": "Yellow fever", "ORPHA:99832": "Resistance to thyrotropin-releasing hormone syndrome", "OMIM:116920": "Leukocyte adhesion deficiency, type I", "ORPHA:158025": "Hereditary progressive mucinous histiocytosis/Histiocytosis, progressive mucinous", "OMIM:142630": "Hereditary progressive mucinous histiocytosis/Histiocytosis, progressive mucinous", "ORPHA:99843": "Leukocyte adhesion deficiency type II/Congenital disorder of glycosylation, type IIc", "OMIM:266265": "Leukocyte adhesion deficiency type II/Congenital disorder of glycosylation, type IIc", "OMIM:612840": "Leukocyte adhesion deficiency, type III", "OMIM:160010": "Myoglobinuria, autosomal dominant", "OMIM:612932": "Glycogen storage disease XIII", "ORPHA:99852": "Ravine syndrome", "ORPHA:99857": "Secondary syringomyelia", "ORPHA:158029": "Sea-blue histiocytosis/Sea-Blue histiocyte disease", "OMIM:269600": "Sea-blue histiocytosis/Sea-Blue histiocyte disease", "ORPHA:99867": "Thymoma", "ORPHA:99868": "Thymic carcinoma", "ORPHA:99879": "Familial isolated hyperparathyroidism", "ORPHA:99880": "Hyperparathyroidism-jaw tumor syndrome", "ORPHA:99885": "Isolated permanent neonatal diabetes mellitus/Diabetes mellitus, permanent neonatal 1", "OMIM:606176": "Isolated permanent neonatal diabetes mellitus/Diabetes mellitus, permanent neonatal 1", "ORPHA:99886": "Transient neonatal diabetes mellitus/Diabetes mellitus, transient neonatal, 1", "OMIM:601410": "Transient neonatal diabetes mellitus/Diabetes mellitus, transient neonatal, 1", "ORPHA:99889": "Cushing syndrome due to ectopic ACTH secretion", "ORPHA:999": "Ermine phenotype/Ermine phenotype", "OMIM:227010": "Ermine phenotype/Ermine phenotype", "ORPHA:99901": "Acyl-CoA dehydrogenase 9 deficiency/Mitochondrial complex I deficiency, nuclear type 20", "OMIM:611126": "Acyl-CoA dehydrogenase 9 deficiency/Mitochondrial complex I deficiency, nuclear type 20", "ORPHA:99921": "Chronic graft versus host disease", "ORPHA:99925": "Invasive mole", "ORPHA:99926": "Gestational choriocarcinoma", "ORPHA:99927": "Hydatidiform mole", "ORPHA:99928": "Placental site trophoblastic tumor", "ORPHA:99931": "Idiopathic pulmonary hemosiderosis/Pulmonary hemosiderosis", "OMIM:178550": "Idiopathic pulmonary hemosiderosis/Pulmonary hemosiderosis", "OMIM:600882": "Charcot-Marie-Tooth disease, axonal, type 2B", "OMIM:606071": "Hereditary motor and sensory neuropathy, type IIC", "OMIM:601472": "Charcot-Marie-Tooth disease, axonal, type 2D", "ORPHA:99939": "Autosomal dominant Charcot-Marie-Tooth disease type 2E/Charcot-Marie-Tooth disease, axonal, type 2E", "OMIM:607684": "Autosomal dominant Charcot-Marie-Tooth disease type 2E/Charcot-Marie-Tooth disease, axonal, type 2E", "ORPHA:99940": "Autosomal dominant Charcot-Marie-Tooth disease type 2F/Charcot-Marie-Tooth disease, axonal, type 2F", "OMIM:606595": "Autosomal dominant Charcot-Marie-Tooth disease type 2F/Charcot-Marie-Tooth disease, axonal, type 2F", "OMIM:607677": "Charcot-Marie-Tooth disease, axonal, type 2I", "OMIM:607736": "Charcot-Marie-Tooth disease, type 2J", "ORPHA:99944": "Autosomal dominant Charcot-Marie-Tooth disease type 2K", "OMIM:608673": "Charcot-Marie-Tooth disease, axonal, type 2L", "OMIM:118210": "Charcot-Marie-Tooth disease, axonal, type 2A1", "ORPHA:99947": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2/Charcot-marie-tooth disease, axonal, type 2A2A", "OMIM:609260": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2/Charcot-marie-tooth disease, axonal, type 2A2A", "ORPHA:100998": "Autosomal dominant spastic paraplegia type 17/Spastic paraplegia 17", "OMIM:270685": "Autosomal dominant spastic paraplegia type 17/Spastic paraplegia 17", "ORPHA:99948": "Charcot-Marie-Tooth disease type 4A/Charcot-Marie-Tooth disease, type 4A", "OMIM:214400": "Charcot-Marie-Tooth disease type 4A/Charcot-Marie-Tooth disease, type 4A", "ORPHA:99949": "Charcot-Marie-Tooth disease type 4C/Charcot-Marie-Tooth disease, type 4C", "OMIM:601596": "Charcot-Marie-Tooth disease type 4C/Charcot-Marie-Tooth disease, type 4C", "ORPHA:99950": "Charcot-Marie-Tooth disease type 4D/Charcot-Marie-Tooth disease, type 4D", "OMIM:601455": "Charcot-Marie-Tooth disease type 4D/Charcot-Marie-Tooth disease, type 4D", "OMIM:605253": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "OMIM:614895": "Charcot-Marie-Tooth disease, demyelinating, type 4F", "ORPHA:99953": "Charcot-Marie-Tooth disease type 4G/Neuropathy, hereditary motor and sensory, Russe type", "OMIM:605285": "Charcot-Marie-Tooth disease type 4G/Neuropathy, hereditary motor and sensory, Russe type", "OMIM:609311": "Charcot-marie-tooth disease, type 4H", "OMIM:601382": "Charcot-Marie-Tooth disease, type 4B1", "ORPHA:99956": "Charcot-Marie-Tooth disease type 4B2/Charcot-Marie-Tooth disease, type 4B2", "OMIM:604563": "Charcot-Marie-Tooth disease type 4B2/Charcot-Marie-Tooth disease, type 4B2", "OMIM:243300": "Cholestasis, benign recurrent intrahepatic 1", "ORPHA:1581": "Non-distal monosomy 10q", "OMIM:605479": "Cholestasis, benign recurrent intrahepatic, 2", "ORPHA:99965": "O'Sullivan-McLeod syndrome", "ORPHA:99966": "Atypical teratoid rhabdoid tumor", "ORPHA:99967": "Myxoid/round cell liposarcoma", "ORPHA:99969": "Pleomorphic liposarcoma", "ORPHA:99971": "Well-differentiated liposarcoma", "ORPHA:99976": "Adenocarcinoma of the esophagus", "ORPHA:99977": "Squamous cell carcinoma of the esophagus", "ORPHA:99978": "Klatskin tumor", "OMIM:605714": "Cerebral amyloid angiopathy, APP-related", "OMIM:616221": "Amelogenesis imperfecta, type IH", "OMIM:617297": "Amelogenesis imperfecta, type IJ", "OMIM:204650": "Amelogenesis imperfecta, type IC", "OMIM:301201": "Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2", "OMIM:104500": "Amelogenesis imperfecta, type IB", "OMIM:616270": "Amelogenesis imperfecta, type IF", "OMIM:104530": "Amelogenesis imperfecta, type IA", "OMIM:617607": "Amelogenesis imperfecta, type IIIB", "OMIM:613211": "Amelogenesis imperfecta, hypomaturation type, iia3", "OMIM:617217": "Amelogenesis imperfecta, hypomaturation type, IIA6", "OMIM:301200": "Amelogenesis imperfecta, type IE", "OMIM:204700": "Amelogenesis imperfecta, hypomaturation type, iia1", "OMIM:612529": "Amelogenesis imperfecta, hypomaturation type, iia2", "OMIM:615887": "Amelogenesis imperfecta, type IIA5", "OMIM:614832": "Amelogenesis imperfecta, hypomaturation type, iia4", "OMIM:300909": "Acquired angioedema", "OMIM:172700": "Pick disease of brain", "OMIM:607485": "Frontotemporal lobar degeneration with TDP43 inclusions", "OMIM:242300": "Ichthyosis, congenital, autosomal recessive 1", "OMIM:611819": "Long QT syndrome 10", "OMIM:613688": "Long QT syndrome 2", "OMIM:613485": "Long QT syndrome 13", "OMIM:616247": "Long QT syndrome 14", "OMIM:611820": "Long QT syndrome 11", "OMIM:613695": "Long QT syndrome 5", "OMIM:611818": "Long QT syndrome 9", "OMIM:613693": "Long QT syndrome 6", "OMIM:616249": "Long QT syndrome 15", "OMIM:603830": "Long QT syndrome 3", "OMIM:600919": "Cardiac arrhythmia, ankyrin-B-related", "OMIM:612955": "Long QT syndrome 12", "OMIM:616436": "Epilepsy, familial temporal lobe, 7", "OMIM:616461": "Epilepsy, familial temporal lobe, 8", "OMIM:607734": "Charcot-Marie-Tooth disease, demyelinating, type 1F", "OMIM:607706": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive", "OMIM:607831": "Charcot-Marie-Tooth disease, axonal, type 2K", "OMIM:150700": "Leiomyoma of vulva and esophagus", "OMIM:104300": "Alzheimer disease", "OMIM:605055": "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology", "ORPHA:158668": "Ectodermal dysplasia-skin fragility syndrome/Ectodermal dysplasia/skin fragility syndrome", "OMIM:604536": "Ectodermal dysplasia-skin fragility syndrome/Ectodermal dysplasia/skin fragility syndrome", "OMIM:602096": "Alzheimer disease 5", "OMIM:609636": "Alzheimer disease 10", "OMIM:607822": "Alzheimer disease 3", "OMIM:606889": "Alzheimer disease 4", "ORPHA:158673": "Localized dystrophic epidermolysis bullosa, acral form", "OMIM:104310": "Alzheimer disease 2", "OMIM:616868": "Diarrhea 8, secretory sodium, congenital", "OMIM:270420": "Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies", "OMIM:308905": "Leber optic atrophy, susceptibility to", "OMIM:613073": "Metaphyseal anadysplasia 2", "OMIM:617598": "Mosaic variegated aneuploidy syndrome 3", "OMIM:614114": "Mosaic variegated aneuploidy syndrome 2", "OMIM:618196": "Capillary malformation-arteriovenous malformation 2", "OMIM:610896": "Branchiootorenal syndrome 2", "OMIM:614019": "Lissencephaly 4", "ORPHA:158676": "Localized dystrophic epidermolysis bullosa, nails only", "OMIM:616212": "Lissencephaly 6, with microcephaly", "OMIM:615984": "Bardet-Biedl syndrome 7", "OMIM:615987": "Bardet-Biedl syndrome 10", "OMIM:615996": "Bardet-Biedl syndrome 19", "OMIM:615986": "Bardet-Biedl syndrome 9", "OMIM:615988": "Bardet-Biedl syndrome 11", "OMIM:615995": "Bardet-Biedl syndrome 18", "OMIM:615985": "Bardet-Biedl syndrome 8", "OMIM:615983": "Bardet-Biedl syndrome 5", "OMIM:615982": "Bardet-Biedl syndrome 4", "ORPHA:100999": "Autosomal dominant spastic paraplegia type 19/Spastic paraplegia 19, autosomal dominant", "OMIM:607152": "Autosomal dominant spastic paraplegia type 19/Spastic paraplegia 19, autosomal dominant", "ORPHA:158681": "Epidermolysis bullosa simplex with circinate migratory erythema/Epidermolysis bullosa simplex 2E, with migratory circinate erythema", "OMIM:609352": "Epidermolysis bullosa simplex with circinate migratory erythema/Epidermolysis bullosa simplex 2E, with migratory circinate erythema", "OMIM:600151": "Bardet-Biedl syndrome 3", "OMIM:209900": "Bardet-Biedl syndrome 1", "OMIM:615993": "Bardet-Biedl syndrome 16", "OMIM:615989": "Bardet-Biedl syndrome 12", "OMIM:615992": "Bardet-Biedl syndrome 15", "OMIM:615990": "Bardet-Biedl syndrome 13", "OMIM:605231": "Bardet-Biedl syndrome 6", "OMIM:615981": "Bardet-Biedl syndrome 2", "OMIM:615994": "Bardet-Biedl syndrome 17", "OMIM:615991": "Bardet-Biedl syndrome 14", "ORPHA:158684": "Epidermolysis bullosa simplex with pyloric atresia/Epidermolysis bullosa simplex with pyloric atresia", "OMIM:612138": "Epidermolysis bullosa simplex with pyloric atresia/Epidermolysis bullosa simplex with pyloric atresia", "OMIM:617119": "Bardet-Biedl syndrome 22", "OMIM:617406": "Bardet-Biedl syndrome 21", "OMIM:600360": "Aplasia cutis congenita of limbs, recessive", "OMIM:602522": "Bartter syndrome, type 4A, neonatal, with sensorineural deafness", "OMIM:613090": "Bartter syndrome, type 4B, neonatal, with sensorineural deafness", "OMIM:300971": "Bartter syndrome, type 5, antenatal, transient", "OMIM:241200": "Bartter syndrome, type 2", "OMIM:603457": "Bosma arhinia microphthalmia syndrome", "OMIM:618435": "Arthrogryposis, distal, type 2B2", "OMIM:616266": "Congenital contractures of the limbs and face, hypotonia, and developmental delay", "ORPHA:158687": "Lethal acantholytic erosive disorder/Epidermolysis bullosa, lethal acantholytic", "OMIM:609638": "Lethal acantholytic erosive disorder/Epidermolysis bullosa, lethal acantholytic", "OMIM:126050": "Digitotalar dysmorphism", "OMIM:614335": "Arthrogryposis, distal, type 1B", "OMIM:103920": "Allergic bronchopulmonary aspergillosis", "OMIM:302500": "Spinocerebellar ataxia, X-linked 1", "OMIM:616462": "Acrofacial dysostosis, Cincinnati type", "OMIM:165199": "Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant", "OMIM:125250": "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy", "OMIM:616648": "Optic atrophy 8", "ORPHA:1587": "Monosomy 13q14/Chromosome 13q14 deletion syndrome", "OMIM:613884": "Monosomy 13q14/Chromosome 13q14 deletion syndrome", "OMIM:612562": "Diamond-Blackfan anemia 7", "OMIM:613308": "Diamond-Blackfan anemia 9", "OMIM:612528": "Diamond-Blackfan anemia 5", "OMIM:615909": "Diamond-Blackfan anemia 13", "OMIM:613309": "Diamond-blackfan anemia 10", "OMIM:618310": "Diamond-Blackfan anemia 18", "OMIM:614900": "Diamond-Blackfan anemia 11", "OMIM:618313": "Diamond-Blackfan anemia 20", "OMIM:612563": "Diamond-Blackfan anemia 8", "OMIM:617408": "Diamond-Blackfan anemia 16", "OMIM:606164": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis", "OMIM:615550": "Diamond-Blackfan anemia 12", "OMIM:610629": "Diamond-Blackfan anemia 3", "OMIM:617409": "Diamond-Blackfan anemia 17", "OMIM:612561": "Diamond-Blackfan anemia 6", "OMIM:300946": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "OMIM:612527": "Diamond-Blackfan anemia 4", "OMIM:601353": "Brachycephaly, deafness, cataract, microstomia, and mental retardation", "OMIM:601088": "Ayme-Gripp syndrome", "OMIM:613123": "Brugada syndrome 8", "OMIM:616399": "Brugada syndrome 9", "OMIM:611777": "Brugada syndrome 2", "OMIM:613119": "Brugada syndrome 6", "OMIM:611875": "Brugada syndrome 3", "OMIM:612838": "Brugada syndrome 5", "OMIM:611876": "Brugada syndrome 4", "OMIM:613120": "Brugada syndrome 7", "OMIM:603688": "Prostate cancer/brain cancer susceptibility", "OMIM:176807": "Prostate cancer", "OMIM:300147": "Prostate cancer, hereditary, X-linked 1", "OMIM:601518": "Prostate cancer, hereditary, 1", "OMIM:260350": "Pancreatic cancer", "OMIM:613347": "Pancreatic cancer, susceptibility to, 2", "OMIM:247650": "Lymphokine deficiency", "OMIM:616445": "Candidiasis, familial, 9", "OMIM:613953": "Immunodeficiency 51", "OMIM:613108": "Candidiasis, familial, 4", "OMIM:613956": "Candidiasis, familial, 6, autosomal dominant", "OMIM:607644": "Candidiasis, familial, 3", "ORPHA:159": "Carnitine-acylcarnitine translocase deficiency/Carnitine-acylcarnitine translocase deficiency", "OMIM:212138": "Carnitine-acylcarnitine translocase deficiency/Carnitine-acylcarnitine translocase deficiency", "OMIM:252250": "Monocyte chemotactic disorder", "OMIM:615527": "Candidiasis, familial, 8", "OMIM:615280": "Cardiofaciocutaneous syndrome 4", "OMIM:615278": "Cardiofaciocutaneous syndrome 2", "OMIM:615279": "Cardiofaciocutaneous syndrome 3", "OMIM:615745": "Atrial standstill 2", "OMIM:108770": "Atrial standstill 1", "OMIM:615889": "Leukoencephalopathy, progressive, with ovarian failure", "OMIM:160980": "Carney complex, type 1", "ORPHA:101": "Dentatorubral pallidoluysian atrophy/Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia", "OMIM:125370": "Dentatorubral pallidoluysian atrophy/Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia", "ORPHA:1590": "Distal monosomy 13q", "OMIM:615418": "Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)", "OMIM:607694": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism", "OMIM:212080": "Cardiac lipidosis, familial", "OMIM:116200": "Cataract 1, multiple types", "OMIM:115700": "Cataract, crystalline aculeiform", "OMIM:601547": "Cataract 3, multiple types", "OMIM:604219": "Cataract 9, multiple types", "OMIM:614915": "Lethal congenital contracture syndrome 4", "OMIM:182950": "Spinal arachnoiditis", "OMIM:602483": "Auriculocondylar syndrome 1", "ORPHA:1596": "Distal monosomy 15q/Chromosome 15q26-qter deletion syndrome", "OMIM:612626": "Distal monosomy 15q/Chromosome 15q26-qter deletion syndrome", "OMIM:614669": "Auriculocondylar syndrome 2", "OMIM:615706": "Auriculocondylar syndrome 3", "OMIM:612798": "Question mark ears, isolated", "OMIM:617899": "Leukodystrophy, hypomyelinating, 14", "OMIM:612438": "Leukodystrophy, hypomyelinating, 6", "OMIM:608634": "Neuronopathy, distal hereditary motor, type IIB", "OMIM:615575": "Neuronopathy, distal hereditary motor, type IID", "OMIM:158590": "Neuronopathy, distal hereditary motor, type IIA", "OMIM:613376": "Neuronopathy, distal hereditary motor, type IIC", "OMIM:614751": "Neuronopathy, distal hereditary motor, type VB", "ORPHA:1597": "Distal monosomy 17q", "OMIM:600794": "Neuronopathy, distal hereditary motor, type VA", "OMIM:158580": "Neuronopathy, distal hereditary motor, type VIIA", "OMIM:607641": "Neuronopathy, distal hereditary motor, type VIIB", "OMIM:602196": "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", "OMIM:211990": "Camptomelic syndrome, Long-Limb type", "OMIM:607745": "Seizures, benign familial infantile, 3", "OMIM:187800": "Bleeding disorder, platelet-type, 16", "OMIM:613112": "Macrothrombocytopenia, autosomal dominant, tubb1-related", "OMIM:615193": "Bleeding disorder, platelet-type, 15", "ORPHA:1598": "Monosomy 18p/Chromosome 18p deletion syndrome", "OMIM:146390": "Monosomy 18p/Chromosome 18p deletion syndrome", "OMIM:615630": "Short-Rib thoracic dysplasia 10 with or without polydactyly", "OMIM:266920": "Short-rib thoracic dysplasia 9 with or without polydactyly", "OMIM:617252": "Uncombable hair syndrome 3", "OMIM:617251": "Uncombable hair syndrome 2", "OMIM:191480": "Uncombable hair syndrome 1", "OMIM:607842": "Aural atresia, congenital", "OMIM:108760": "Atresia of external auditory canal and conduction deafness", "OMIM:186400": "Synostoses, tarsal, carpal, and digital", "OMIM:608874": "Orofacial cleft 5", "OMIM:129400": "Rapp-Hodgkin syndrome", "ORPHA:16": "Blue cone monochromatism/Blue cone monochromacy", "OMIM:303700": "Blue cone monochromatism/Blue cone monochromacy", "OMIM:600668": "Chondrocalcinosis 1", "OMIM:615777": "Desbuquois dysplasia 2", "OMIM:215450": "Chorea, benign familial", "OMIM:614337": "Colorectal cancer, hereditary nonpolyposis, type 4", "OMIM:614385": "Colorectal cancer, hereditary nonpolyposis, type 7", "OMIM:613244": "Colorectal cancer, hereditary nonpolyposis, type 8", "OMIM:614331": "Colorectal cancer, hereditary nonpolyposis, type 6", "OMIM:614350": "Colorectal cancer, hereditary nonpolyposis, type 5", "OMIM:609310": "Colorectal cancer, hereditary nonpolyposis, type 2", "CCRD:16": "Castleman 病/Castleman disease; CD/Castleman disease", "ORPHA:160": "Castleman 病/Castleman disease; CD/Castleman disease", "OMIM:612555": "Breast-Ovarian cancer, familial, susceptibility to, 2", "OMIM:613399": "Familial breast-ovarian cancer-1", "OMIM:604370": "Breast-Ovarian cancer, familial, susceptibility to, 1", "OMIM:216330": "Cleidocranial dysplasia, recessive form", "OMIM:188550": "Thyroid cancer, nonmedullary, 1", "OMIM:615824": "Mitochondrial complex III deficiency, nuclear type 7", "OMIM:615157": "Mitochondrial complex III deficiency, nuclear type 2", "OMIM:615453": "Mitochondrial complex III deficiency, nuclear type 6", "ORPHA:1600": "Monosomy 18q/Chromosome 18q deletion syndrome", "OMIM:601808": "Monosomy 18q/Chromosome 18q deletion syndrome", "OMIM:615160": "Mitochondrial complex III deficiency, nuclear type 5", "OMIM:124000": "Mitochondrial complex III deficiency, nuclear type 1", "OMIM:615159": "Mitochondrial complex III deficiency, nuclear type 4", "OMIM:615838": "Mitochondrial complex III deficiency, nuclear type 8", "OMIM:616111": "Mitochondrial complex III deficiency, nuclear type 9", "OMIM:615158": "Mitochondrial complex III deficiency, nuclear type 3", "OMIM:135900": "Coffin-Siris syndrome 1", "OMIM:615866": "Coffin-Siris syndrome 9", "OMIM:617808": "Coffin-siris syndrome 6", "OMIM:616938": "Coffin-Siris syndrome 5", "ORPHA:160148": "Cap polyposis", "OMIM:618362": "Coffin-Siris syndrome 8", "OMIM:618027": "Coffin-Siris syndrome 7", "OMIM:614608": "Coffin-Siris syndrome 3", "OMIM:614609": "Coffin-Siris syndrome 4", "OMIM:614607": "Coffin-Siris syndrome 2", "OMIM:616570": "Cerebrooculofacioskeletal syndrome 3", "OMIM:610756": "Cerebrooculofacioskeletal syndrome 2", "OMIM:278780": "Xeroderma pigmentosum, complementation group G", "OMIM:610758": "Cerebrooculofacioskeletal syndrome 4", "OMIM:214150": "Cerebrooculofacioskeletal syndrome 1", "ORPHA:1606": "1p36 deletion syndrome/Chromosome 1p36 deletion syndrome", "OMIM:607872": "1p36 deletion syndrome/Chromosome 1p36 deletion syndrome", "OMIM:614475": "Atrial septal defect 9", "OMIM:612794": "Atrial septal defect 5", "OMIM:611363": "Atrial septal defect 4", "OMIM:614089": "Atrial septal defect 3", "OMIM:607941": "Atrial septal defect 2", "OMIM:614433": "Atrial septal defect 8", "OMIM:613087": "Atrial septal defect 6", "OMIM:161550": "Nasopharyngeal carcinoma", "OMIM:617075": "Nasopharyngeal carcinoma, susceptibility to, 3", "OMIM:202300": "Adrenocortical carcinoma, pediatric", "ORPHA:1617": "2q24 microdeletion syndrome", "OMIM:613610": "Cranioectodermal dysplasia 2", "OMIM:614378": "Cranioectodermal dysplasia 4", "OMIM:617102": "Short-Rib thoracic dysplasia 16 with or without polydactyly", "OMIM:614099": "Cranioectodermal dysplasia 3", "OMIM:218400": "Craniometaphyseal dysplasia, autosomal recessive", "OMIM:123000": "Craniometaphyseal dysplasia, autosomal dominant", "OMIM:615396": "Left ventricular noncompaction 10", "OMIM:613694": "Cardiomyopathy, dilated, 1U", "OMIM:611878": "Cardiomyopathy, dilated, 1Y", "ORPHA:1010": "Autosomal dominant palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma with congenital alopecia", "OMIM:104100": "Autosomal dominant palmoplantar keratoderma and congenital alopecia/Palmoplantar keratoderma with congenital alopecia", "OMIM:612158": "Cardiomyopathy, dilated, 1AA, with or without LVNC", "OMIM:615916": "Cardiomyopathy, dilated, 1nn", "OMIM:613122": "Cardiomyopathy, dilated, 1cc", "OMIM:608569": "Cardiomyopathy, dilated, 1O", "OMIM:613697": "Cardiomyopathy, dilated, 1V", "OMIM:614672": "Cardiomyopathy, dilated, 2B", "OMIM:611879": "Cardiomyopathy, dilated, 1Z", "OMIM:607482": "Cardiomyopathy, dilated, 1M", "OMIM:615248": "Cardiomyopathy, dilated, 1KK", "OMIM:604765": "Cardiomyopathy, dilated, 1I", "ORPHA:1620": "Distal monosomy 3p/Chromosome 3pter-p25 deletion syndrome", "OMIM:613792": "Distal monosomy 3p/Chromosome 3pter-p25 deletion syndrome", "OMIM:618189": "Cardiomyopathy, dilated, 2C", "OMIM:601154": "Cardiomyopathy, dilated, 1E", "OMIM:611880": "Cardiomyopathy, dilated, 2A", "OMIM:613172": "Cardiomyopathy, dilated, 1DD", "OMIM:611615": "Cardiomyopathy, dilated, 1X", "OMIM:601493": "Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction", "OMIM:606685": "Cardiomyopathy, dilated, 1L", "OMIM:612877": "Cardiomyopathy, dilated, 1BB", "ORPHA:1621": "3q13 microdeletion syndrome/Chromosome 3q13.31 deletion syndrome", "OMIM:615433": "3q13 microdeletion syndrome/Chromosome 3q13.31 deletion syndrome", "OMIM:613424": "Cardiomyopathy, dilated, 1R", "OMIM:604145": "Cardiomyopathy, dilated, 1G", "OMIM:613426": "Cardiomyopathy, dilated, 1S", "OMIM:613252": "Cardiomyopathy, dilated, 1EE", "OMIM:302045": "Cardiomyopathy, dilated, 3B", "OMIM:615235": "Cardiomyopathy, dilated, 1JJ", "OMIM:609909": "Cardiomyopathy, dilated, 1P", "OMIM:613881": "Cardiomyopathy, dilated, 1HH", "OMIM:601494": "Cardiomyopathy, dilated, 1D", "OMIM:615373": "Left ventricular noncompaction 8", "OMIM:611407": "Cardiomyopathy, dilated, 1W", "OMIM:613286": "Cardiomyopathy, dilated, 1FF", "OMIM:613642": "Cardiomyopathy, dilated, 1GG", "OMIM:600884": "Cardiomyopathy, dilated, 1B", "OMIM:615184": "Cardiomyopathy, dilated, 1II", "OMIM:604377": "Mitochondrial complex IV deficiency, nuclear type 2", "OMIM:616500": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "OMIM:616501": "Mitochondrial complex IV deficiency, nuclear type 13", "OMIM:615119": "Mitochondrial complex IV deficiency, nuclear type 6", "OMIM:304340": "Pettigrew syndrome", "OMIM:613494": "Immunodeficiency, common variable, 4", "OMIM:146830": "Immune deficiency, familial variable", "OMIM:613496": "Immunodeficiency, common variable, 6", "OMIM:613495": "Immunodeficiency, common variable, 5", "OMIM:616576": "Immunodeficiency, common variable, 12", "OMIM:615577": "Immunodeficiency, common variable, 10", "OMIM:240500": "Immunodeficiency, common variable, 2", "OMIM:613493": "Immunodeficiency, common variable, 3", "OMIM:614699": "Immunodeficiency, common variable, 7", "OMIM:500003": "Striatonigral degeneration, infantile, mitochondrial", "OMIM:610069": "Polyposis syndrome, hereditary mixed, 2", "OMIM:617108": "Sessile serrated polyposis cancer syndrome", "OMIM:610313": "Cold-Induced sweating syndrome 2", "OMIM:617055": "PERCHING syndrome", "OMIM:148000": "Kaposi sarcoma, susceptibility to", "OMIM:616975": "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "OMIM:600886": "Hyperferritinemia with or without cataract", "ORPHA:163": "Hereditary hyperferritinemia-cataract syndrome", "OMIM:614417": "Epilepsy, familial temporal lobe, 5", "OMIM:611630": "Epilepsy, familial temporal lobe, 3", "OMIM:615697": "Epilepsy, familial temporal lobe, 6", "OMIM:245570": "Epilepsy, focal, with speech disorder and with or without mental retardation", "OMIM:300643": "Rolandic epilepsy, mental retardation, and speech dyspraxia", "OMIM:415000": "Spermatogenic failure, Y-linked, 2", "OMIM:615224": "Advanced sleep phase syndrome, familial, 2", "OMIM:616882": "Advanced sleep phase syndrome, familial, 3", "OMIM:310468": "Nephrolithiasis, type I", "OMIM:308990": "Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis", "OMIM:300554": "Hypophosphatemic rickets, X-linked recessive", "OMIM:125400": "Dentin dysplasia, type I, with microdontia and misshapen teeth", "OMIM:601230": "Dermatitis herpetiformis, familial", "OMIM:614418": "Febrile seizures, familial, 11", "OMIM:600204": "Epiphyseal dysplasia, multiple, 2", "OMIM:614135": "Epiphyseal dysplasia, multiple, 6", "OMIM:600969": "Epiphyseal dysplasia, multiple, 3, with or without myopathy", "OMIM:605594": "Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "OMIM:182190": "Sinus node disease and myopia", "OMIM:163800": "Sick sinus syndrome 2", "OMIM:614662": "Cortisone reductase deficiency 2", "OMIM:604931": "Cortisone reductase deficiency 1", "OMIM:612004": "Thrombocytopenia 4", "OMIM:273900": "Thrombocytopenia 3", "OMIM:188000": "Thrombocytopenia 2", "OMIM:245480": "Specific granule deficiency", "OMIM:617475": "Specific granule deficiency 2", "OMIM:614379": "Complement component 4B deficiency", "OMIM:217000": "Complement component 2 deficiency", "OMIM:216950": "Complement component c1r deficiency", "OMIM:614380": "Complement component 4A deficiency", "OMIM:613783": "Complement component c1s deficiency", "OMIM:613652": "C1q deficiency", "OMIM:613790": "Complement component 8 deficiency, type I", "OMIM:610102": "C7 deficiency", "ORPHA:101000": "Autosomal recessive spastic paraplegia type 20/Spastic paraplegia 20, autosomal recessive", "OMIM:275900": "Autosomal recessive spastic paraplegia type 20/Spastic paraplegia 20, autosomal recessive", "OMIM:613789": "Complement component 8 deficiency, type II", "OMIM:613825": "Complement component 9 deficiency", "OMIM:612446": "C6 deficiency", "OMIM:609536": "C5 deficiency", "OMIM:608971": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive", "OMIM:615617": "Immunodeficiency 19", "OMIM:610163": "Immunodeficiency 25", "OMIM:615615": "Immunodeficiency 18", "OMIM:615959": "Centronuclear myopathy 5", "OMIM:255200": "Myopathy, centronuclear, 2", "OMIM:615896": "Hypotrichosis 13", "OMIM:278150": "Hypotrichosis 8", "OMIM:616760": "Woolly hair, autosomal recessive 3", "OMIM:604379": "Hypotrichosis 7", "OMIM:602114": "Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease", "OMIM:615348": "Nemaline myopathy 8", "OMIM:161800": "Nemaline myopathy 3", "OMIM:256030": "Nemaline myopathy 2, autosomal recessive", "OMIM:615731": "Nemaline myopathy 9", "OMIM:616165": "Nemaline myopathy 10", "OMIM:609284": "Nemaline myopathy 1", "OMIM:609285": "Nemaline myopathy 4", "OMIM:610687": "Nemaline myopathy 7", "OMIM:617336": "Nemaline myopathy 11, autosomal recessive", "OMIM:609273": "Nemaline myopathy 6", "OMIM:168601": "Parkinson disease 1, autosomal dominant", "OMIM:102530": "Spermatogenic failure 6", "OMIM:613958": "Spermatogenic failure 9", "OMIM:609056": "Salt and pepper developmental regression syndrome", "OMIM:615785": "White sponge nevus 2", "OMIM:250460": "Metaphyseal dysplasia without hypotrichosis", "OMIM:300260": "Mental retardation, x-linked syndromic, Lubs type", "OMIM:613227": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3", "OMIM:610185": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2", "OMIM:615268": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4", "OMIM:613989": "Dyskeratosis congenita, autosomal dominant 2", "OMIM:615190": "Dyskeratosis congenita, autosomal recessive 5", "ORPHA:163596": "Hb Bart's hydrops fetalis", "OMIM:616353": "Dyskeratosis congenita, autosomal recessive 6", "OMIM:224230": "Dyskeratosis congenita, autosomal recessive 1", "OMIM:305000": "Dyskeratosis congenita, X-linked", "OMIM:613987": "Dyskeratosis congenita, autosomal recessive, 2", "OMIM:613988": "Dyskeratosis congenita, autosomal recessive, 3", "OMIM:613990": "Dyskeratosis congenita, autosomal dominant 3", "OMIM:600630": "UV-sensitive syndrome 1", "OMIM:614640": "UV-sensitive syndrome 3", "OMIM:614621": "UV-sensitive syndrome 2", "ORPHA:1636": "Distal monosomy 7q36", "OMIM:615222": "Smith-Mccort dysplasia 2", "OMIM:607326": "Smith-Mccort dysplasia 1", "OMIM:614254": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant", "OMIM:612581": "Mental retardation, autosomal dominant 4", "OMIM:612621": "Intellectual developmental disorder, autosomal dominant 5", "OMIM:616393": "Intellectual developmental disorder, autosomal dominant 38", "OMIM:614257": "Chromosome 20q11-q12 deletion syndrome", "OMIM:615828": "Vulto-van Silfout-de Vries syndrome", "OMIM:614563": "Intellectual developmental disorder, autosomal dominant 13", "OMIM:614113": "Mental retardation, autosomal dominant 2", "OMIM:614256": "Mental retardation, autosomal dominant 10", "OMIM:616083": "Intellectual developmental disorder, autosomal dominant 30", "OMIM:616977": "Intellectual developmental disorder, autosomal dominant 43", "OMIM:618330": "Global developmental delay with or without impaired intellectual development", "OMIM:614255": "NESCAV syndrome", "OMIM:156200": "Mental retardation, autosomal dominant 1", "OMIM:617854": "Intellectual developmental disorder, autosomal dominant 56", "OMIM:617798": "Intellectual developmental disorder, autosomal dominant 53", "OMIM:618095": "Intellectual developmental disorder, autosomal recessive 63", "OMIM:616579": "Intellectual developmental disorder, autosomal dominant 40", "ORPHA:163634": "Maffucci syndrome/Multiple enchondromatosis, Maffucci type", "OMIM:614569": "Maffucci syndrome/Multiple enchondromatosis, Maffucci type", "OMIM:612580": "Intellectual developmental disorder, autosomal dominant 3", "OMIM:617799": "Intellectual developmental disorder, autosomal dominant 54", "OMIM:613970": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures", "OMIM:618106": "Intellectual developmental disorder, autosomal dominant 58", "OMIM:122600": "Spondylocostal dysostosis 5", "OMIM:602722": "Distal renal tubular acidosis 3, with or without sensorineural hearing loss", "OMIM:267300": "Renal tubular acidosis, distal, with progressive nerve deafness", "OMIM:113700": "Breasts and/or nipples, aplasia or hypoplasia of, 1", "OMIM:616001": "Breasts and/or nipples, aplasia or hypoplasia of, 2", "OMIM:617337": "Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type", "OMIM:614940": "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant", "OMIM:129490": "Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant", "OMIM:613029": "Glioma susceptibility 3", "ORPHA:163649": "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome", "OMIM:305620": "Frontometaphyseal dysplasia", "OMIM:617137": "Frontometaphyseal dysplasia 2", "OMIM:613681": "Chromosome 2q31.1 duplication syndrome", "OMIM:617805": "Renal hypodysplasia/aplasia 3", "OMIM:109720": "Biliary cirrhosis, primary", "OMIM:613093": "Cone dystrophy 4", "ORPHA:101001": "Autosomal recessive spastic paraplegia type 21/Mast syndrome", "OMIM:248900": "Autosomal recessive spastic paraplegia type 21/Mast syndrome", "ORPHA:163654": "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome/Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech", "OMIM:611717": "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome/Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech", "OMIM:602093": "Cone dystrophy 3", "OMIM:180020": "Retinal cone dystrophy 1", "OMIM:300085": "Cone-Rod dystrophy, X-linked, 2", "OMIM:304020": "Cone-rod dystrophy, X-linked, 1", "OMIM:613660": "Cone-rod dystrophy 15", "OMIM:601777": "Cone-Rod dystrophy 6", "OMIM:605549": "Cone-Rod dystrophy 8", "OMIM:600977": "Cone-Rod dystrophy 5", "OMIM:610381": "Cone-Rod dystrophy 11", "OMIM:600561": "Spondyloepiphyseal dysplasia with atlantoaxial instability", "OMIM:615860": "Cone-Rod dystrophy 19", "OMIM:600624": "Cone-Rod dystrophy 1", "OMIM:612775": "Cone-Rod dystrophy 9", "OMIM:615163": "Cone-Rod dystrophy 17", "OMIM:300834": "Macular degeneration, X-linked atrophic", "OMIM:604116": "Cone-rod dystrophy 3", "OMIM:603649": "Cone-rod dystrophy 7", "OMIM:615973": "Cone-Rod dystrophy 20", "OMIM:610283": "Cone-Rod dystrophy 10", "OMIM:614500": "Cone-Rod dystrophy 16", "ORPHA:163665": "Spondyloepiphyseal dysplasia tarda, Kohn type/Spondyloepiphyseal dysplasia tarda with mental retardation", "OMIM:271620": "Spondyloepiphyseal dysplasia tarda, Kohn type/Spondyloepiphyseal dysplasia tarda with mental retardation", "OMIM:612657": "Cone-rod dystrophy 12", "OMIM:615374": "Cone-Rod dystrophy 18", "OMIM:300476": "Cone-Rod dystrophy, X-linked, 3", "OMIM:616502": "Cone-rod dystrophy 21", "OMIM:610478": "Retinal cone dystrophy 4", "OMIM:608194": "Cone-rod dystrophy 13", "OMIM:604393": "Leber congenital amaurosis 4", "OMIM:225100": "Ectopia lentis", "OMIM:225200": "Ectopia lentis et pupillae", "OMIM:129600": "Ectopia lentis, familial", "OMIM:615954": "ACTH-independent macronodular adrenal hyperplasia 2", "OMIM:615830": "Pigmented nodular adrenocortical disease, primary, 4", "OMIM:614190": "Pigmented nodular adrenocortical disease, primary, 3", "OMIM:610489": "Pigmented nodular adrenocortical disease, primary, 1", "OMIM:610475": "Pigmented nodular adrenocortical disease, primary, 2", "OMIM:146200": "Hypoparathyroidism, familial isolated", "OMIM:129900": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1", "OMIM:617821": "Ehlers-Danlos syndrome, arthrochalasia type, 2", "OMIM:133540": "Cockayne syndrome, type B", "ORPHA:163681": "CNTNAP2-related developmental and epileptic encephalopathy/Pitt-Hopkins like syndrome 1", "OMIM:610042": "CNTNAP2-related developmental and epileptic encephalopathy/Pitt-Hopkins like syndrome 1", "OMIM:216400": "Cockayne syndrome A", "OMIM:601759": "Preaxial hallucal polydactyly", "OMIM:617900": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8", "OMIM:616532": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7", "OMIM:614850": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6", "OMIM:613002": "Immunodeficiency 83, susceptibility to viral infections", "OMIM:308350": "Developmental and epileptic encephalopathy 1", "OMIM:617350": "Epileptic encephalopathy, early infantile, 52", "OMIM:616341": "Epileptic encephalopathy, early infantile, 30", "OMIM:613724": "Leukoencephalopathy with dystonia and motor neuropathy", "OMIM:615473": "Developmental and epileptic encephalopathy 17", "OMIM:617391": "Epileptic encephalopathy, early infantile, 54", "OMIM:617389": "Epileptic encephalopathy, early infantile, 53", "OMIM:613402": "Microcephaly, seizures, and developmental delay", "OMIM:617599": "Epileptic encephalopathy, early infantile, 55", "OMIM:609304": "Epileptic encephalopathy, early infantile, 3", "OMIM:612164": "Epileptic encephalopathy, early infantile, 4", "OMIM:617276": "Developmental and epileptic encephalopathy 48", "OMIM:617493": "Neurodevelopmental disorder with involuntary movements", "OMIM:613721": "Epileptic encephalopathy, early infantile, 11", "ORPHA:163690": "Hypotonia-cystinuria syndrome/Hypotonia-cystinuria syndrome", "OMIM:606407": "Hypotonia-cystinuria syndrome/Hypotonia-cystinuria syndrome", "OMIM:617105": "Epileptic encephalopathy, early infantile, 41", "OMIM:616421": "Myoclonic-atonic epilepsy", "OMIM:615369": "Develomental and epileptic encephalopathy 94", "OMIM:121201": "Epilepsy, benign neonatal, 2", "OMIM:608217": "Epilepsy, benign neonatal, 3", "OMIM:616413": "Basal ganglia calcification, idiopathic, 6", "OMIM:615483": "Basal ganglia calcification, idiopathic, 5", "OMIM:615007": "Basal ganglia calcification, idiopathic, 4", "ORPHA:163693": "2p21 microdeletion syndrome", "OMIM:300590": "Cornelia de Lange syndrome 2", "OMIM:300882": "Cornelia de Lange syndrome 5", "OMIM:610759": "Cornelia de Lange syndrome 3", "OMIM:614701": "Cornelia de Lange syndrome 4", "OMIM:234810": "Pulmonary venoocclusive disease 2", "OMIM:277350": "Vitamin A metabolic defect", "OMIM:613705": "Orofacial cleft 10", "OMIM:600625": "Orofacial cleft 11", "OMIM:616788": "Orofacial cleft 15", "OMIM:254900": "Epilepsy, progressive myoclonic, 4, with or without renal failure", "OMIM:608864": "Orofacial cleft 6, susceptibility to", "OMIM:119800": "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly", "OMIM:607483": "Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)", "OMIM:215800": "Cleft larynx, posteriorstridor, congenital, included", "OMIM:609814": "Complement factor H deficiency", "OMIM:615109": "Cowden syndrome 6", "OMIM:616858": "Cowden syndrome 7", "OMIM:612359": "Cowden-Like syndrome", "OMIM:615108": "Cowden syndrome 5", "OMIM:606243": "Alveolar soft part sarcoma", "OMIM:615107": "Cowden syndrome 4", "OMIM:300580": "Myopathy, congenital, with fiber-type disproportion, X-linked", "OMIM:617760": "Myopathy, centronuclear, 6, with fiber-type disproportion", "OMIM:614524": "Fibrochondrogenesis 2", "OMIM:617626": "Fibromatosis, gingival, 5", "OMIM:228600": "Hyaline fibromatosis syndrome", "OMIM:616373": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3", "ORPHA:101003": "Autosomal recessive spastic paraplegia type 23/Spastic paraplegia 23", "OMIM:270750": "Autosomal recessive spastic paraplegia type 23/Spastic paraplegia 23", "ORPHA:163703": "Febrile infection-related epilepsy syndrome", "OMIM:616371": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4", "OMIM:616294": "Cole-Carpenter syndrome 2", "OMIM:219000": "Fraser syndrome", "OMIM:617667": "Fraser syndrome 3", "OMIM:617666": "Fraser syndrome 2", "OMIM:277720": "Whistling face syndrome, recessive form", "OMIM:618348": "Galloway-Mowat syndrome 7", "OMIM:251300": "Galloway-mowat syndrome 1", "OMIM:617731": "Galloway-Mowat syndrome 5", "OMIM:618347": "Galloway-Mowat syndrome 6", "OMIM:301006": "Galloway-Mowat syndrome 2, X-linked", "OMIM:618349": "Galloway-Mowat syndrome 8", "OMIM:617729": "Galloway-Mowat syndrome 3", "OMIM:617730": "Galloway-Mowat syndrome 4", "OMIM:161400": "Narcolepsy 1", "OMIM:614250": "Narcolepsy 7", "OMIM:609039": "Narcolepsy 3", "OMIM:609508": "Stickler sydrome, type I, nonsyndromic ocular", "OMIM:215600": "Cirrhosis, familial", "OMIM:617008": "Cerebral palsy, spastic quadriplegic, 3", "OMIM:612900": "Cerebral palsy, spastic quadriplegic, 2", "OMIM:613926": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation", "OMIM:234820": "Hemangiopericytoma, malignant", "OMIM:219800": "Cystinosis, nephropathic", "OMIM:104290": "Alternating hemiplegia of childhood 1", "OMIM:614820": "Alternating hemiplegia of childhood 2", "ORPHA:163721": "Rolandic epilepsy-speech dyspraxia syndrome", "OMIM:612923": "Hemolytic uremic syndrome, atypical, susceptibility to, 3", "OMIM:612925": "Hemolytic uremic syndrome, atypical, susceptibility to, 5", "OMIM:612924": "Hemolytic uremic syndrome, atypical, susceptibility to, 4", "OMIM:612922": "Hemolytic uremic syndrome, atypical, susceptibility to, 2", "OMIM:612926": "Hemolytic uremic syndrome, atypical, susceptibility to, 6", "OMIM:235400": "Hemolytic uremic syndrome, atypical, susceptibility to, 1", "OMIM:618154": "Hennekam lymphangiectasia-lymphedema syndrome 3", "OMIM:235510": "Hennekam lymphangiectasia-lymphedema syndrome", "OMIM:616006": "Hennekam lymphangiectasia-lymphedema syndrome 2", "OMIM:222400": "Diaphragmatic hernia 2", "ORPHA:163727": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome/Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp", "OMIM:608105": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome/Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp", "OMIM:306950": "Hernia, anterior diaphragmatic", "OMIM:610187": "Diaphragmatic hernia 3", "OMIM:615544": "Periventricular nodular heterotopia 6", "OMIM:617201": "Periventricular nodular heterotopia 7", "OMIM:300049": "Heterotopia, periventricular, X-linked dominant", "OMIM:608097": "Periventricular heterotopia with microcephaly, autosomal recessive", "OMIM:613830": "Night blindness, congenital stationary, type 1D", "OMIM:610427": "Cone-Rod synaptic disorder, congenital nonprogressive", "ORPHA:163746": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease/Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease", "OMIM:609136": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease/Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease", "OMIM:257270": "Night blindness, congenital stationary, type 1B", "OMIM:615058": "Night blindness, congenital stationary, type 1F", "OMIM:163500": "Night blindness, congenital stationary, autosomal dominant 2", "OMIM:617024": "Night blindness, congenital stationary, type 1H", "OMIM:614565": "Night blindness, congenital stationary, type 1E", "OMIM:610444": "Night blindness, congenital stationary, autosomal dominant 3", "OMIM:310500": "Night blindness, congenital stationary, type 1A", "OMIM:610445": "Night blindness, congenital stationary, autosomal dominant 1", "OMIM:300071": "Night blindness, congenital stationary, type 2A", "OMIM:613216": "Night blindness, congenital stationary (complete), 1C, autosomal recessive", "OMIM:616389": "Night blindness, congenital stationary, type 1G", "OMIM:147250": "Solitary median maxillary central incisor", "OMIM:142946": "Holoprosencephaly 4", "OMIM:610828": "Holoprosencephaly 7", "OMIM:609637": "Holoprosencephaly 5", "OMIM:610829": "Holoprosencephaly 9", "OMIM:157170": "Holoprosencephaly 2", "OMIM:142945": "Holoprosencephaly 3", "OMIM:614226": "Holoprosencephaly 11", "OMIM:610915": "Osteogenesis imperfecta, type VIII", "OMIM:610682": "Osteogenesis imperfecta, type VII", "OMIM:259440": "Osteogenesis imperfecta, type IX", "OMIM:613848": "Osteogenesis imperfecta, type X", "OMIM:614856": "Osteogenesis imperfecta, type XIII", "OMIM:616229": "Osteogenesis imperfecta, type XVI", "OMIM:610968": "Osteogenesis imperfecta, type XI", "OMIM:615220": "Osteogenesis imperfecta, type XV", "OMIM:613982": "Osteogenesis imperfecta, type VI", "OMIM:615066": "Osteogenesis imperfecta, type XIV", "OMIM:613849": "Osteogenesis imperfecta, type XII", "OMIM:616507": "Osteogenesis imperfecta, type XVII", "OMIM:610913": "Surfactant metabolism dysfunction, pulmonary, 2", "OMIM:610476": "Arrhythmogenic right ventricular dysplasia, familial, 11", "OMIM:615616": "Arrhythmogenic right ventricular dysplasia, familial, 13", "OMIM:604401": "Arrhythmogenic right ventricular dysplasia, familial, 6", "OMIM:607450": "Arrhythmogenic right ventricular dysplasia, familial, 8", "OMIM:604400": "Arrhythmogenic right ventricular dysplasia, familial, 5", "OMIM:609040": "Arrhythmogenic right ventricular dysplasia, familial, 9", "OMIM:611528": "Arrhythmogenic right ventricular dysplasia 12", "OMIM:602086": "Arrhythmogenic right ventricular dysplasia, familial, 3", "OMIM:610193": "Arrhythmogenic right ventricular dysplasia, familial, 10", "OMIM:602087": "Arrhythmogenic right ventricular dysplasia, familial, 4", "OMIM:615219": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies", "OMIM:236680": "Hydrolethalus syndrome 1", "OMIM:614120": "Hydrolethalus syndrome 2", "OMIM:143870": "Hypercalciuria, absorptive, susceptibility to", "ORPHA:101004": "Autosomal recessive spastic paraplegia type 24/Spastic paraplegia 24, autosomal recessive", "OMIM:607584": "Autosomal recessive spastic paraplegia type 24/Spastic paraplegia 24, autosomal recessive", "CCRD:9.2": "抗 LGI1 抗体相关脑炎/Autoimmune encephalitis with leucine-rich glioma-inactivated 1 (LGI1) antibodies", "OMIM:278760": "Xeroderma pigmentosum, complementation group F", "OMIM:278730": "Xeroderma pigmentosum, complementation group D", "OMIM:610651": "Xeroderma pigmentosum, complementation group B", "OMIM:238710": "Hyperlysinemia due to defect in lysine transport into mitochondria", "OMIM:615083": "Colorectal cancer, susceptibility to, 12", "OMIM:612591": "Colorectal cancer, susceptibility to, 10", "OMIM:614464": "Joubert syndrome 15", "OMIM:614970": "Joubert syndrome 20", "OMIM:617121": "Joubert syndrome 28", "OMIM:608629": "Joubert syndrome 3", "OMIM:614424": "Joubert syndrome 14", "OMIM:611560": "Joubert syndrome 7", "OMIM:603284": "Cerebral cavernous malformations 2", "OMIM:603285": "Cerebral cavernous malformations 3", "OMIM:614325": "Pitt-Hopkins-Like syndrome 2", "OMIM:145700": "Hypertrichosis universalis", "OMIM:304800": "Diabetes insipidus, nephrogenic, X-linked", "OMIM:125800": "Diabetes insipidus, nephrogenic, 2", "OMIM:615361": "Hypocalcemia, autosomal dominant 2", "OMIM:213000": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "OMIM:614435": "Hypoplastic left heart syndrome 2", "OMIM:136520": "Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included", "OMIM:614678": "Pontocerebellar hypoplasia, type 1B", "OMIM:616081": "Pontocerebellar hypoplasia, type 1C", "OMIM:607596": "Pontocerebellar hypoplasia type 1A", "OMIM:242860": "Immunodeficiency-Centromeric instability-facial anomalies syndrome", "OMIM:616910": "Immunodeficiency-Centromeric instability-facial anomalies syndrome 3", "OMIM:614069": "Immunodeficiency-Centromeric instability-facial anomalies syndrome2", "OMIM:616911": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4", "OMIM:114480": "Breast cancer", "OMIM:606346": "Deafness, autosomal dominant 22", "OMIM:612956": "Ventricular fibrillation, paroxysmal familial, 2", "OMIM:613443": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "OMIM:264050": "Prenatal bowing", "OMIM:615214": "Agammaglobulinemia 7, autosomal recessive", "OMIM:616941": "Agammaglobulinemia 8, autosomal dominant", "OMIM:613500": "Agammaglobulinemia 2, autosomal recessive", "OMIM:613501": "Agammaglobulinemia 3, autosomal recessive", "OMIM:300310": "Immunodeficiency 61", "OMIM:613506": "Agammaglobulinemia 5, autosomal dominant", "OMIM:612692": "Agammaglobulinemia 6, autosomal recessive", "OMIM:613502": "Agammaglobulinemia 4, autosomal recessive", "OMIM:300048": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked", "OMIM:167210": "Pachyonychia congenita 2", "OMIM:167200": "Pachyonychia congenita, type 1", "OMIM:615728": "Pachyonychia congenita 4", "OMIM:615726": "Pachyonychia congenita 3", "OMIM:608681": "Spondylocostal dysostosis 2, autosomal recessive", "OMIM:616566": "Spondylocostal dysostosis 6, autosomal recessive", "OMIM:613686": "Spondylocostal dysostosis 4, autosomal recessive", "OMIM:277300": "Spondylocostal dysostosis, autosomal recessive 1", "OMIM:609813": "Spondylocostal dysostosis 3, autosomal recessive", "OMIM:613325": "Rhabdoid tumor predisposition syndrome 2", "OMIM:609322": "Rhabdoid tumor predisposition syndrome 1", "OMIM:608542": "Aneurysm, intracranial berry, 2", "ORPHA:163934": "Atopic keratoconjunctivitis", "OMIM:609122": "Aneurysm, intracranial berry, 3", "OMIM:601067": "Usher syndrome, type ID", "OMIM:276900": "Usher syndrome, type I", "OMIM:614990": "Usher syndrome, type IK", "OMIM:614869": "Usher syndrome, type IJ", "OMIM:276904": "Usher syndrome, type IC", "ORPHA:163937": "X-linked intellectual disability, Najm type/Mental retardation and microcephaly with pontine and cerebellar hypoplasia", "OMIM:300749": "X-linked intellectual disability, Najm type/Mental retardation and microcephaly with pontine and cerebellar hypoplasia", "OMIM:606943": "Usher syndrome, type IG", "OMIM:602083": "Usher syndrome, type IF", "OMIM:602097": "Usher syndrome, type IE", "OMIM:611383": "Usher syndrome, type IID", "OMIM:276901": "Usher syndrome, type IIA", "OMIM:605472": "Usher syndrome, type IIC", "OMIM:276902": "Usher syndrome, type IIIA", "OMIM:614504": "Usher syndrome, type IIIB", "ORPHA:163956": "X-linked intellectual disability, Nascimento type/Mental retardation, X-linked, syndromic, Nascimento type", "OMIM:300860": "X-linked intellectual disability, Nascimento type/Mental retardation, X-linked, syndromic, Nascimento type", "OMIM:613985": "BETA-THALASSEMIA", "OMIM:141749": "Fetal hemoglobin quantitative trait locus 1", "OMIM:614073": "Hermansky-Pudlak syndrome 4", "OMIM:203300": "Hermansky-Pudlak syndrome 1", "OMIM:614074": "Hermansky-Pudlak syndrome 5", "OMIM:614075": "Hermansky-Pudlak syndrome 6", "OMIM:614072": "Hermansky-Pudlak syndrome 3", "OMIM:300123": "Mental retardation, X-linked, with isolated growth hormone deficiency", "OMIM:614465": "Joubert syndrome 16", "OMIM:614844": "Nephronophthisis 14", "ORPHA:163961": "X-linked cerebral-cerebellar-coloboma syndrome", "OMIM:608091": "Joubert syndrome 2", "OMIM:610188": "Joubert syndrome 5", "OMIM:612285": "Joubert syndrome 9", "OMIM:300867": "Kabuki syndrome 2", "OMIM:604356": "Duane retraction syndrome 2", "OMIM:617041": "Duane retraction syndrome 3 with or without deafness", "OMIM:604093": "Keratosis pilaris atrophicans", "OMIM:308800": "Keratosis follicularis spinulosa decalvans, X-linked", "OMIM:612843": "Keratosis follicularis spinulosa decalvans, autosomal dominant", "OMIM:600775": "Craniosynostosis 4" }