{
    "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"
}